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Master List of Awareness Causes - A | Personalized Cause

Comprehensive master list of every awareness cause beginning with the letter A and the corresponding awareness ribbon color.

Master List of Awareness Causes and Associated Colors

All Causes Beginning with the Letter A:


Aarskog Syndrome

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

Aarskog Syndrome is also known as:
• Aarskog Disease
• Aarskog-Scott Syndrome
• AAS
• Faciodigitogenital Syndrome
• Faciogenital Dysplasia
• FGDY
• Scott Aarskog Syndrome

What is Aarskog Syndrome?
Aarskog Syndrome is a rare genetic condition characterized by short stature and multiple facial, limb and genital abnormalities. Additionally, some types of cognitive disorders may occasionally be present. Up to now, the FGD1 gene on the X chromosome is the only gene known to be associated with Aarskog syndrome.

Categories

• Congenital and Genetic Diseases
• Kidney and Urinary Diseases
• Nervous System Diseases
• Skin Diseases

Cause Classification: Medical


Abetalipoproteinemia

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Abetalipoproteinemia is also known as:
• ABL
• Bassen-Kornzweig Syndrome
• Low Density Lipoprotein Deficiency
• Microsomal Triglyceride Transfer Protein Deficiency
• MTP Deficiency

What is Abetalipoproteinemia?
Abetalipoproteinemia is a rare inherited disorder affecting fat absorption by the intestine and mobilization by the liver. Inability to absorb fat results in deficiencies of lipids and various essential vitamins. Affected individuals experience progressive neurological deterioration, muscle weakness, difficulty walking, and blood abnormalities including a condition in which the red blood cells are malformed resulting in low levels of circulating red blood cells. Affected individuals may also develop degeneration of the retina of the eyes potentially resulting in loss of vision, a condition known as retinitis pigmentosa.

Categories

• Blood Diseases
• Congenital and Genetic Diseases
• Digestive Diseases
• Endocrine Diseases
• Eye Diseases
• Metabolic Disorders
• Nervous System Diseases

Cause Classification: Medical


Ablepharon-Macrostomia Syndrome (AMS)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

What is Ablepharon-Macrostomia Syndrome (AMS)?
Ablepharon-Macrostomia Syndrome (AMS) is an extremely rare inherited disorder characterized by various physical abnormalities affecting the head and facial area, the skin, the fingers, and the genitals. In addition, affected individuals may have malformations of the nipples and the abdominal wall. Infants and children with AMS may also experience delays in language development and, in some cases, mental retardation.

Categories

• Congenital and Genetic Diseases
• Ear, Nose, and Throat Diseases
• Eye Diseases
• Mouth Diseases

Cause Classification: Medical


Acanthocheilonemiasis

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Acanthocheilonemiasis is also known as:
• Acanthocheilonemiasis Perstans
• Dipetalonema Perstans
• Dipetalonemiasis
• Mansonella Perstans

What is Acanthocheilonemiasis?
Acanthocheilonemiasis is a rare tropical infectious disease caused by a parasite known as Acanthocheilonema perstans, which belongs to a group of parasitic diseases known as filarial diseases. This parasite is found, for the most part, in Africa. Symptoms of infection may include red, itchy skin, abdominal and chest pain, muscular pain, and areas of localized swelling. In addition, the liver and spleen may become abnormally enlarged.

Categories

• Parasitic Diseases

Cause Classification: Medical


Acanthosis Nigricans (AN)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Acanthosis Nigricans (AN) is also known as:
• Acanthosis Nigricans With Insulin Resistance Type A
• Acanthosis Nigricans With Insulin Resistance Type B
• Benign Acanthosis Nigricans
• Drug-induced Acanthosis Nigricans
• Hereditary Benign Acanthosis Nigricans
• Malignant Acanthosis Nigricans
• Pseudoacanthosis Nigricans

What is Acanthosis Nigricans (AN)?
Acanthosis Nigricans (AN) is a skin condition characterized by abnormally increased coloration and "velvety" thickening of the skin, particularly of skin fold regions, such as of the neck and groin and under the arms. Various benign (non-cancerous) forms of AN have been identified in which the disorder may be inherited as a primary condition or associated with various underlying syndromes, an excess accumulation of body fat, or the use of certain medications. In other instances, AN may occur in association with an underlying cancerous tumor.

Categories

• Congenital and Genetic Diseases
• Skin Diseases

Cause Classification: Medical


Aceruloplasminemia

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

Aceruloplasminemia is also known as:
• Familial Apoceruloplasmin Deficiency
• Hereditary Ceruloplasmin Deficiency

What is Aceruloplasminemia?
Aceruloplasminemia is a rare genetic disorder characterized by the abnormal accumulation of iron in the brain and various internal organs. Affected individuals develop neurological symptoms including cognitive impairment and movement disorders. Degeneration of the retina and diabetes may also occur.

Categories

• Blood Diseases
• Congenital and Genetic Diseases
• Eye Diseases
• Metabolic Disorders
• Nervous System Diseases

Cause Classification: Medical


Achalasia

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Achalasia is also known as:
• Cardiospasm
• Dyssynergia Esophagus
• Esophageal Aperistalsis
• Megaesophagus

What is Achalasia?
Achalasia is a rare disorder of the esophagus, the tube that carries food from the throat to the stomach. It is characterized by impaired ability to push food down toward the stomach, failure of the ring-shaped muscle at the bottom of the esophagus, the lower esophageal sphincter, to relax. It is the contraction and relaxation of the sphincter that moves food through the tube.

Categories

• Digestive Diseases

Cause Classification: Medical


Achard Thiers Syndrome

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Achard Thiers Syndrome is also known as:
• Diabetic Bearded Woman Syndrome

What is Achard Thiers Syndrome?
Achard-Thiers Syndrome is a rare disorder that occurs primarily in postmenopausal women and is characterized by type 2 (insulin-resistant) diabetes mellitus and signs of androgen excess.

Categories

• Female Reproductive Diseases

Cause Classification: Medical


Achondrogenesis

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Achondrogenesis is also known as:
• Achondrogenesis Type IA (Houston-Harris Type)
• Achondrogenesis Type IB (Fraccaro Type)
• Achondrogenesis Type II (Langer-Saldino Type)

What is Achondrogenesis?
Achondrogenesis is a group of rare skeletal dysplasias characterized by extreme shortening of the arms and legs in relation to the trunk, abnormal development of ribs, vertebra and other skeletal abnormalities. The health problems associated with these conditions are life-threatening and most affected infants are stillborn or die shortly after birth due to respiratory failure.

Categories

• Congenital and Genetic Diseases

Cause Classification: Medical


Achondroplasia

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

Achondroplasia is also known as:
• ACH
• Achondroplastic Dwarfism
• Dwarf, Achondroplastic

What is Achondroplasia?
Achondroplasia is the most commonly occurring abnormality of bone growth, occurring in approximately 1 in 20,000-30,000 live births.

Categories

• Congenital and Genetic Diseases
• Musculoskeletal Diseases

Cause Classification: Medical


Acid Sphingomyelinase Deficiency (ASMD)

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

Acid Sphingomyelinase Deficiency (ASMD) is also known as:
• ASMD
• ASM Deficiency
• Acid Sphingomyelinase-Deficient Niemann-Pick Disease
• ASM-Deficient Niemann-Pick Disease

Subdivisions of Acid Sphingomyelinase Deficiency
• Niemann-Pick Disease Type A (NPD-A)
• Niemann-Pick Disease Type B (NPD-B)

What is Acid Sphingomyelinase Deficiency?
Acid Sphingomyelinase Deficiency (ASMD) is a rare progressive genetic disorder that results from a deficiency of the enzyme acid sphingomyelinase, which is required to break down a fatty substance called sphingomyelin. Consequently, sphingomyelin and other substances accumulate in various tissues of the body.

Categories

• Congenital and Genetic Diseases
• Lung Diseases
• Metabolic Disorders
• Nervous System Diseases

Cause Classification: Medical


Acidemia Isovaleric

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Acidemia Isovaleric is also known as:
• Isovaleric Acidaemia
• Isovaleric Acid CoA Dehydrogenase Deficiency
• Isovalericacidemia
• Isovaleryl CoA Carboxylase Deficiency
• IVA

What is Acidemia Isovaleric?
Isovaleric Acidemia is a hereditary metabolic disorder. It is characterized by a deficiency of the enzyme isovaleryl CoA dehydrogenase. The disorder occurs in both an acute and a chronic intermittent form. In the acute form of Isovaleric Acidemia, vomiting, refusal to eat, and listlessness usually occur.

Categories

• Congenital and Genetic Diseases
• Metabolic Disorders
• Newborn Screening

Cause Classification: Medical


Acidemia, Methylmalonic

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Acidemia, Methylmalonic is also known as:
• Acidemia, Methylmalonic
• MMA

What is Acidemia, Methylmalonic?
Methylmalonic Acidemia is an inherited condition in which the body is unable to process certain proteins and fats properly. Signs and symptoms usually appear in early infancy and vary from mild to life-threatening. Affected infants can experience vomiting, dehydration, weak muscle tone, developmental delay,

Categories

• Kidney and Urinary Diseases
• Newborn Screening

Cause Classification: Medical


Acoustic Neuroma

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Acoustic Neuroma is also known as:
• Acoustic Neurilemoma
• Acoustic Neurinoma
• Fibroblastoma, Perineural
• Neurinoma of the Acoustic Nerve
• Neurofibroma of the Acoustic Nerve
• Schwannoma of the Acoustic Nerve
• Vestibular Schwannoma

What is Acoustic Neuroma?
Acoustic Neuroma, also known as a vestibular schwannoma, is a rare benign (non-cancerous) growth that develops on the eighth cranial nerve. This nerve runs from the inner ear to the brain and is responsible for hearing and balance. Although there is no standard or typical pattern of symptom development, hearing loss in one ear is the initial symptom in approximately 90 percent of affected individuals. Additional common findings include ringing in the ears and dizziness or imbalance.

Categories

• Schwannoma

Cause Classification: Medical


Acquired Aplastic Anemia

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Acquired Aplastic Anemia is also known as:
• Idiopathic Aplastic Anemia
• Immune Aplastic Anemia

What is Acquired Aplastic Anemia?
Acquired Aplastic Anemia is a rare, serious blood disorder, due to failure of the bone marrow's failure to produce blood cells. Bone marrow is the spongy substance found in the center of the bones of the body, in adults mainly the spine, pelvis, and large bones of the legs. The bone marrow contains hematopoietic stem cells. Stem cells can produce more stem cells and also differentiate and proliferate, giving rise to red blood cells, white blood cells, and platelets. In acquired aplastic anemia, an almost complete absence of hematopoietic stem cells results in low levels of red and white blood cells and platelets.

Categories

• Blood Diseases

Cause Classification: Medical


Acquired Hemophilia (AH)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Acquired Hemophilia (AH) is also known as:
• Acquired Hemophilia A (AHA)
• Acquired Hemophilia B (AHB)

What is Acquired Hemophilia (AH)?
Acquired Hemophilia (AH) is a rare autoimmune disorder characterized by bleeding that occurs in patients with a personal and family history negative for hemorrhages. Autoimmune disorders occur when the body's immune system mistakenly attacks healthy cells or tissue. In AH, the body produces antibodies that attack clotting factors, most often factor VIII. Clotting factors are specialized proteins required for the blood to clot normally. Consequently, affected individuals develop complications associated with abnormal, uncontrolled bleeding into the muscles, skin and soft tissue and during surgery or following trauma.

Categories

• Autoimmune Diseases
• Autoinflammatory Diseases
• Hemophilia

Cause Classification: Medical


Acquired Lipodystrophy

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Acquired Lipodystrophy is also known as:
• Acquired Generalized Lipodystrophy (AGL; Lawrence Syndrome)
• Acquired Partial Lipodystrophy (APL; Barraquer-Simons Syndrome)
• High Cctive Antiretroviral Therapy (HAART) Induced Lipodystrophy (LD-HIV)
• Localized Lipodystrophy

What is Acquired Lipodystrophy?
Acquired Lipodystrophy is a general term for types of lipodystrophy that are not inherited, but rather acquired at some point during life. Acquired lipodystrophies do not have a direct genetic cause, but rather many different factors may be involved. Acquired lipodystrophies can be caused by medications, autoimmunity or for unknown reasons. Subtypes of acquired lipodystrophy include acquired generalized lipodystrophy (Lawrence Syndrome), acquired partial lipodystrophy (Barraquer-Simons Syndrome), localized lipodystrophy, and high active antiretroviral induced lipodystrophy, which may develop in HIV-infected individuals undergoing a specific form of treatment. Onset of acquired forms of lipodystrophy can occur during childhood, adolescence or adulthood.

Categories

• Congenital and Genetic Diseases
• Endocrine Diseases
• Skin Diseases

Cause Classification: Medical


Acquired Neuromyotonia

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Acquired Neuromyotonia is also known as:
• Continuous Muscle Fiber Activity Syndrome
• Isaacs-Merten Syndrome
• Isaacs' Syndrome
• Quantal Squander

What is Acquired Neuromyotonia?
Acquired Neuromyotonia is an inflammatory disorder characterized by abnormal nerve impulses from the peripheral nerves that result in continuous muscle fiber activity. Affected individuals often experience progressive muscle stiffness and cramping especially in the hands and feet, increased sweating, and delayed muscle relaxation.

Categories

• Nervous System Diseases

Cause Classification: Medical


Acrocallosal Syndrome, Schinzel Type

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

Acrocallosal Syndrome, Schinzel Type is also known as:
• Absence of Corpus Callosum, Schinzel Type
• ACLS
• ACS
• Hallux Duplication, Postaxial Polydactyly, and Absence of Corpus Callosum
• Schinzel Acrocallosal Syndrome

What is Acrocallosal Syndrome, Schinzel Type?
Acrocallosal Syndrome, Schinzel type is a rare genetic disorder that is apparent at birth. Associated symptoms and findings may be variable, including among affected members of the same family. However, the disorder is typically characterized by underdevelopment or absence of the thick band of nerve fibers joining the two hemispheres of the brain and moderate to severe mental retardation. In addition, many affected individuals have malformations of the skull and facial region and/or distinctive abnormalities of the fingers and toes.

Categories

• Congenital and Genetic Diseases
• Musculoskeletal Diseases
• Nervous System Diseases

Cause Classification: Medical


Acrodermatitis Enteropathica (AE)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Acrodermatitis Enteropathica is also known as:
• AE
• Brandt Syndrome
• Danbolt-Cross Syndrome
• Zinc Deficiency, Congenital

What is Acrodermatitis Enteropathica (AE)?
Acrodermatitis Enteropathica (AE) is a disorder of zinc metabolism that occurs in one of three forms: an inborn form and two acquired forms. The inborn form of AE is a rare genetic disorder characterized by intestinal abnormalities that lead to the inability to absorb zinc from the intestine.

Categories

• Congenital and Genetic Diseases
• Digestive Diseases
• Metabolic Disorders
• Skin Diseases

Cause Classification: Medical


Acrodysostosis

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

Acrodysostosis is also known as:
• Acrodysostosis with or without Hormone Resistance
• Arkless-Graham Syndrome
• Maroteaux-Malamut Syndrome

What is Acrodysostosis?
Acrodysostosis is a rare genetic disorder characterized by skeletal malformations, growth delays, short stature, and distinctive facial features caused, in part, by underdeveloped of certain facial bones, particularly those in the middle portion of the face. A characteristic symptom is abnormally small hands and feet with short, stubby fingers and toes that may affect all or some of the fingers and toes.

Categories

• Congenital and Genetic Diseases
• Ear, Nose, and Throat Diseases
• Mouth Diseases
• Musculoskeletal Diseases

Cause Classification: Medical


Acromegaly

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Acromegaly is also known as:
• Acromesomelic Dwarfism

Subdivisions of Acromegaly
• Acromesomelic Dysplasia, Maroteaux Type
• Acromesomelic Dysplasia, Osebold-Remondini Type
• Acromesomelic Dysplasia with Genital Anomalies
• Fibular Hypoplasia and Complex Brachydactyly (Du Pan Syndrome)
• Grebe Dysplasia (including Hunter-Thompson Type)

What is Acromegaly?
Acromesomelic Dysplasia is an extremely rare, inherited, progressive skeletal disorder that results in a particular form of short stature known as short-limb dwarfism. The disorder is characterized by acromelia and mesomelia. Mesomelia describes the shortening of the bones of the forearms and lower legs relative to the upper parts of those limbs. Acromelia is the shortening of the bones of the hands and feet.

Categories

• Endocrine Diseases
• Female Reproductive Diseases
• Metabolic Disorders
• Rare Cancers

Cause Classification: Medical


Acromesomelic Dysplasia

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Acromesomelic Dysplasia is also known as:
• Acromesomelic Dwarfism

Subdivisions of Acromesomelic Dysplasia
• Acromesomelic Dysplasia Campailla Martinelli Type
• Acromesomelic Dysplasia Hunter Thompson Type
• Acromesomelic Dysplasia Maroteaux Type
• Chondrodysplasia Acromesomelic with Genital Anomalies
• Chondrodysplasia, Grebe Type

What is Acromesomelic Dysplasia?
Acromesomelic Dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs and abnormal shortening of the bones in the hands and feet.

Categories

• Musculoskeletal Diseases

Cause Classification: Medical


Acromicric Dysplasia

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Acromicric Dysplasia is also known as:
• Acromicric Skeletal Dysplasia

What is Acromicric Dysplasia?
Acromicric Dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation leading to short stature, and mild facial abnormalities.

Categories

• Congenital and Genetic Diseases
• Musculoskeletal Diseases

Cause Classification: Medical


ACTH Deficiency

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

ACTH Deficiency is also known as:
• Adrenocorticotropic Hormone Deficiency, Isolated

What is ACTH Deficiency?
ACTH Deficiency arises as a result of decreased or absent production of adrenocorticotropic hormone (ACTH) by the pituitary gland. A decline in the concentration of ACTH in the blood leads to a reduction in the secretion of adrenal hormones, resulting in adrenal insufficiency. Adrenal insufficiency leads to weight loss, lack of appetite, weakness, nausea, vomiting, and low blood pressure. Because these symptoms are so general, the diagnosis is sometimes delayed or missed entirely.

Categories

• Congenital and Genetic Diseases
• Endocrine Diseases

Cause Classification: Medical


Acute Disseminated Encephalomyelitis (ADEM)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Acute Disseminated Encephalomyelitis (ADEM) is also known as:
• ADEM

What is Acute Disseminated Encephalomyelitis (ADEM)?
Acute Disseminated Encephalomyelitis (ADEM) is a neurological, immune-mediated disorder in which widespread inflammation of the brain and spinal cord damages tissue known as white matter. White matter is tissue composed of nerve fibers, many of which are covered by a collection of fats and proteins known as myelin. Damage to the myelin sheath affects the nerve’s ability to transmit information and potentially can cause a wide range of neurological symptoms.

Categories

• Nervous System Diseases

Cause Classification: Medical


Acute Eosinophilic Pneumonia (AEP)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Acute Eosinophilic Pneumonia (AEP) is also known as:
• AEP
• IAEP
• Idiopathic Acute Eosinophilic Pneumonia

What is Acute Eosinophilic Pneumonia (AEP)?
Acute Eosinophilic Pneumonia (AEP) is a rare disorder characterized by the rapid accumulation of eosinophils in the lungs. Eosinophils are a type of white blood cell and are part of the immune system. They are usually produced in response to allergens, inflammation or infection and are particularly active in the respiratory tract.

Categories

• Immune System Diseases
• Lung Diseases

Cause Classification: Medical


Acute Intermittent Porphyria (AIP)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Acute Intermittent Porphyria (AIP) is also known as:
• AIP
• Swedish Porphyria

What is Acute Intermittent Porphyria (AIP)?
Acute Intermittent Porphyria (AIP) is a rare metabolic disorder that is characterized by deficiency of the enzyme as hydroxymethylbilane synthase. This enzyme deficiency can result in the accumulation of porphyrin precursors in the body.

Categories

• Congenital and Genetic Diseases
• Eye Diseases
• Kidney and Urinary Diseases
• Metabolic Disorders
• Nervous System Diseases
• RDCRN
• Skin Diseases

Cause Classification: Medical


Acute Lymphoblastic Leukemia (ALL)

Awareness Ribbon Color:

Orange Ribbon for Acute Lymphoblastic Leukemia (ALL)

Acute Lymphoblastic Leukemia (ALL) is also known as:
• ALL
• Acute Lymphocytic Leukemia

What is Acute Lymphoblastic Leukemia (ALL)?
Acute Lymphoblastic Leukemia (ALL) is a type of cancer in which the bone marrow makes too many lymphocytes, a type of white blood cell. ALL may develop in children or adults. Acute Lymphoblastic Leukemia spreads to the blood fairly quickly, and then may spread to other areas of the body such as the lymph nodes, liver, spleen, central nervous system, and testicles (in males).

Categories

• Rare Cancers

Cause Classification: Medical
Cross Reference: Cancer Causes And Their Associated Cancer Ribbon Colors


Acute Myeloid Leukemia (AML), Adult

Awareness Ribbon Color:

Orange Ribbon for Myeloid Leukemia (AML), Adult
Zebra Ribbon for Rare Diseases

Acute Myeloid Leukemia (AML), Adult is also known as:
• Acute Myelogenous Leukemia
• Acute Myelogenous Leukemia
• Acute Nonlymphocytic Leukemia
• AML

What is Acute Myeloid Leukemia (AML), Adult?
Acute Myeloid Leukemia (AML), Adult is a group of blood and bone marrow cancers. This disorder is characterized by incomplete maturation of blood cells and reduced production of other normal hematopoietic stem cells. In AML, a change in the genetic material (DNA) of a single immature cell, called a blast cell or a myeloblast cell causes the altered cell to continually reproduce itself. Eventually, these altered cells crowd out normal, healthy cells in the marrow. They also cause damage and scarring in the marrow, further disrupting the production of red cells, white cells, and platelets.

Categories

• Blood and Bone Cancers

Cause Classification: Medical
Cross Reference: Cancer Causes And Their Associated Cancer Ribbon Colors


Acute Myeloid Leukemia (AML), Childhood

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

What is Acute Myeloid Leukemia (AML), Childhood?
Acute Myeloid Leukemia (AML), also called acute myelogenous leukemia, is a type of blood cancer. It is a quickly progressing disease in which too many abnormal white blood cells are found in the bone marrow, the soft, spongy center of long bones. In AML, myeloid stem cells become immature white blood cells called myeloblasts or “blasts.” These blasts do not become healthy white blood cells. Instead, they build up in the bone marrow, so there is less room for healthy white blood cells, red blood cells and platelets. In addition, these abnormal cells are unable to fight off infection.

Categories

• Blood and Bone Cancers

Cause Classification: Medical


Acute Respiratory Distress Syndrome (ARDS)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Acute Respiratory Distress Syndrome (ARDS) is also known as:
• Adult Respiratory Distress Syndrome
• ARDS
• Noncardiogenic Pulmonary Edema
• Increased-Permeability Pulmonary Edema

What is Acute Respiratory Distress Syndrome (ARDS)?
Acute Respiratory Distress Syndrome (ARDS) is a type of severe, acute lung dysfunction affecting all or most of both lungs that occurs as a result of illness or injury. Although it is sometimes called adult respiratory distress syndrome, it may also affect children. ARDS is a buildup of fluid in the small air sacs in the lungs. This makes it difficult for oxygen to get into the bloodstream.

Categories

• Lung Diseases

Cause Classification: Medical


Adams Oliver Syndrome (AOS)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Adams Oliver Syndrome (AOS) is also known as:
• Absence Defect of Limbs, Scalp and Skull
• Aplasia Cutis Congenita with Terminal Transverse Limb Defects
• Congenital Scalp Defects with Distal Limb Reduction Anomalies

What is Adams Oliver Syndrome (AOS)?
Adams-Oliver Syndrome (AOS) is an extremely rare inherited disorder characterized by defects of the scalp and abnormalities of the fingers, toes, arms, and/or legs. In infants with Adams-Oliver syndrome, scalp defects are present at birth and may include one or multiple hairless scarred areas that may have abnormally wide blood vessels directly under the affected skin. In severe cases, an underlying defect of the bones of the skull may also be present.

Categories

• Congenital and Genetic Diseases
• Musculoskeletal Diseases
• Skin Diseases

Cause Classification: Medical


Addison’s Disease

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Addison’s Disease is also known as:
• Chronic Adrenocortical Insufficiency
• Primary Adrenal Insufficiency
• Primary Failure Adrenocortical Insufficiency

What is Addison’s Disease?
Addison's Disease is a rare disorder characterized by inadequate production of the steroid hormones cortisol and aldosterone by the two outer layers of cells of the adrenal glands. Addison's Disease, also known as primary adrenal insufficiency, result from the insufficient production of the hormones cortisol and aldosterone. Major symptoms include fatigue, gastrointestinal abnormalities, and changes in skin color. Behavior and mood changes may also occur in some individuals with Addison's Disease. Increased excretion of water and low blood pressure can lead to extremely low concentrations of water in the body. The symptoms of Addison's usually develop slowly, but sometimes can develop rapidly, a serious condition called acute adrenal failure. In most cases, Addison's Disease occurs when the body's immune system mistakenly attacks the adrenal glands causing slowly progressive damage to the adrenal cortex.

Categories:

• Autoimmune Diseases
• Autoinflammatory Diseases
• Congenital and Genetic Diseases
• Endocrine Disease
• Female Reproductive Diseases
• Kidney and Urinary Diseases
• Male Reproductive Diseases

Cause Classification: Medical


Adenoid Cystic Carcinoma (ACC)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Adenoid Cystic Carcinoma (ACC) is also known as:
• ACC
• Adenocystic Carcinoma
• Cribriform Carcinoma
• Cylindroma

What is Adenoid Cystic Carcinoma (ACC)?
Adenoid Cystic Carcinoma (ACC) is a relatively rare form of cancer that most commonly develops in the salivary glands or other regions of the head and neck. In some cases, ACC may arise in other primary sites, such as the skin, breast, neck of the uterus in females, prostate gland in males, or other areas.

Categories

• Rare Cancers

Cause Classification: Medical


Adenylosuccinate Lyase Deficiency (ASLD)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Adenylosuccinate Lyase Deficiency (ASLD) is also known as:
• Adenylosuccinase Deficiency
• Succinylpurinemic Autism

Subdivisions of Adenylosuccinate Lyase Deficiency (ASLD)
• Adenylosuccinate Lyase Deficiency Type I
• Adenylosuccinate Lyase Deficiency Type II
• Adenylosuccinate Lyase Deficiency Type III
• Adenylosuccinate Lyase Deficiency Type IV

What is Adenylosuccinate Lyase Deficiency?
Adenylosuccinate Lyase Deficiency (ASLD) is a rare, inherited metabolic disorder due to a lack of the enzyme adenylosuccinate lyase (ASL). The defect is characterized by the appearance of two unusual chemicals, succinylaminoimidazole carboxamide riboside (SAICA riboside) and succinyladenosine, in cerebrospinal fluid, in urine and, to a much smaller extent, in plasma. These compounds, which are never found in healthy individuals, are formed from the two natural compounds acted upon by the enzyme. As a rule, symptoms usually include some of the following: psychomotor retardation, autistic features, epilepsy, axial hypotonia with peripheral hypertonia, muscle wasting, and secondary feeding problems.

Categories

• Congenital and Genetic Diseases
• Metabolic Disorders
• Nervous System Diseases

Cause Classification: Medical


Adie Syndrome

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Adie Syndrome is also known as:
• Adie's Pupil
• Adie's Syndrome
• Adie's Tonic Pupil
• Holmes-Adie Syndrome
• Tonic Pupil Syndrome

What is Adie Syndrome?
Adie Syndrome, or Holmes-Adie syndrome, is a rare neurological disorder affecting the pupil of the eye. In most patients the pupil is larger than normal and slow to react in response to direct light. Absent or poor tendon reflexes are also associated with this disorder. In most individuals, the cause is unknown, but Adie syndrome can occur as due to other conditions such as trauma, surgery, lack of blood flow or infection. In rare cases localized disturbance of sweat secretion is associated with Adie Syndrome (Ross Syndrome).

Categories

• Nervous System Diseases

Cause Classification: Medical


Adiposis Dolorosa

Awareness Ribbon Color:

Blue and Yellow Ribbon for Adipposis Dolorosa

Adiposis Dolorosa is also known as:
• Dercum Disease
• Dercum’s Disease

What is Adiposis Dolorosa?
Adiposis Dolorosa is a rare condition characterized by the growth of multiple, painful, lipomas (benign, fatty tumors). The lipomas may occur anywhere on the body and can cause severe pain. It usually occurs in adults, and women are more commonly affected than men. Adiposis dolorosa is chronic and tends to be progressive.

Categories

• Skin Diseases

Cause Classification: Medical


Adolescents, Cancer in

Awareness Ribbon Color:

Blue and White Ribbon for Adolescents, Cancer in

What is Adolescents, Cancer in?
About 70,000 young people (ages 15-39) are diagnosed with cancer each year in the United States, accounting for about 5 percent of cancer diagnoses in the United States. This is about six times the number of cancers diagnosed in children ages 0-14. Young adults are more likely than either younger children or older adults to be diagnosed with certain cancers, such as Hodgkin lymphoma, testicular cancer, and sarcomas. However, the incidence of specific cancer types varies according to age. Leukemia, lymphoma, testicular cancer, and thyroid cancer are the most common cancers among 15-24-year-olds. Among 25-39-year-olds, breast cancer and melanoma are the most common. Evidence suggests that some cancers in adolescents and young adults may have unique genetic and biological features.

Categories

• Cancer

Cause Classification: Medical
Cross Reference: Cancer Causes And Their Associated Cancer Ribbon Colors


Adrenocortical Carcinoma, Adult

Awareness Ribbon Color:

Green Ribbon for Adrenocortical Carcinoma, Adult

What is Adrenocortical Carcinoma, Adult
Adrenocortical Darcinoma is a rare disease in which malignant (cancer) cells form in the outer layer of the adrenal gland. Adrenocortical carcinoma is also called cancer of the adrenal cortex.

Categories

• Cancer

Cause Classification: Medical
Cross Reference: Cancer Causes And Their Associated Cancer Ribbon Colors


Adrenocortical Carcinoma, Childhood

Awareness Ribbon Color:

Gold Ribbon for Adrenocorticol Carcinoma, Childhood
Green Ribbon for Adrenocortical Carcinoma, Childhood

What is Adrenocortical Carcinoma, Childhood?
Adrenal cancer is a rare form of cancer that occurs due to abnormal and uncontrolled cell growth in the adrenal glands.

There are three different types of adrenal cancer which vary by location and the age at which they are often diagnosed:
• Adrenocortical Carcinoma - The most common type of adrenal cancer which develops in the adrenal cortex (outer part of adrenal gland)
• Neuroblastoma - A childhood cancer that begins in the adrenal medulla (the inner part of the adrenal gland)
• Pheochromocytoma - A neuroendocrine tumor that begins in the adrenal medulla

The signs and symptoms associated with the condition largely depend on if the cancer is 'functioning' (producing hormones) or 'nonfunctioning' (not producing hormones) and which hormones are present in excess.

Categories

• Blood Diseases
• Endocrine Diseases
• Female Reproductive Diseases
• Kidney and Urinary Diseases
• Male Reproductive Diseases
• Rare Cancers

Cause Classification: Medical
Cross Reference: Cancer Causes And Their Associated Cancer Ribbon Colors


Adrenoleukodystrophy

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

Adrenoleukodystrophy is also known as:
• Addison Disease with Cerebral Sclerosis
• Adrenomyeloneuropathy
• ALD
• AMN
• Bronze Schilder Disease
• Melanodermic Leukodystrophy
• Schilder Disease
• Siemerling-Creutzfeldt Disease
• Sudanophilic Leukodystrophy
• X-ALD

What is Adrenoleukodystrophy?
Adrenoleukodystrophy is an X-linked recessive genetic disorder caused by an abnormality in the ABCD1 gene on the X chromosome. This condition affects the white matter of the nervous system and the adrenal cortex. Some affected individuals have adrenal insufficiency, leading to abnormalities in blood pressure, heart rate, sexual development and reproduction. Some of those affected experience serious neurological problems that can affect mental function and lead to disability and reduced life span. This condition has been categorized into six types based on symptoms and age of onset: childhood cerebral ALD, adolescent cerebral ALD, adrenomyeloneuropathy, adult cerebral ALD, adrenal insufficiency only and ALD that occurs in females.

Categories

• Nervous System Diseases

Cause Classification: Medical


Adult Lymphoblastic Leukemia (ALL)

Awareness Ribbon Color:

Orange Ribbon for Adult Lymphoblastic Leukemia (ALL)

Adult Lymphoblastic Leukemia (ALL) is also known as:
• Adult NCL
• ANCL
• Kufs Syndrome
• Kufs Disease
• Neuronal Ceroid Lipofuscinosis, Adult Type

What is Adult Lymphoblastic Leukemia (ALL)?
Adult Neuronal Ceroid Lipofuscinosis (ANCL) is a general term for several rare genetic disorders that belong to a group of progressive, degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses (NCLs). These disorders share certain similar symptoms and are distinguished in part by the age at which such symptoms appear. The NCLs as a group are characterized by abnormal accumulation of certain fatty, granular substances within nerve cells of the brain as well as other tissues of the body. This is accompanied by progressive deterioration of certain areas of the brain, neurological impairment, and other characteristic symptoms and physical findings.

Categories

• Rare Cancers

Cause Classification: Medical


Adult Neuronal Ceroid Lipofuscinosis

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Adult Neuronal Ceroid Lipofuscinosis is also known as:
• Adult NCL
• ANCL
• CLN4 Disease, Adult Autosomal Dominant
• Kuf's Disease
• Kufs Disease
• Neuronal Ceroid Lipofuscinosis 4

Subdivisions of Adult Neuronal Ceroid Lipofuscinosis
• Autosomal Recessive Neuronal Ceroid Lipofuscinosis 4A

What is Adult Neuronal Ceroid Lipofuscinosis?
Adult Neuronal Ceroid Lipofuscinosis is a rare condition that affects the nervous system. Signs and symptoms usually begin around age thirty, but they can develop anytime between adolescence and late adulthood. There are two forms of Adult Neuronal Ceroid Lipofuscinosis that are differentiated by their underlying genetic cause, mode of inheritance and certain symptoms.

Categories

• Neuronal Ceroid Lipofuscinosis

Cause Classification: Medical


Adult Onset Still’s Disease (AOSD)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Adult Onset Still’s Disease (AOSD) is also known as:
• Adult Still's Disease
• AOSD
• Wissler-Fanconi Syndrome

What is Adult Onset Still’s Disease (AOSD)?
Adult Onset Still's Disease (AOSD) is a rare inflammatory disorder that affects the entire body. Affected individuals may develop episodes of high, spiking fevers, a pink or salmon colored rash, joint pain, muscle pain, a sore throat and other symptoms associated with systemic inflammatory disease. In some individuals, the disorder appears suddenly, disappears almost as quickly and may not return. In other people, adult onset Still's disease is a chronic, potentially disabling, condition.

Categories

• Kidney and Urinary Diseases
• Musculoskeletal Diseases

Cause Classification: Medical


Adult Polyglucosan Body Disease (APBD)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Adult Polyglucosan Body Disease (APBD) is also known as:
• APBD
• Polyglucosan Body Disease, Adult Form

What is Adult Polyglucosan Body Disease (APBD)?
Adult Polyglucosan Body Disease (APBD) is a rare, genetic disorder characterized by a deficiency of glycogen-branching enzyme, resulting in the accumulation of polyglucosan bodies in muscle, nerve and various other tissues of the body. APBD may be characterized by dysfunction of the central and peripheral nervous systems.

Categories

• Congenital and Genetic Diseases
• Digestive Diseases
• Heart Diseases
• Metabolic Disorders
• Nervous System Diseases

Cause Classification: Medical


AEC Syndrome

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

AEC Syndrome is also known as:
• Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
• Ankyloblepharon-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
• Hay-Wells Syndrome
• Rapp-Hodgkin Syndrome

What is AEC Syndrome?
Ankyloblepharon-Ectodermal Dysplasia-Cleft Lip/Palate (AEC) Syndrome, which is also known as Hay-Wells syndrome, is a rare disorder characterized by a wide variety of symptoms that can affect the skin, hair, nails, teeth, certain glands, and the hands and feet.

Categories

• Congenital and Genetic Diseases
• Ear, Nose, and Throat Diseases
• Eye Diseases
• Mouth Diseases
• Musculoskeletal Diseases
• Skin Diseases

Cause Classification: Medical


African Iron Overload

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

African Iron Overload is also known as:
• African Siderosis
• Bantu Siderosis

What is African Iron Overload?
African Iron Overload is a rare disorder characterized abnormally elevated levels of iron in the body. The name originates from the initial description of this entity in sub-Saharan Africa, in communities where affected individuals drink a traditional, homemade beer that contains a high amount of iron. Symptoms can include the accumulation of fibrous tissue in the liver and, eventually, scarring of the liver.

Categories

• Congenital and Genetic Diseases
• Digestive Diseases
• Metabolic Disorders

Cause Classification: Medical


Agammaglobulinemia

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Agammaglobulinemia is also known as:
• Hypogammaglobulinemia

Subdivisions of Agammaglobulinemia
• Autosomal Recessive Agammaglobulinemia
• X-Linked Agammaglobulinemia with Growth Hormone Deficiency
• X-Linked Agammaglobulinemia (XLA)

What is Agammaglobulinemia?
Agammaglobulinemia is a group of inherited immune deficiencies characterized by a low concentration of antibodies in the blood due to the lack of particular lymphocytes in the blood and lymph.

Categories

• Congenital and Genetic Diseases
• Immune System Diseases

Cause Classification: Medical


Agenesis of Corpus Callosum (ACC)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Agenesis of Corpus Callosum is also known as:
• ACC
• Corpus Callosum, Agenesis

Subdivisions of Agenesis of Corpus Callosum (ACC)
• Acquired Form of ACC
• Aicardi Syndrome
• Autosomal Recessive Inheritance ACC (e.g. Andermann syndrome)
• X-Linked Dominant Inheritance ACC (e.g. ARX)

What is Agenesis of Corpus Callosum (ACC)?
Agenesis of Corpus Callosum (ACC) is a rare disorder that is present at birth. It is characterized by a partial or complete absence of an area of the brain that connects the two cerebral hemispheres.

Categories

• Congenital and Genetic Diseases
• Eye Diseases
• Nervous System Diseases
• Rare Cancers

Cause Classification: Medical


Agranulocytosis, Acquired

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Agranulocytosis, Acquired is also known as:
• Agranulocytic Angina
• Granulocytopenia, Primary
• Neutropenia, Malignant

What is Agranulocytosis, Acquired?
Acquired agranulocytosis is a rare, drug-induced blood disorder that is characterized by a severe reduction in the number of white blood cells in the circulating blood.

Categories

• Blood Diseases

Cause Classification: Medical


Ahumada-Del Castillo Syndrome

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Ahumada-Del Castillo Syndrome is also known as:
• Amenorrhea-Galactorrhea-FSH Decrease Syndrome
• Argonz-Del Castillo Syndrome
• Galactorrhea-Amenorrhea without Pregnancy
• Nonpuerperal Galactorrhea-Amenorrhea

What is Ahumada-Del Castillo Syndrome?
Ahumada-Del Castillo Syndrome is a rare endocrine disorder affecting adult females, which is characterized by impairment in the function of the pituitary and hypothalamus glands. Symptoms may include the production of breast milk not associated with nursing and the absence of menstrual periods due to the lack of monthly ovulation.

Categories

• Endocrine Diseases

Cause Classification: Medical


Aicardi Syndrome

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Aicardi Syndromeis also known as:
• Agenesis of Corpus Callosum with Chorioretinitis Abnormality
• Agenesis of Corpus Callosum with Infantile Spasms and Ocular Anomalies
• Callosal Agenesis and Ocular Abnormalities
• Chorioretinal Anomalies with ACC
• Corpus Callosum, Agenesis of Chorioretinal Abnormality

What is Aicardi Syndrome?
Aicardi Syndrome is an extremely rare genetic disorder. Almost all people with Aicardi Syndrome are females. Individuals with Aicardi syndrome have agenesis of the corpus callosum, chorioretinal lacunae and seizures. Agenesis of the corpus callosum means that the structure that connects the right half of the brain with the left half of the brain (corpus callosum) does not develop normally.

Categories

• Congenital and Genetic Diseases
• Eye Diseases
• Nervous System Diseases
• Rare Cancers

Cause Classification: Medical


AIDS Dysmorphic Syndrome

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

AIDS Dysmorphic Syndrome is also known as:
• Dysmorphic Acquired Immune Deficiency Syndrome
• Dysmorphic AIDS
• Fetal Acquired Immune Deficiency Syndrome (AIDS)
• Fetal AIDS Infection
• Fetal Effects of AIDS
• HIV Embryopathy
• Perinatal AIDS

What is AIDS Dysmorphic Syndrome?
The term "AIDS Dysmorphic Syndrome" or "HIV Embryopathy" has been used by some researchers to describe specific facial malformations, an unusually small head, and growth deficiency in some infants infected with HIV. Such craniofacial abnormalities have included a prominent, boxlike forehead, large, wide eyes; a flattened nasal bridge, and an unusually pronounced philtrum, which is the vertical groove in the center of the upper lip.

Categories

• Immune System Diseases

Cause Classification: Medical


Awareness Ribbon Color:

Yellow Ribbon for Kaposi Sarcoma
Zebra Ribbon for Rare Diseases

What is AIDS-Related Cancer - Kaposi Sarcoma?
Kaposi Sarcoma is a disease in which malignant lesions (cancer) can form in the skin, mucous membranes, lymph nodes, and other organs. The lesions are usually purple and are made of cancer cells, new blood vessels, red blood cells, and white blood cells. Kaposi Sarcoma is different from other cancers in that lesions may begin in more than one place in the body at the same time. Human herpesvirus-8 (HHV-8) is found in the lesions of all patients with Kaposi sarcoma. This virus is also called Kaposi Sarcoma herpesvirus (KSHV). Most people with HHV-8 do not get Kaposi Sarcoma. People with HHV-8 are more likely to develop Kaposi Sarcoma if their immune system is weakened by disease, such as human immunodeficiency virus (HIV), or by drugs given after an organ transplant.

Categories

• Congenital and Genetic Diseases
• Rare Cancers
• Viral infections

Cause Classification: Medical
Cross Reference: Cancer Causes And Their Associated Cancer Ribbon Colors


Awareness Ribbon Color:

Lime Green Ribbon for AIDS-Related Lymphoma

What is AIDS-Related Lymphoma?
AIDS-Related Lymphoma is a disease in which malignant (cancer) cells form in the lymph system of patients who have acquired immunodeficiency syndrome (AIDS). A weakened immune system is unable to fight infection and disease. People with HIV disease have an increased risk of infection and lymphoma or other types of cancer. Sometimes, people are diagnosed with AIDS and AIDS-related lymphoma at the same time. AIDS-Related Lymphoma is a type of cancer that affects the lymph system.

Categories

• Rare Cancers

Cause Classification: Medical
Cross Reference: Cancer Causes And Their Associated Cancer Ribbon Colors


Awareness Ribbon Color:

Lime Green Ribbon for AIDS-Related Primary CNS Lymphoma

What is AIDS-Related Primary CNS Lymphoma?
Primary Central Nervous System (CNS) Lymphoma is defined as lymphoma limited to the cranial-spinal axis without systemic disease. An increasing incidence of this disease has been seen among patients with AIDS and among other immunocompromised persons.

Categories

• Blood Diseases
• Nervous System Diseases
• Rare Cancers

Cause Classification: Medical
Cross Reference: Cancer Causes And Their Associated Cancer Ribbon Colors


ALAD Porphyria

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

ALAD Porphyria is also known as:
• ADP
• ALAD Deficiency
• ALA-Dehydratase Deficient Porphyria
• Delta-Aminolevulinate Dehydratase Deficiency
• Doss Porphyria
• Porphyria of Doss

What is ALAD Porphyria?
ALAD Porphyria is a very rare genetic metabolic disease characterized by almost complete deficiency of the enzyme delta-aminolevulinic acid (ALA) dehydratase. Deficiency of this enzyme leads to the accumulation of the porphyrin precursor ALA, which can potentially result in a variety of symptoms. Symptoms usually come from the neurological and gastrointestinal systems.

Categories

• Acute Intermittent Porphyria
• Aminolevulinate Dehydratase Deficiency Porphyria
• Congenital Erythropoietic Porphyria
• Erythropoietic Protoporphyria
• Hepatoerythropoietic Porphyria
• Hereditary Coproporphyria
• Porphyria Cutanea Tarda
• Protoporphyria
• Variegate Porphyria

Cause Classification: Medical


Alagille Syndrome

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

Alagille Syndrome is also known as:
• Alagille-Watson Syndrome
• Arteriohepatic Dysplasia
• Cholestasis with Peripheral Pulmonary Stenosis
• Syndromic Bile Duct Paucity

What is Alagille Syndrome?
Alagille Syndrome is a rare genetic disorder that can affect multiple organ systems of the body including the liver, heart, skeleton, eyes and kidneys. Some individuals may have mild forms of the disorder while others may have more serious forms. Common symptoms, which often develop during the first three months of life, include blockage of the flow of bile from the liver, yellowing of the skin and mucous membranes, poor weight gain and growth, severe itching and pale, loose stools. Additional symptoms include heart murmurs, congenital heart defects, vertebral differences, thickening of the ring that normally lines the cornea in the eye and distinctive facial features.

Categories

• Congenital and Genetic Diseases

Cause Classification: Medical


Alexander Disease

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Alexander Disease is also known as:
• Dysmyelogenic Leukodystrophy
• Dysmyelogenic Leukodystrophy-Megalobare
• Fibrinoid Degeneration of Astrocytes
• Fibrinoid Leukodystrophy
• Hyaline Panneuropathy
• Leukodystrophy with Rosenthal Fibers
• Megalencephaly with Hyaline Inclusion
• Megalencephaly with Hyaline Panneuropathy

What is Alexander Disease?
Alexander Disease is an extremely rare, usually progressive and fatal, neurological disorder. Alexander Disease has historically been included among the leukodystrophies, diseases of the white matter of the brain. These diseases affect the fatty material that forms an insulating wrapping around certain nerve fibers. The unifying feature among all Alexander Disease patients, however, is the presence of abnormal protein aggregates known as "Rosenthal fibers" throughout certain regions of the brain and spinal cord. These aggregates occur inside astrocytes, a common cell type in the CNS that helps maintain a normal CNS environment.

Catorigies

• Congenital and Genetic Diseases
• Eye Diseases
• Nervous System Diseases

Cause Classification: Medical


Alkaptonuria

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

Alkaptonuria is also known as:
• AKU
• Alcaptonuria

What is Alkaptonuria?
Alkaptonuria is a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. Affected individuals lack enough functional levels of an enzyme required to break down homogentisic acid. Affected individuals may have dark urine or urine that turns black when exposed to air. However, this change may not occur for several hours after urination and often goes unnoticed. Affected individuals eventually develop ochronosis, which is the bluish-black discoloration of connective and other tissue within the body.

Categories

• Congenital and Genetic Diseases
• Eye Diseases
• Metabolic Disorders

Cause Classification: Medical


Alopecia Areata

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Alopecia Areata is also known as:
• Alopecia Celsi
• Alopecia Cicatrisata
• Alopecia Circumscripta
• Cazenave's Vitiligo
• Celsus' Vitiligo
• Jonston's Alopecia
• Porrigo Decalvans
• Vitiligo Capitis

Subdivisions of Alopecia Areata
• Alopecia Seminuniversalis
• Alopecia Totalis
• Alopecia Universalis

What is Alopecia Areata?
Alopecia Areata is a disorder characterized by loss of hair. Sometimes, this means simply a few bare patches on the scalp. In other cases, hair loss is more extensive. Although the exact cause is not known, this is thought to be an autoimmune disorder in which the immune system, the body's own defense system, mistakenly attacks the hair follicles, the tiny structures from which hairs grow. Unpredictable hair loss is the only noticeable symptom of this disorder. Regrowth of hair may or may not occur. Hair loss is usually confined to the head and face, although the entire body may be involved.

Categories

• Immune System Diseases

Cause Classification: Medical


Alpers Disease

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Alpers Disease is also known as:
• Alpers Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis
• Alpers Progressive Infantile Poliodystrophy
• Diffuse Cerebral Degeneration in Infancy
• Poliodystrophia Cerebri Progressiva
• Progressive Cerebral Poliodystrophy

What is Alpers Disease?
Alpers Disease is a progressive neurologic disorder that begins during childhood and is complicated in many instances by serious liver disease. Symptoms include increased muscle tone with exaggerated reflexes, seizures, and loss of cognitive ability.

Categories

• Congenital and Genetic Diseases
• Digestive Diseases
• Metabolic Disorders
• Nervous System Diseases

Cause Classification: Medical


Alpha Thalassemia

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Alpha Thalassemia is also known as:
• Alpha Thalassemia Silent Carrier
• Alpha Thalassemia Minor (Trait)
• Hemoglobin H (HbH) Disease
• Hemoglobin H-Constant Spring
• Hb Bart's Hydrops Fetalis

What is Alpha Thalassemia?
Alpha Thalassemia is a general term for a group of inherited blood disorders characterized by reduced or absent production of alpha-globin subunits, resulting in low levels of hemoglobin that is otherwise fully functional. There are two main forms of Alpha Thalassemia that are associated with significant health problems – hemoglobin (Hb) Bart’s hydrops fetalis and hemoglobin H (HbH) disease.

Categories

• Blood Diseases

Cause Classification: Medical


Alpha Thalassemia X-Linked Intellectual Disability (ATR-X) Syndrome

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

Alpha Thalassemia X-Linked Intellectual Disability (ATR-X) Syndrome is also known as:
• ATR-X Syndrome
• Carpenter-Waziri Syndrome
• Cerebrofaciogenital Syndrome
• Chudley-Lowry Syndrome
• Holmes-Gang Syndrome
• XLID-Hypotonic Face Syndrome
• X-Linked Intellectual Disability - Arch Fingerprints- Hypotonia Syndrome

What is Alpha Thalassemia X-Linked Intellectual Disability (ATR-X) Syndrome?
Alpha Thalassemia X-Linked Intellectual Disability (ATR-X) Syndrome is a rare genetic disorder affecting multiple organ systems of the body. ATR-X syndrome is characterized by intellectual disability, characteristic facial features, abnormalities of the genitourinary tract, and alpha thalassemia.

Categories

• Blood Diseases
• Congenital and Genetic Diseases
• Endocrine Diseases
• Female Reproductive Diseases
• Kidney and Urinary Diseases
• Nervous System Diseases

Cause Classification: Medical


Alpha-1 Antitrypsin Deficiency (A1AD)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Alpha-1 Antitrypsin Deficiency (A1AD) is also known as:
• A1AD
• AATD
• Genetic Emphysema

What is Alpha-1 Antitrypsin Deficiency (A1AD)?
Alpha-1 Antitrypsin Deficiency (A1AD) is a hereditary disorder characterized by low levels of a protein called alpha-1 antitrypsin (A1AT) which is found in the blood. This deficiency may predispose an individual to several illnesses and most commonly manifests as chronic obstructive pulmonary disease and liver disease, or more rarely, as a skin condition called panniculitis. A1AD is also more frequent among individuals with Wegener's granulomatosis, now called polyangiitis with granulomatosis.

Categories

• Congenital and Genetic Diseases
• Digestive Diseases
• Kidney and Urinary Diseases
• Lung Diseases
• Metabolic Disorders
• Newborn Screening

Cause Classification: Medical


Alpha-Mannosidosis

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

Alpha-Mannosidosis is also known as:
• Alpha-Mannosidase B Deficiency
• Lysosomal Alpha-D-Mannosidase Deficiency
• Mannosidase, Alpha B, Lysosomal
• Mannosidosis
• Mannosidosis, Alpha B, Lysosomal

Subdivisions of Alpha-Mannosidosis
• Alpha-Mannosidosis, Type I
• Alpha-Mannosidosis, Type II
• Alpha-Mannosidosis, Type III

What is Alpha-Mannosidosis?
Alpha-Mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-Mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressive form (type 1); a moderate form (type 2); and a severe, often rapidly progressive and potentially life-threatening form (type 3). Symptoms may include distinctive facial features, skeletal abnormalities, hearing loss, intellectual disability, and dysfunction of the immune system.

Categories

• Congenital and Genetic Diseases
• Eye Diseases
• Heart Diseases
• Metabolic Disorders
• Musculoskeletal Diseases
• Nervous System Diseases

Cause Classification: Medical


Alport Syndrome

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

Alport Syndrome is also known as:
• Hematuria-Nephropathy Deafness
• Hemorrhagic Familial Nephritis
• Hereditary Deafness and Nephropathy
• Hereditary Nephritis
• Hereditary Nephritis with Sensory Deafness

Subdivisions of Alport Syndrome
• Autosomal Dominant Alport Syndrome (ADAS)
• Autosomal Recessive Alport Syndrome (ARAS)
• COL4A3-Related Nephropathy
• COL4A4-Related Nephropathy
• COL4A5-Related Nephropathy
• X-Linked Alport Syndrome (XLAS)

What is Alport Syndrome?
Alport Syndrome is a rare genetic disorder characterized by progressive kidney disease and abnormalities of the ears and eyes. There are three genetic types. X-linked Alport Syndrome (XLAS) is the most common; in these families affected males typically have more severe disease than affected females. In autosomal recessive Alport Syndrome (ARAS) the severity of disease in affected males and females is similar. There is also an autosomal dominant form (ADAS) that affects males and females with equal severity. The hallmark of the disease is the appearance of blood in the urine early in life, with progressive decline in kidney function that ultimately results in kidney failure, especially in affected males. Females with XLAS usually do not develop kidney insufficiency until later in life. They may not develop kidney insufficiency or failure at all, but the risk increases as they grow older.

Categories

• Congenital and Genetic Diseases
• Ear, Nose, and Throat Diseases
• Eye Diseases
• Kidney and Urinary Diseases

Cause Classification: Medical


Alström Syndrome

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

Alström Syndrome is also known as:
• ALMS
• Alstrom-Halgren Syndrome

What is Alström Syndrome?
Alström Syndrome is a rare complex genetic disorder that is associated with a wide variety of symptoms affecting multiple organ systems of the body. The disorder is generally characterized by vision and hearing abnormalities, and obesity in childhood, insulin resistance, diabetes mellitus, heart disease and slowly progressive kidney dysfunction, potentially leading to renal failure. Additional symptoms including lung, liver, kidney, and endocrine dysfunction can also occur. Although some children may experience delays in attaining developmental milestones, intelligence is usually unaffected.

Categories

• Congenital and Genetic Diseases
• Ear, Nose, and Throat Diseases
• Endocrine Diseases
• Eye Diseases
• Heart Diseases
• Kidney and Urinary Diseases

Cause Classification: Medical


Alternating Hemiplegia of Childhood (AHC)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Alternating Hemiplegia of Childhood (AHC) is also known as:
• AHC
• Alternating Hemiplegia Syndrome

What is Alternating Hemiplegia of Childhood?
Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by repeated episodes of weakness or paralysis that may affect one side of the body or the other or both sides of the body at once. Additional episodic symptoms usually include intermittent abnormal eye movements, episodes of muscle stiffness or posturing, and in a substantial percentage of cases, seizures. Delays in attaining developmental milestones, cognitive impairment, and persistent issues with balance and the presence of continuous dance-like movements of limbs or facial muscles may occur independently of episodes of paralysis, weakness or stiffness and persist between episodes.

Categories

• Congenital and Genetic Diseases
• Nervous System Diseases

Cause Classification: Medical


Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins is also known as:
• ACDMPV
• Alveolar Capillary Dysplasia

What is Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins?
Alveolar Capillary Dysplasia with Misalignment of the pulmonary veins is a very rare disorder that is present at birth. Infants experience severe, life-threatening breathing problems and high blood pressure in the blood vessels of the lungs. These problems may occur within a few hours of birth.

Categories

• Congenital and Genetic Diseases
• Lung Diseases

Cause Classification: Medical


Alveolar Soft Part Sarcoma (ASPS)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Alveolar Soft Part Sarcoma (ASPS) is also known as:
• Alveolar Sarcoma of Soft Parts
• Alveolar Soft-Tissue Sarcoma
• ASPS
• ASP Sarcoma

What is Alveolar Soft Part Sarcoma (ASPS)?
Alveolar Soft Part Sarcoma (ASPS) is a rare, slow growing soft tissue tumor of an unclear cause. It is among the least common sarcomas. ASPS is characterized by a painless mass that most commonly arises in the leg or buttock, with a particular affinity to travel to the lungs as multiple nodules, presumably while the sarcoma itself is still small.

Categories

• Rare Cancers

Cause Classification: Medical


Alveolitis, Extrinsic Allergic

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Alveolitis, Extrinsic Allergic is also known as:
• Allergic Interstitial Pneumonitis
• Extrinsic Allergic Pneumonia
• Hypersensitivity Pneumonitis

What is Alveolitis, Extrinsic Allergic?
Extrinsic Allergic Alveolitis is a lung disorder resulting from repeated inhalation of organic dust, usually in a specific occupational setting. In the acute form, respiratory symptoms and fever begin several hours after exposure to the dust. The chronic form is characterized by gradual changes in the lung tissue associated with several years of exposure to the irritant.

Categories

• Interstitial Lung Diseases

Cause Classification: Medical


Ameloblastic Carcinoma

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

What is Ameloblastic Carcinoma?
Ameloblastic Carcinoma is a rare malignant (cancerous) tumor that normally begins in the bones of the jaw. It is classified as an odontogenic tumor, meaning that it arises from the epithelium that forms the enamel of the teeth. The pattern of epithelial growth is similar to the developing tooth germ and distinctive enough to separate it from other epithelial malignances. Ameloblastic carcinoma may metastasize to affect other organs of the body.

Categories

• Mouth Diseases
• Rare Cancers

Cause Classification: Medical


Ameloblastoma

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Ameloblastoma is also known as:
• Adamantinoma
• Mandibular Ameloblastoma
• Maxillary Ameloblastoma
• Odontogenic Tumor

What is Ameloblastoma?
Ameloblastoma is a rare disorder of the jaw involving abnormal tissue growth. The resulting tumors or cysts are usually not malignant (benign) but the tissue growth may be aggressive in the involved area. On occasion, tissue near the jaws, such as around the sinuses and eye sockets, may become involved as well. The tissues involved are most often those that give rise to the teeth so that ameloblastoma may cause facial distortion. Malignancy is uncommon as are metastases.

Categories

• Congenital and Genetic Diseases
• Endocrine Diseases
• Nervous System Diseases
• Rare Cancers

Cause Classification: Medical


Amelogenesis Imperfecta (AI)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Amelogenesis Imperfecta (AI) is also known as:
• AI

Subdivisions of Amelogenesis Imperfecta (AI)
• Hypoplastic (Type I)
• Hypomaturation (Type II)
• Hypocalcified (Type III)
• Hypomaturation/Hypoplasia/Taurodontism (Type IV)

What is Amelogenesis Imperfecta?
Amelogenesis Imperfecta (AI) refers to a group of rare, inherited disorders characterized by abnormal enamel formation. The term is typically restricted to those disorders of enamel development not associated with other abnormalities of the body.

Categories

• Congenital and Genetic Diseases

Cause Classification: Medical


Amniotic Band Syndrome

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Amniotic Band Syndrome is also known as:
• ABS
• Amnion Rupture Sequence
• Amniotic Bands
• Amniotic Band Sequence
• Amniotic Deformity, Adhesions, Mutilations (ADAM) Complex
• Congenital Constriction Rings
• Constriction Band Syndrome
• Limb Body Qall Complex
• Streeter Anomaly
• Streeter Bands
• Streeter Dysplasia

What is Amniotic Band Syndrome?
Amniotic Band Syndrome is a well-known condition potentially associated with a variety of different birth defects. The abnormalities occur after the affected parts of the body have formed normally in early development. The severity of amniotic band syndrome can range from a single, isolated finding to multiple, disfiguring complications.

Categories

• Congenital and Genetic Diseases

Cause Classification: Medical


Amyloidosis

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Amyloidosis is also known as:
• AL Amyloidosis
• ATTR Amyloidosis – ATTRm or ATTRwt Amyloidosis
• AA Amyloidosis
• Dialysis-Related Beta2-Microglobulin Amyloidosis (ABM2)

What is Amyloidosis?
Amyloidosis is a systemic disorder that is classified into several types. The different types of amyloidosis are classified as systemic or localized. AL amyloidosis is the most common type of systemic amyloidosis. AL amyloidosis results from an abnormality of a type of white blood cell called plasma cells in the bone marrow, and is closely related to multiple myeloma.

Categories

• Metabolic Disorders

Cause Classification: Medical


Amyotrophic Lateral Sclerosis (ALS)

Awareness Ribbon Color:

Blue and White Pinstripes Ribbon for Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis (ALS) is also known as:
• ALS
• Amyotrophic Lateral Sclerosis-Polyglucosan Bodies
• Aran-Duchenne Muscular Atrophy
• Gehrig's Disease
• Lou Gehrig's Disease
• Motor System Disease (Focal and Slow)

Subdivisions of Amyotrophic Lateral Sclerosis (ALS)
• Benign Focal Amyotrophy of ALS
• Infantile Spinal Muscular Atrophy, ALS
• Juvenile Spinal Muscular Atrophy, Included
• Kugelberg-Welander Disease
• Primary Lateral Sclerosis
• Progressive Bulbar Palsy, Included
• Spinal Muscular Atrophy, Type ALS
• Upper Motor Neuron Disease
• Werdnig-Hoffman Disease
• Wohlfart-Disease

What is Amyotrophic Lateral Sclerosis (ALS)?
Amyotrophic Lateral Sclerosis (ALS) is one of a group of disorders known as motor neuron diseases. It is characterized by the progressive degeneration and eventual death of nerve cells in the brain, brainstem and spinal cord that facilitate communication between the nervous system and voluntary muscles of the body. Ordinarily, motor neurons in the brain send messages to motor neurons in the spinal cord and then to various muscles. ALS affects both the upper and lower motor neurons, so that the transmission of messages is interrupted, and muscles gradually weaken and waste away. As a result, the ability to initiate and control voluntary movement is lost. Ultimately, ALS leads to respiratory failure because affected individuals lose the ability to control muscles in the chest and diaphragm. ALS is often called Lou Gehrig's disease.

Categories

• Nervous System Diseases

Cause Classification: Medical


Anal Cancer

Awareness Ribbon Color:

Blue Ribbon for Anal Cancer

What is Anal Cancer?
Anal Cancer is a disease in which malignant (cancer) cells form in the tissues of the anus. Anal cancer cases have been increasing over several decades. Infection with human papillomavirus (HPV) is the major risk factor for anal cancer.

Categories

• Rare Cancers

Cause Classification: Medical
Cross Reference: Cancer Causes And Their Associated Cancer Ribbon Colors


Anaplastic Astrocytoma

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Anaplastic Astrocytoma is also known as:
• Astrocytoma, Grade III
• Malignant Astrocytoma, Grade III

What is Anaplastic Astrocytoma?
Anaplastic Astrocytoma is a rare malignant brain tumor. Astrocytomas are tumors that develop from certain star-shaped brain cells called astrocytes. Astrocytes and similar cells form tissue that surrounds and protects other nerve cells found within the brain and spinal cord. Collectively, these cells are known as glial cells and the tissue they form is known as glial tissue. Tumors that arise from glial tissue, including astrocytomas, are collectively referred to as gliomas.

Categories

• Nervous System Diseases
• Rare Cancers

Cause Classification: Medical


Andersen Disease (GSD IV)

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

Andersen Disease (GSD IV) is also known as:
• Amylopectinosis
• Andersen Glycogenosis
• Brancher Deficiency
• Branching Enzyme Deficiency
• Glycogenosis Type IV
• Glycogen Storage Disease IV

What is Andersen Disease (GSD IV)?
Andersen Disease belongs to a group of rare genetic disorders of glycogen metabolism, known as glycogen storage diseases. Glycogen is a complex carbohydrate that is converted into the simple sugar glucose for the body's use as energy. Glycogen storage diseases are characterized by deficiencies of certain enzymes involved in the metabolism of glycogen, leading to an accumulation of abnormal forms or amounts of glycogen in various parts of the body, particularly the liver and muscle.

Categories

• Congenital and Genetic Diseases
• Heart Diseases
• Nervous System Diseases

Cause Classification: Medical


Andersen-Tawil Syndrome

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

Andersen-Tawil Syndrome is also known as:
• Andersen Syndrome
• ATS
• Long QT Syndrome 7
• LQTS7

What is Andersen-Tawil Syndrome?
Andersen-Tawil Syndrome is a rare genetic disorder characterized by episodes of muscle weakness and paralysis, abnormalities affecting the electrical system of the heart that can cause abnormal heart rhythms, and a variety of distinctive facial and skeletal features.

Categories

• Congenital and Genetic Diseases
• Heart Diseases
• Nervous System Diseases
• RDCRN

Cause Classification: Medical


Androgen Insensitivity Syndrome, Partial

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Androgen Insensitivity Syndrome, Partial is also known as:
• Gilbert-Dreyfus Syndrome
• Incomplete Testicular Feminization
• Lubs Syndrome
• Reifenstein Syndrome
• Rosewater Syndrome
• Type I Familial Incomplete Male Pseudohermaphroditism

What is Androgen Insensitivity Syndrome, Partial?
Androgen Insensitivity refers to an inability of the body to respond properly to male sex hormones produced during pregnancy.

Categories

• Male Reproductive Diseases

Cause Classification: Medical


Anemia of Chronic Disease

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Anemia of Chronic Disease is also known as:
• Anemia of Chronic Inflammation
• Anemia of Inflammation

What is Anemia of Chronic Disease?
Anemia of Chronic Disease, also called the Anemia of Inflammation, is a condition that can be associated with many different underlying disorders including chronic illnesses such as cancer, certain infections, and autoimmune and inflammatory diseases such as rheumatoid arthritis or lupus. Anemia is characterized by low levels of circulating red blood cells or hemoglobin, the part of red blood cells that carries oxygen.

Categories

• Blood Diseases

Cause Classification: Medical


Anemia, Blackfan Diamond (BDA)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Anemia, Blackfan Diamond (BDA) is also known as:
• Aase-Smith II Syndrome
• Aase Syndrome
• Anemia, Congenital Pure Red Cell
• Aplasia, Congenital Pure Red Cell
• BDA
• Congenital Hypoplastic Anemia
• DBA
• Diamond-Blackfan Anemia
• Erythrogenesis Imperfecta
• Hypoplastic Congenital Anemia
• Inherited Erythroblastopenia

What is Blackfan-Diamond Anemia (BDA)?
Blackfan-Diamond Anemia (BDA) is a rare blood disorder that is caused by a failure of the bone marrow to generate enough red blood cells. It is characterized by deficiency of red blood cells at birth as well as slow growth, abnormal weakness and fatigue, paleness of the skin, characteristic facial abnormalities, protruding shoulder blades, webbing or abnormal shortening of the neck due to fusion of certain bones in the spine, hand deformities, congenital heart defects, and/or other abnormalities.

Categories

• Blood Diseases
• Congenital and Genetic Diseases
• Ear, Nose, and Throat Diseases
• Metabolic Disorders
• Mouth Diseases
• Rare Cancers

Cause Classification: Medical


Anemia, Hemolytic, Acquired Autoimmune

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Anemia, Hemolytic, Acquired Autoimmune is also known as:
• Anemia, Idiopathic Autoimmune Hemolytic
• Autoimmune Hemolytic Anemia
• Idiopathic Autoimmune Hemolytic Anemia
• Immune Hemolytic Anemia

Subdivisions of Anemia, Hemolytic, Acquired Autoimmune
• Anemia, Cold Antibody Hemolytic
• Anemia, Warm Antibody Hemolytic

What is Anemia, Hemolytic, Acquired Autoimmune?
The Autoimmune Hemolytic Anemias are rare disorders characterized by the premature destruction of red blood cells at a rate faster than they can be replaced. The severity of this type of anemia is determined by the life span of the red blood cell and by the rate at which these cells are replaced by the bone marrow.

Catagories

• Autoimmune Diseases
• Autoinflammatory Diseases

Cause Classification: Medical


Anemia, Hemolytic, Cold Antibody (CAHA)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Anemia, Hemolytic, Cold Antibody (CAHA) is also known as:
• Anemia, Autoimmune Hemolytic
• Cold Agglutinin Disease
• Cold Antibody Disease

What is Anemia, Hemolytic, Cold Antibody (CAHA)?
Cold Antibody Hemolytic Anemia (CAHA) is a rare autoimmune disorder characterized by the premature destruction of red blood cells by the body's natural defenses against invading organisms. Normally, the red blood cells have a life span of approximately 120 days before they are destroyed by the spleen. In individuals with CAHA, the red blood cells are destroyed prematurely and the rate of production of new cells in the bone marrow can no longer compensate for their loss.

Categories

• Blood Diseases

Cause Classification: Medical


Anemia, Hereditary Nonspherocytic Hemolytic

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Anemia, Hereditary Nonspherocytic Hemolytic is also known as:
• Congenital Nonspherocytic Hemolytic Anemia
• HNHA
• NSA
• NSHA

What is Anemia, Hereditary Nonspherocytic Hemolytic?
Hereditary Nonspherocytic Hemolytic Anemia is a term used to describe a group of rare, genetically transmitted blood disorders characterized by the premature destruction of red blood cells. If the red blood cells cannot be replaced faster than they destroy themselves, anemia is the result.

Categories

• Blood Diseases

Cause Classification: Medical


Anemia, Hereditary Spherocytic Hemolytic

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Anemia, Hereditary Spherocytic Hemolytic is also known as:
• Acholuric Jaundice
• Chronic Acholuric Jaundice
• Congenital Hemolytic Anemia
• Congenital Hemolytic Jaundice
• Congenital Spherocytic Anemia
• Hereditary Spherocytosis
• HS
• Icterus (Chronic Familial)
• Minkowski-Chauffard Syndrome
• SPH2
• Spherocytic Anemia
• Spherocytosis

What is Anemia, Hereditary Spherocytic Hemolytic?
Hereditary Spherocytic Hemolytic Anemia is a rare blood disorder characterized by defects within red blood cells that result in a shortened survival time for these cells. Red blood cells normally circulate for a few months and when they die off is replaced by new erythrocytes. However, in hereditary spherocytic hemolytic anemia, the cells die prematurely. The sphere shape of the red blood cells is the hallmark of this disorder, and this abnormality may be identified under a microscope.

Categories

• Blood Diseases
• Congenital and Genetic Diseases

Cause Classification: Medical


Anemia, Megaloblastic

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Anemia, Megaloblastic is also known as:
• Folate Deficiency Anemia
• Folic Acid Deficiency Anemia
• Vitamin B12 Deficiency Anemia

What is Anemia, Megaloblastic?
Megaloblastic Anemia is a condition in which the bone marrow produces unusually large, structurally abnormal, immature red blood cells. Anemia is a condition characterized by the low levels of circulating, red blood cells. Red blood cells are released from the marrow into the bloodstream where they travel throughout the body delivering oxygen to tissue.

Categories

• Blood Diseases

Cause Classification: Medical


Anemia, Pernicious

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Anemia, Pernicious is also known as:
• Addison-Biermer Anemia
• Addisonian Pernicious Anemia
• Addison's Anemia
• Primary Anemia

Subdivisions of Anemia, Pernicious
• Adult Onset Pernicious Anemia
• Congenital Pernicious Anemia due to Defect of Intrinsic Factor
• Enterocyte Cobalamin Malabsorption
• Enterocyte Intrinsic Factor Receptor, Defect of
• Gastric Intrinsic Factor, Failure of Secretion
• Juvenile Intestinal Malabsorption of Vit B12

What is Anemia, Pernicious?
Pernicious Anemia is a rare blood disorder characterized by the inability of the body to properly utilize vitamin B12, which is essential for the development of red blood cells. Most cases result from the lack of the gastric protein known as intrinsic factor, without which vitamin B12 cannot be absorbed.

There is a rare congenital form of Pernicious Anemia in which babies are born lacking the ability to produce effective intrinsic factor. There is also a juvenile form of the disease, but pernicious anemia typically does not appear before the age of 30. The onset of the disease is slow and may span decades. When the disease goes undiagnosed and untreated for a long period of time, it may lead to neurological complications. Nerve cells and blood cells need vitamin B12 to function properly.

Categories

• Blood Diseases
• Not a Rare Disease

Cause Classification: Medical


Anemias, Sideroblastic

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Anemias, Sideroblastic is also known as:
• Acquired Sideroblastic Anemia
• Hereditary Sideroblastic Anemia
• Idiopathic Sideroblastic Anemia

What are Anemias, Sideroblastic?
The Sideroblastic Anemias are a group of blood disorders in which the body has enough iron but is unable to use it to make hemoglobin, which carries oxygen in the blood. As a result, iron accumulates in the mitochondria of red blood cells, giving a ringed appearance to the nucleus. There are three categories of Sideroblastic Anemias: inherited, acquired, and idiopathic.

Categories

• Blood Diseases

Cause Classification: Medical


Anencephaly

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

What is Anencephaly?
Anencephaly is a term that refers to the incomplete development of the brain, skull, and scalp and is part of a group of birth defects called neural tube defects (NTD). The structure which will become the neural tube is supposed to fold and close together during the third and fourth weeks of pregnancy. From this neural tube, the brain and spinal cord of the embryo develop. Neural tube defects happen when the neural tube does not close as expected.

Categories

• Congenital and Genetic Diseases
• Nervous System Diseases

Cause Classification: Medical


Angelman Syndrome

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

Angelman Syndrome is also known as:
• AS
• Happy Puppet Syndrome (obsolete)

What is Angelman Syndrome?
Angelman Syndrome is a rare genetic and neurological disorder characterized by severe developmental delay and learning disabilities, absence or near absence of speech, inability to coordinate voluntary movements, tremulousness with jerky movements of the arms and legs and a distinct behavioral pattern characterized by a happy disposition and unprovoked episodes of laughter and smiling. Although those with the syndrome may be unable to speak, many gradually learn to communicate through other means such as gesturing. In addition, children may have enough receptive language ability to understand simple forms of language communication.

Categories

• Congenital and Genetic Diseases
• RDCRN

Cause Classification: Medical


Angioimmunoblastic T-Cell Lymphoma

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Angioimmunoblastic T-Cell Lymphoma is also known as:
• AILD
• AITL
• Angioimmunoblastic Lymphadenopathy with Dysproteinemia
• Immunoblastic Lymphadenopathy
• Lymphogranulomatosis X

What is Angioimmunoblastic T-Cell Lymphoma?
Angioimmunoblastic T-cell Lymphoma (AITL) is a rare form of non-Hodgkin lymphoma, which is a group of related malignancies (cancers) that affect the lymphatic system (lymphomas). Lymphomas are cancer of white blood cells and can be divided depending on the type of cells, B-lymphocytes (B-cells) or T-lymphocytes (T-cells), AITL is a T-cell lymphoma.

Categories

• Blood Diseases
• Rare Cancers

Cause Classification: Medical


Animal Abuse Prevention

Awareness Ribbon Color:

Purple Ribbon for Animal Abuse Prevention

What is Animal Abuse Prevention?
Preventing animal cruelty is in all of our best interests because studies have shown that cruelty to animals is a sign that other abuse is taking place in the home. Those same studies show that children who witness animal abuse are at a greater risk of becoming animal abusers themselves.

Preventing animal cruelty is no easy task, but by understanding the signs of animal cruelty, knowing animal welfare laws, and advocating for the rights of animals, we can all make a difference.

Signs of animal abuse and neglect are:
• Lack of grooming, for example overgrown nails or matted fur
• Basic needs not met, such as lack of food, water, shelter, and vet care
• Bruises and scarring on skin or visible signs of poor health
• Being kept in unsanitary conditions or extreme temperatures
• Malnourished or dehydrated appearance where bones are visible through fur

Categories

• Animal Causes

Cause Classification: Animal


Animal Loss Due to Animal Abuse

Awareness Ribbon Color:

Purple and Black Ribbon for Animal Loss Due to Animal Abuse

What is Animal Loss Due to Animal Abuse?
Many people have different interpretations of what is considered "animal abuse". Identifying abuse or neglect can be harder than it seems. It is important to look at the entire situation to determine if an animal is being abused or neglected, and to ascertain whether the abuse is intentional and/or malicious. Many times what seems like neglect over a neighbor's fence may be misinterpreted, or may not fall within the legal definition of animal abuse. As long as the pet owner provides adequate food, water and shelter, the owner may not actually be violating any laws.

The legal definition of animal abuse or animal cruelty is what determines how law enforcement may respond to a reported incident. To help facilitate law enforcement's ability to prosecute animal abusers it is important to collect factual information when one suspects abuse or neglect, and to place a report with the law enforcement agency in your governing jurisdiction.

Categories

• Animal Causes

Cause Classification: Animal


Aniridia

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Aniridiais also known as:
• Irideremia

What is Aniridia?
Aniridia is a rare genetic vision disorder characterized by abnormal development of the eye's iris. The iris is the circular colored membrane in the middle of the eyeball. It is perforated in the center by an opening known as the pupil, which regulates the amount of light that enters the eye. Aniridia is characterized by partial or complete absence of the iris. Various forms of aniridia have been identified. Each can be distinguished by accompanying symptoms.

Categories

• Eye Diseases

Cause Classification: Medical


Aniridia Cerebellar Ataxia Mental Deficiency

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Aniridia Cerebellar Ataxia Mental Deficiency is also known as:
• Aniridia-Cerebellar Ataxia-Mental Retardation
• Aniridia, Partial-Cerebellar Ataxia-Mental Retardation
• Aniridia, Partial-Cerebellar Ataxia-Oligophrenia
• Gillespie Syndrome

What is Aniridia Cerebellar Ataxia Mental Deficiency?
Aniridia Cerebellar Ataxia and Mental Deficiency, also known as Gillespi Syndrome, is an extremely rare inherited disorder that is characterized by the absence, in whole or in part, of the colored portion of the eye, impaired coordination of voluntary movements due to underdevelopment of the brain's cerebellum, and mental retardation. The condition usually affects both eyes but a few cases have been reported in which only one eye is affected. Some individuals with this syndrome also exhibit a delay in the acquisition of skills requiring coordination of muscular and mental activity.

Categories

• Congenital and Genetic Diseases
• Eye Diseases
• Nervous System Diseases

Cause Classification: Medical


Ankylosing Spondylitis

Awareness Ribbon Color:

Blue Ribbon for Ankylosing Spondylitis

What is Ankylosing Spondylitis?
Ankylosing Spondylitis, or AS, is a form of arthritis that primarily affects the spine, although other joints can become involved. It causes inflammation of the spinal joints that can lead to severe, chronic pain and discomfort. In more advanced cases this inflammation can lead to ankylosis, new bone formation in the spine, causing sections of the spine to fuse in a fixed, immobile position.

AS can also cause inflammation, pain, and stiffness in other areas of the body such as the shoulders, hips, ribs, heels, and small joints of the hands and feet. Sometimes the eyes can become involved, and rarely the lungs and heart can be affected. The hallmark feature of ankylosing spondylitis is the involvement of the sacroiliac (SI) joints during the progression of the disease. The SI joints are located at the base of the spine, where the spine joins the pelvis.

Catagories

• Autoimmune Diseases
• Autoinflammatory Diseases
• Musculoskeletal Diseases

Cause Classification: Medical


Anodontia

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

Anodontia is also known as:
• Anodontia Vera

Subdivisions of Anodontia
• Complete Anodontia
• Partial Anodontia (Hypodontia)

What is Anodontia?
Anodontia is a genetic disorder commonly defined as the absence of all teeth, and is extremely rarely encountered in a pure form without any associated abnormalities. Rare but more common than complete anodontia are hypodontia and oligodontia. Hypodontia is genetic in origin and usually involves the absence of from 1 to 6 teeth. Oligodontia is genetic, as well, and is the term most commonly used to describe conditions in which more than six teeth are missing. These conditions may involve either the primary or permanent sets of teeth, but most cases involve the permanent teeth.

Categories

• Congenital and Genetic Diseases
• Mouth Diseases

Cause Classification: Medical


Anthrax

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Anthrax is also known as:
• Black Baine
• Malignant Edema
• Malignant Pustule
• Ragpicker Disease
• Siberian Plague
• Woolsorter's Disease

Subdivisions of Anthrax
• Cutaneous Anthrax
• Gastrointestinal Anthrax
• Inhalational Anthrax

What is Anthrax?
Anthrax is an acute infectious disease caused by the spore-forming bacterium Bacillus anthracis. It is usually a disease of wild and domestic animals, including cattle, sheep, and goats. However, human infection, while rare, does occur. Human infection usually results from contact with infected animals or their products. However, anthrax has become of interest because of the possibility that a nation or terrorist group might attempt to use it as a weapon of warfare or terrorism. There are three types of anthrax: cutaneous, gastrointestinal, and inhalational.

Categories

• Bacterial Infections

Cause Classification: Medical


Anti-GBM/Anti-TBM Nephritis

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

What is Anti-GBM/Anti-TBM Nephritis?
Anti-Glomerular Basement Membrane Disease (Anti-GBM Disease) is a disease that occurs as a result of injury to small blood vessels in the kidneys and/or lungs. In anti-GBM disease, autoantibodies are targeted to the basement membrane, which is part of the wall of the capillary blood vessels in the kidneys and lungs. The name anti-GBM disease reflects the fact that this disease is caused by autoantibodies targeting and causing damage to the glomerular basement membrane.

Categories

• Kidney and Urinary Diseases

Cause Classification: Medical


Anti-N-Methyl-D-Aspartate Receptor Encephalitis

Awareness Ribbon Color:

Purple Ribbon for Anti-N-Methyl-D Asparate Receptor Encephalitis

What is Anti-N-Methyl-D-Aspartate Receptor Encephalitis?
The major role of the immune system is to recognize and get rid of infection. But sometimes some components of the immune system, called antibodies, may instead react with proteins in the own body causing an autoimmune disease. When this reaction is against proteins in the brain it is called autoimmune encephalitis. If the brain protein is the N-Methyl-D-Aspartate (NMDA) Receptor, the condition is termed NMDA-receptor antibody encephalitis, or anti-NMDAR encephalitis. Essentially the immune system is attacking the brain.

Categories

• Autoimmune Diseases
• Autoinflammatory Diseases
• Immune System Diseases
• Nervous System Diseases

Cause Classification: Medical


Anti-Neutrophil Cytoplasmic Anti-Body Associated Vasculitis

Awareness Ribbon Color:

Red Ribbon for Anti-Neutrophil Cytoplasmic Anti-Body Associated Vasculitis

What is Anti-Neutrophil Cytoplasmic Anti-Body Associated Vasculitis
Antineutrophil Cytoplasmic antibody (ANCA)-Associated Vasculitis (AAV) is a group of diseases, characterized by destruction and inflammation of small vessels. The clinical signs vary and affect several organs, such as the kidney, stomach, intestine, and lung. Skin lesions, such as purpura and urticaria, result when blood from small vessels leaks under the skin. AAV occurs when neutrophils attack small and medium vessels of the body.

Categories

• Blood Diseases

Cause Classification: Medical


Antiphospholipid Syndrome (APS)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Antiphospholipid Syndrome (APS) is also known as:
• Antiphospholipid Antibody Syndrome
• APS
• APLS
• Hughes Syndrome
• Lupus Anticoagulant Syndrome

Subdivisions of Antiphospholipid Syndrome (APS)
• Primary Antiphospholipid Syndrome
• Secondary Antiphospholipid Syndrome
• Catastrophic Antiphospholipid Syndrome

What is Antiphospholipid Syndrome (APS)?
Antiphospholipid Syndrome (APS) is a rare autoimmune disorder characterized by recurring blood clots. Blood clots can form in any blood vessel of the body. The specific symptoms and severity of APS vary greatly from person to person depending upon the exact location of a blood clot and the organ system affected. APS may occur as an isolated disorder (Primary Antiphospholipid Syndrome) or may occur along with another autoimmune disorder such as systemic lupus erythematosus (Secondary Antiphospholipid Syndrome).

Categories

• Autoimmune Diseases
• Autoinflammatory Diseases
• Blood Diseases

Cause Classification: Medical


Antisynthetase Syndrome

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Antisynthetase Syndrome is also known as:
• Anti-Synthetase Syndrome
• AS Syndrome
• ASSD

What is Antisynthetase Syndrome?
Antisynthetase Syndrome is a rare, chronic disorder that can affect multiple systems of the body. The disorder is immune-mediated, which means there is inflammation resulting from abnormal functioning of the immune system and the presence of specific autoantibodies that target a specific protein in the body. Common symptoms include inflammation of the muscles, inflammation of several joints, interstitial lung disease, thickening and cracking of the skin of the hands, and a condition called Raynaud phenomenon. Affected individuals also have nonspecific symptoms like fatigue, unexplained fevers, and unintended weight loss. Antisynthetase syndrome sometimes occurs along with other conditions such as uncommon inflammatory muscle diseases like dermatomyositis or polymyositis.

Categories

• Autoimmune Diseases
• Autoinflammatory Diseases
• Immune System Diseases

Cause Classification: Medical


Antithrombin Deficiency

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Antithrombin Deficiency is also known as:
• AT 3
• AT III Deficiency
• Thrombophilia, Hereditary, Due to AT III

Subdivisions of Antithrombin Deficiency
• Antithrombin III Deficiency, Classical (Type I)
• AT III Variant IlA
• AT III Variant IlB

What is Antithrombin Deficiency?
Antithrombin Deficiency is a blood disorder characterized by the tendency to form clots in the veins. An inherited tendency to thrombosis is known as thrombophilia. Antithrombin is a substance in the blood that limits the blood's ability to clot and the primary inhibitor of thrombin. In people with congenital antithrombin deficiency, there is a reduced amount of this substance in the blood.

Categories

• Blood Diseases
• Congenital and Genetic Diseases
• Musculoskeletal Diseases

Cause Classification: Medical


Antley Bixler Syndrome

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Antley Bixler Syndrome is also known as:
• ABS
• Craniosynostosis, Choanal Atresia, Radial Humeral Synostosis
• Multisynostotic Osteodysgenesis with Long Bone Fractures
• Trapezoidocephaly-Multiple Synostosis Syndrome

Subdivisions of Antley Bixler Syndrome
• Multisynostotic Osteodysgenesis

What is Antley Bixler Syndrome?
Antley-Bixler Syndrome is a rare genetic disorder that is primarily characterized by distinctive malformations of the head and facial area and additional skeletal abnormalities. Many affected infants and children may have a prominent forehead, underdeveloped midfacial regions, protruding eyes, and other craniofacial abnormalities.

Categories

• Congenital and Genetic Diseases
• Musculoskeletal Diseases

Cause Classification: Medical


Apert Syndrome

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

Apert Syndrome is also known as:
• Acrocephalosyndactyly, Type I
• ACS1
• ACS I
• Syndactylic Oxycephaly

What is Apert Syndrome?
Apert Syndrome is a rare genetic disorder characterized by distinctive malformations of the head that lead to distinctive facial features. In addition, the hands and/or feet may be webbed and in some cases, mental retardation may also be present. Among babies born with Apert syndrome, the fibrous joints between bones of the skull close prematurely. The pressure of continued brain growth distorts various bones of the skull and the face.

Categories

• Congenital and Genetic Diseases
• Ear, Nose, and Throat Diseases
• Eye Diseases
• Mouth Diseases
• Musculoskeletal Diseases

Cause Classification: Medical


Aplasia Cutis Congenita

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Aplasia Cutis Congenita is also known as:
• ACC
• Congenital Defect of the Skull and Scalp
• Congenital Ulcer of the Newborn
• Scalp Defect Congenital

What is Aplasia Cutis Congenita?
Aplasia Cutis Congenita is a rare disorder with a complicated pattern of inheritance. Babies are born with the absence of certain layer(s) of skin, most often on the scalp, but also on the trunk, and/or arms and legs. The affected area is typically covered with a thin, transparent membrane. The skull and/or underlying areas may be visible and be abnormally developed. Aplasia Cutis Congenita may be the primary disorder or it may occur in association with other underlying disorders.

Categories

• Congenital and Genetic Diseases
• Skin Diseases

Cause Classification: Medical


Apnea, Infantile

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Apnea, Infantile is also known as:
• Infantile Sleep Apnea

Subdivisions of Apnea, Infantile
• Central Apnea
• Diaphragmatic Apnea
• Mixed Apnea
• Obstructive Apnea
• Upper Airway Apnea

What is Apnea, Infantile?
Apnea is a term used to describe the temporary absence of spontaneous breathing. Infantile apnea occurs in children under the age of one year. Apnea may occur because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms of infantile apnea include the stoppage of breathing during sleep, an abnormal bluish discoloration to the skin and sometimes an unusually slow heartbeat. Infantile Apnea may be related to some cases of sudden infant death syndrome. Episodes of apnea may decrease with age.

Categories

• Rare Respiratory Disorders

Cause Classification: Medical


Appendiceal Cancer and Tumors

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Appendiceal Cancer and Tumors is also known as:
• Low Grade Mucinous Neoplasm of the Appendix (LAMN)
• High Grade Mucinous Neoplasms of the Appendix (HAMN)
• Mucinous Adenocarcinoma of the Appendix
• Adenocarcinoma of the Appendix
• Signet Ring Cell Cancer of the Appendix
• Goblet Cell Carcinoid
• Cystadenocarcinoma
• Nonmucinous Adenocarcinoma
• Colonic Type Adenocarcinoma

Subdivisions of Appendiceal Cancer and Tumors
• Goblet Cell Carcinoid
• Low-Grade Mucinous Neoplasm of the Appendix (LAMN)
• High-Grade Mucinous Neoplasm of the Appendix (HAMN)
• Adenocarcinoma: Well-Differentiated
• Adenocarcinoma: Moderately-Differentiated
• Adenocarcinoma: Poorly-Differentiated
• Adenocarcinoma: Signet Ring Cell (SRC)

What is Appendiceal Cancer and Tumors?
Cancers and tumors (neoplasms) of the appendix are extremely rare. The average age of onset is between 50 and 55 years, and they affect men and women equally. In women, they often spread to the ovaries and can be easily confused with ovarian cancer. After starting in the appendix, appendiceal tumors and cancers frequently spread inside the abdominal cavity. Depending on the type of tumor or cancer, this can lead to either the build-up of mucinous fluid in the abdomen known as pseudomyxoma peritonei or a condition referred to as peritoneal carcinomatosis.

Categories

• Digestive Diseases
• Rare Cancers

Cause Classification: Medical


Appendix Cancer

Awareness Ribbon Color:

Amber Ribbon for Appendix Cancer

What is Appendix Cancer?
The largest-ever study of DNA changes in cancer of the appendix shows that this rare cancer is distinct from colorectal cancer and other cancers of the gastrointestinal (GI) system. Gastrointestinal (GI) carcinoid tumors are slow-growing tumors that form in the GI tract, primarily in the rectum, small intestine, or appendix.

Categories

• Digestive Diseases
• Rare Cancers

Cause Classification: Medical
Cross Reference: Cancer Causes And Their Associated Cancer Ribbon Colors


Apraxia

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Apraxia is also known as:
• Apraxia, Buccofacial
• Apraxia, Classic
• Apraxia, Constructional
• Apraxia, Ideational
• Apraxia, Ideokinetic
• Apraxia, Ideomotor
• Apraxia, Motor
• Apraxia, Oculomotor

What is Apraxia?
Apraxia is a neurological disorder characterized by the inability to perform learned movements on command, even though the command is understood and there is a willingness to perform the movement. Both the desire and the capacity to move are present but the person simply cannot execute the act.

Apraxia comes in several different forms:
Limb-kinetic apraxia
Ideomotor apraxia
Conceptual apraxia
Ideational apraxia
Buccofacial apraxia
Constructional apraxia
Oculomotor apraxia

Categories

• Nervous System Diseases

Cause Classification: Medical


Arachnoid Cysts

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Arachnoid Cysts is also known as:
• Cysts, Arachnoid

Subdivisions of Arachnoid Cysts
• Intracranial Arachnoid Cysts
• Spinal Arachnoid Cysts

What are Arachnoid Cysts?
Arachnoid Cysts are fluid-filled sacs that occur on the arachnoid membrane that covers the brain and the spinal cord. There are three membranes covering these parts of the central nervous system: the dura mater, arachnoid, and pia mater. Arachnoid cysts appear on the arachnoid membrane, and they may also expand into the space between the pia mater and arachnoid membranes. In many cases, arachnoid cysts do not cause symptoms. In cases in which symptoms occur, headaches, seizures and abnormal accumulation of excessive cerebrospinal fluid in the brain are common.

Categories

• Congenital and Genetic Diseases
• Endocrine Diseases
• Nervous System Diseases

Cause Classification: Medical


Arachnoiditis

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Arachnoiditis is also known as:
• Arachnitis
• Spinal Arachnoiditis

Subdivisions of Arachnoiditis
• Adhesive Arachnoiditis
• Aerebral Arachnoiditis
• Cerebral Arachnoiditis
• Hereditary Arachnoiditis
• Neoplastic Arachnoiditis
• Optochiasmatic Arachnoiditis
• Postmyelographic Arachnoiditis
• Rhinosinusogenic Cerebral Arachnoiditis

What is Arachnoiditis?
Arachnoiditis is a disease characterized by an acute inflammatory stage that occurs in the dura and the arachnoid, two of the three membranes that cover and protect the brain, the spinal cord and the nerve roots. The arachnoid contains the cerebrospinal fluid which circulates from the brain to the sacral area, about every two hours; it filters any invasion and usually responds first by inflammation and follows with a chronic stage life-lasting phase characterized by scarring and fibrosis. As a result, abnormal adhesion of nerve roots to the dural sac or to each other occurs in a variety of configurations that alter significantly the function of the roots and the spinal cord.

Categories

• Nervous System Diseases

Cause Classification: Medical


Arginase Deficiency

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Arginase Deficiency is also known as:
• Hyperargininemia

What is Arginase Deficiency?
Arginase Deficiency is a rare inherited disorder characterized by a complete or partial lack of the enzyme arginase. Arginase is one of six enzymes that plays a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle. The lack of the arginase enzyme results in excessive accumulation of nitrogen, in the form of ammonia, in the blood and arginine in the blood and cerebrospinal fluid. Untreated children may exhibit seizures, spasticity, short stature and intellectual disability. Most affected infants are now identified at birth through newborn screening.

Arginase Deficiency

• Congenital and Genetic Diseases
• Metabolic Disorders
• RDCRN

Cause Classification: Medical


Argininosuccinic Aciduria

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Argininosuccinic Aciduria is also known as:
• Arginino Succinase Deficiency
• Argininosuccinate Lyase Deficiency
• Argininosuccinate Acid Lyase Deficiency
• ASA Deficiency
• ASL Deficiency

What is Argininosuccinic Aciduria?
Argininosuccinic Aciduria is a rare genetic disorder characterized by deficiency or lack of the enzyme argininosuccinate lyase (ASL). This enzyme is one of six enzymes that plays a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle. The lack of this argininosuccinate lyase results in excessive accumulation of nitrogen, in the form of ammonia, in the blood. Ammonia is a neurotoxin, which means that it damages or inhibits the function of neurons, the cells of the central nervous system. Excess ammonia travels to the central nervous system through the blood.

Categories

• Congenital and Genetic Diseases
• Metabolic Disorders
• RDCRN

Cause Classification: Medical


Arterial Tortuosity Syndrome (ATS)

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

Arterial Tortuosity Syndrome (ATS) is also known as:
• ATS

What is Arterial Tortuosity Syndrome (ATS)?
Arterial Tortuosity Syndrome (ATS) is an extremely rare genetic disorder characterized by lengthening and twisting or distortion of arteries throughout the body. Affected arteries are prone to developing balloon-like bulges on the wall of the artery, tearing, or narrowing.

Categories

• Blood Diseases
• Congenital and Genetic Diseases
• Digestive Diseases
• Heart Diseases
• Lung Diseases
• Skin Diseases

Cause Classification: Medical


Arteriovenous Malformation (AVM)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Arteriovenous Malformation (AVM) is also known as:
• AVM

Subdivisions of Arteriovenous Malformation (ATM)
• Arteriovenous Malformation of the Brain
• Arteriovenous Malformation of the Spine

What is Arteriovenous Malformation (ATM)?
Arteriovenous Malformation (AVM) is a vascular lesion that is a tangle of vessels of varying sizes in which there is one or more direct connections between the arterial and venous circulations.

Categories

• Blood Diseases
• Congenital and Genetic Diseases
• Digestive Diseases
• Eye Diseases
• Nervous System Diseases
• RDCRN
• Skin Diseases

Cause Classification: Medical


Arteritis, Takayasu

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Arteritis, Takayasu is also known as:
• Aorta Arch Syndrome
• Brachiocephalic Ischemia
• Idiopathic Arteritis of Takayasu
• Martorell Syndrome
• Occlusive Thromboaortopathy
• Pulseless Disease
• Reverse Coarction
• Takayasu Disease
• Young Female Arteritis

What is Arteritis, Takayasu?
Takayasu Arteritis is a rare disorder characterized by the progressive inflammation of one or more of the larger arteries leading from the heart. When this disorder causes progressive inflammation of many arteries, it is known as polyarteritis. One of the consequences of polyarteritis is the reduction of blood flow to any of several organs and/or arms and legs. Arteries in the head and arms may be affected, and this can result in the loss of the major pulse points in the body. Some people with Takayasu Arteritis have irregular narrowing of portions of the large arteries and abnormal backward flow of blood from the aorta into the left ventricle of the heart. Other individuals may have symptoms of ballooning and weakening of the wall of a major vessel.

Categories

• Blood Diseases
• Kidney and Urinary Diseases
• RDCRN

Cause Classification: Medical


Arthritis, Infectious

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Arthritis, Infectious is also known as:
• Bacterial Arthritis
• Purulent Arthritis
• Pyarthrosis
• Pyogenic Arthritis
• Septic Arthritis
• Suppurative Arthritis

What is Arthritis, Infectious?
Infectious Arthritis is an inflammation of one or more joints that occurs as a result of infection by bacteria, viruses or, less frequently, fungi or parasites. Most often, the infection begins at a location in the body and travels via the bloodstream to the joint. Less commonly, the infection starts in the joint in the course of a surgical procedure, injection or other action.

Catagories

• Bacterial Infections
• Musculoskeletal Diseases

Cause Classification: Medical


Arthritis, Juvenile Rheumatoid (JRA)

Awareness Ribbon Color:

Purple and Blue Ribbon for Arthritis, Juvenile Rheumatoid

Arthritis, Juvenile Rheumatoid (JRA) is also known as:
• JRA
• Juvenile Chronic Arthritis

Subdivisions of Arthritis, Juvenile Rheumatoid (JRA)
• Pauciarticular-Onset Disease (Oligoarthritis)
• Polyarticular-Onset Disease
• Systemic-Onset Disease (Still's Disease)

What is Arthritis, Juvenile Rheumatoid?
Juvenile Rheumatoid Arthritis (JRA) is a rheumatic disease characterized by chronic inflammation (arthritis) of one or more joints in a child age 16 years or younger. Associated symptoms typically include swelling, abnormal warmth, tenderness or pain, and/or stiffness of affected joints that tends to be worse in the mornings. In severe cases, destructive changes may eventually result in limited mobility and possible deformity of affected joints.

Catagories

• Autoimmune Diseases
• Autoinflammatory Diseases
• Musculoskeletal Diseases

Cause Classification: Medical


Arthritis, Psoriatic

Awareness Ribbon Color:

Lavender and Orange Ribbon for Psoriatic Arthritis

What is Arthritis, Psoriatic?
Psoriatic Arthritis is a rheumatoid-like arthritic condition characterized by pain and swelling of the joints that occurs in association with gray discoloration or scaly plaques of the skin. Abnormalities of the nails may also be present. In many cases, skin symptoms precede the development of arthritis by several years.

Catagories

• Autoimmune Diseases
• Autoinflammatory Diseases
• Musculoskeletal Diseases

Cause Classification: Medical


Arthrogryposis Multiplex Congenita (AMC)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Arthrogryposis Multiplex Congenita (AMC) is also known as:
• AMC
• Arthrogryposis

Subdivisions of Arthrogryposis Multiplex Congenita (AMC)
• Amyoplasia
• Distal Arthrogryposis
• Ptergium Syndrome

What is Arthrogryposis Multiplex Congenita (AMC)?
Arthrogryposis is a general or descriptive term for the development of nonprogressive contractures affecting one or more areas of the body prior to birth. A contracture is a condition in which a joint becomes permanently fixed in a bent or straightened position, completely or partially restricting the movement of the affected joint. When congenital contractures occur only in one body area, it is not referred to as arthrogryposis but rather an isolated congenital contracture. The most common form of an isolated congenital contracture is clubfoot. When arthrogryposis affects two or more different areas of the body, it may be referred to as Arthrogryposis Multiplex Congenita (AMC). The most common form of AMC is amyoplasia. Arthrogryposis and Arthrogryposis Multiplex Congenita are sometimes used interchangeably.

Categories

• Musculoskeletal Diseases

Cause Classification: Medical


Asherman’s Syndrome

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Asherman’s Syndrome is also known as:
• Intrauterine Synechiae
• Uterine Synechiae

What is Asherman’s Syndrome?
Asherman's Syndrome is an uncommon, acquired, gynecological disorder characterized by changes in the menstrual cycle. Patients experience reduced menstrual flow, increased cramping and abdominal pain, eventual cessation of menstrual cycles, and, in many instances, infertility. Most often these symptoms are the result of severe inflammation of the lining of the uterus that is caused by the development of bands of scar tissue that join parts of the walls of the uterus to one another, thus reducing the volume of the uterine cavity.

Categories

• Female Reproductive Diseases

Cause Classification: Medical


Asherson’s Syndrome

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Asherson’s Syndrome is also known as:
• Catastrophic Antiphospholipid Syndrome

What is Asherson’s Syndrome?
Asherson's Syndrome is an extremely rare autoimmune disorder characterized by the development of rapidly progressive blood clots affecting multiple organ systems of the body. Conditions such as infections, immunizations, or wounds caused due to physical trauma and failure in the anticoagulation mechanism of the body usually act as "triggers". The syndrome is particularly common among individuals with antiphospholipid syndrome who experience a cessation of the anticoagulation mechanism related to recurrent bleeding in the body. It is usually seen in individuals who have previously suffered from a simple/classic episode of antiphospholipid syndrome.

Categories

• Blood Diseases

Cause Classification: Medical


Aspartylglycosaminuria

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

Aspartylglycosaminuria is also known as:
• AGA
• AGU
• Aspartylglucosaminidase Deficiency
• Glycosylasparaginase Deficiency

What is Aspartylglycosaminuria?
Aspartylglycosaminuria is a very rare genetic disorder that is concentrated among persons of Finnish decent, but is also found, even more rarely, in other populations around the world. It is an inborn error of metabolism, and one of the lysosomal storage diseases. It becomes apparent after the infant is a few months old. Major symptoms may include coarse facial features, spine and eye deformities, behavior problems and mental retardation.

Categories

• Congenital and Genetic Diseases
• Metabolic Disorders
• Musculoskeletal Diseases
• Nervous System Diseases

Cause Classification: Medical


Aspergillosis

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Aspergillosis is also known as:

• Allergic Aspergillus Sinusitis
• Allergic Bronchopulmonary Aspergillosis
• Chronic Pulmonary Aspergillosis
• Cutaneous (Skin) Aspergillosis
• Invasive Aspergillosis

What is Aspergillosis?
Aspergillosis is a fungal infection caused by Aspergillus, a species of mold that is found all over the world. More than 180 different types of Aspergillus have been identified. Most of these molds are harmless. However, some types can cause a variety of diseases in humans ranging from simple allergic reactions to life-threatening invasive disease. Collectively, this group of diseases is referred to as aspergillosis and is broadly broken down into three categories - allergic, chronic and invasive.

Categories

• Fungal Infections

Cause Classification: Medical


Asphyxiating Thoracic Dystrophy (ATD)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Asphyxiating Thoracic Dystrophy (ATD) is also known as:
• Asphyxiating Thoracic Chondrodystrophy
• Asphyxiating Thoracic Dysplasia
• ATD • Asphyxiating Thoracic Chondrodystrophy
• Infantile Thoracic Dystrophy
• Jeune Syndrome
• Jeune Thoracic Dystrophy
• Thoracic-Pelvic-Phalangeal Dystrophy

What is Asphyxiating Thoracic Dystrophy (ATD)?
Asphyxiating Thoracic Dystrophy (ATD) is a very rare form of skeletal dysplasia that primarily affects development of the bone structure of the chest resulting in a very narrow and bell-shaped chest. Other major characteristics include kidney problems, shortened bones of the arms and legs, extra fingers and toes, and a shortened stature.

Categories

• Congenital and Genetic Diseases
• Kidney and Urinary Diseases
• Lung Diseases
• Musculoskeletal Diseases

Cause Classification: Medical


Astrocytomas, Adult (Brain Cancer)

Awareness Ribbon Color:

Gray Ribbon for Astrocytomas, Adult (Brain Cancer)
Zebra Ribbon for Rare Diseases

Astrocytoma is also known as:
• Grade I Astrocytoma
• Grade II Astrocytoma
• Grade III Astrocytoma
• Grade IV Astrocytoma

What is an Astrocytoma?
An astrocytoma is a tumor that arises from the star-shaped cells (astrocytes) that form the supportive tissue of the brain. Other supportive cells of the brain include oligodendrocytes and ependymal cells. Collectively, these cells are known as glial cells and the tissue they form is known as glial tissue. Tumors that arise from the glial tissue, including astrocytomas, are collectively referred to as gliomas.

Grade I astrocytoma is usually a non-infiltrating tumor. The most common type of grade I astrocytoma is pilocytic astrocytoma which is also known as juvenile pilocytic astrocytoma or JPA. This tumor grows slowly but can become very large. Pilocytic astrocytoma occurs most often in the cerebellum, cerebrum, optic nerve pathway and brainstem. This tumor occurs most often in children and teens and accounts for 2% of all brain tumors.

Grade II astrocytoma is also called low-grade astrocytoma or diffuse astrocytoma and is usually an infiltrating tumor. This tumor grows relatively slowly and usually does not have well-defined borders. It occurs most often in adults between the ages of 20 and 40.

Grade III astrocytoma is also called anaplastic (malignant) astrocytoma because this tumor grows more quickly than a grade II astrocytoma. Anaplastic astrocytoma occurs most often in adults between the ages of 30 and 50, and accounts for 4% of all brain tumors.

Grade IV astrocytoma is also called glioblastoma or GBM and is the most aggressive type of nervous system tumor. It is also referred to as glioblastoma multiforme because of its wide variety of appearances under the microscope. Rarely, non-glial tissue elements can exist in a glioblastoma. The most common variant of GBM showing these additional tissue elements is called a mixed glioblastoma-sarcoma, or gliosarcoma. GBM occurs most often in adults between the ages of 50 and 80, is more common in men, and accounts for 23% of all primary brain tumors.

Categories

• Rare Cancers

Cause Classification: Medical


Astrocytomas, Childhood (Brain Cancer)

Awareness Ribbon Color:

Gold Ribbon for Astrocytomas, Childhood (Brain Cancer)
Gray Ribbon for Astrocytomas, Childhood (Brain Cancer)

What are Astrocytomas, Childhood?
Childhood Astrocytomas are a disease in which benign (noncancer) or malignant (cancer) cells form in the tissues of the brain. Astrocytomas are tumors that start in star-shaped brain cells called astrocytes. An astrocyte is a type of glial cell. Glial cells hold nerve cells in place, bring food and oxygen to them, and help protect them from disease, such as infection. Gliomas are tumors that form from glial cells. An astrocytoma is a type of glioma. Astrocytoma is the most common type of glioma diagnosed in children. It can form anywhere in the central nervous system.

Categories

• Rare Cancers

Cause Classification: Medical
Cross Reference: Cancer Causes And Their Associated Cancer Ribbon Colors


Ataxia Telangiectasia (AT)

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

Ataxia Telangiectasia (AT) is also known as:
• AT
• Cerebello-Oculocutaneous Telangiectasia
• Immunodeficiency with Ataxia Telangiectasia
• Louis-Bar Syndrome

What is Ataxia Telangiectasia (AT)?
Ataxia Telangiectasia (AT) is a complex genetic neurodegenerative disorder that may become apparent during infancy or early childhood. The disorder is characterized by progressively impaired coordination of voluntary movements (ataxia), the development of reddish lesions of the skin and mucous membranes due to permanent widening of groups of blood vessels (telangiectasia), and impaired functioning of the immune system resulting in increased susceptibility to upper and lower respiratory infections. Individuals with AT also have an increased risk of developing certain malignancies, particularly of the lymphatic system, the blood-forming organs, and the brain.

Categories

• Congenital and Genetic Diseases
• Endocrine Diseases
• Eye Diseases
• Female Reproductive Diseases
• Immune System Diseases
• Nervous System Diseases
• Rare Cancers
• Skin Diseases

Cause Classification: Medical


Ataxia with Vitamin E Deficiency (AVED)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Ataxia with Vitamin E Deficiency (AVED) is also known as:
• AVED
• Familial Isolated Vitamin E Deficiency
• Isolated Vitamin E Deficiency

What is Ataxia with Vitamin E Deficiency (AVED)?
Ataxia with Vitamin E Deficiency (AVED) is a rare inherited neurodegenerative disorder characterized by impaired ability to coordinate voluntary movements and disease of the peripheral nervous system. AVED is a progressive disorder that can affect many different systems of the body. AVED is extremely similar to a more common disorder known as Friedreich's Ataxia.

Categories

• Congenital and Genetic Diseases
• Eye Diseases
• Metabolic Disorders
• Nervous System Diseases

Cause Classification: Medical


ATR-16 Syndrome

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

ATR-16 Syndrome is also known as:
• Alpha-Thalassemia-Intellectual Disability Syndrome, Chromosome 16-Related
• Alpha-Thalassemia-Intellectual Disability Syndrome, Deletion Type

What is ATR-16 Syndrome?
ATR-16 Syndrome is an extremely rare genetic disorder in which affected individuals have a large loss of genetic material on chromosome 16 in which several adjacent genes are lost. Symptoms include intellectual disability, clubfoot, head circumference that is smaller than would be expected based upon an infant’s age and gender, and alpha thalassemia, a blood disorder characterized in this disorder by reduced levels of functional hemoglobin.

Categories

• Chromosome Disorders

Cause Classification: Medical


Atransferrinemia

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

Atransferrinemia is also known as:
• Congenital Atransferrinemia
• Hereditary Atransferrinemia
• Hypotransferrinemia

What is Atransferrinemia?
Atransferrinemia is an extremely rare genetic disorder characterized by low levels of healthy, functional red cells in the blood and by the accumulation of excess iron in the body. Symptoms may vary based upon the severity of anemia and upon the extent of iron accumulation in the body and the specific organs affected.

Categories

• Blood Diseases
• Congenital and Genetic Diseases
• Metabolic Disorders

Cause Classification: Medical


Atrial Septal Defects (ASD)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Atrial Septal Defects (ASD) is also known as:
• Ostium Primum Defect (Endocardial Cushion Defects Included)
• Ostium Secundum Defect
• Sinus Venosus

What are Atrial Septal Defects (ASD)?
Atrial Septal Defects (ASDs) are a group of rare disorders of the heart that are present at birth and involve a hole in the wall that separates the two upper-chambers of the heart. Several forms of atrial septal defects are recognized. They are classified according to their location in the septum. The term primum refers to defects that are in the lower part of the septum. The term secundum refers to defects that are located in the middle of the septum, and the term sinus venosus refers to defects in the upper part of the septum.

Categories

• Congenital and Genetic Diseases

Cause Classification: Medical


Atrioventricular Septal Defect (ASVD)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Atrioventricular Septal Defect (ASVD) is also known as:
• Atrioventricular Canal Defects
• AVSD
• Common Atrioventricular Canal (CAVC) Defect
• Endocardial Cushion Defects

Subdivisions of Atrioventricular Septal Defect (ASVD)
• Complete Atrioventricular Septal Defect
• Incomplete Atrioventricular Septal Defect
• Partial Atrioventricular Septal Defect
• Transitional Atrioventricular Septal Defect

What is Atrioventricular Septal Defect (ASVD)?
Atrioventricular Septal Defect (ASVD) is a general term for a group of rare heart defects that are present at birth. Infants with ASVDs have improperly developed atrial and ventricular septa and adjoining valves.

Categories

• Congenital and Genetic Diseases
• Heart Diseases

Cause Classification: Medical


Atypical Hemolytic Uremic Syndrome (aHUS)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Atypical Hemolytic Uremic Syndrome (aHUS) is also known as:
• aHUS
• Familial Hemolytic-Uremic Syndrome
• Hereditary Hemolytic-Uremic Syndrome

What is Atypical Hemolytic Uremic Syndrome (aHUS)?
Atypical Hemolytic Uremic Syndrome (aHUS) is an extremely rare disease characterized by low levels of circulating red blood cells due to their destruction, low platelet count due to their consumption and inability of the kidneys to process waste products from the blood and excrete them into the urine, a condition known as uremia. It is a distinctly different illness from the more common disorder known as typical hemolytic uremic syndrome, which is caused by E.coli-producing Shiga toxins and is generally foodborne.

Categories

• Blood Diseases

Cause Classification: Medical


Atypical Mycobacteriosis, Familial

Awareness Ribbon Color:

Ribbon for Atypical Mycrobacteriosis, Familial

What is Atypical Mycobacteriosis, Familial?
Atypical Mycobacteria are common in the environment and can be found in water (including tap water), soil, food, and on animals. Occasionally atypical mycobacteria cause disease in humans.

Categories

• Bacterial Infections

Cause Classification: Medical


Atypical Teratoid/Rhabdoid Tumor, Adult, Central Nervous System (Brain) Cancer

Awareness Ribbon Color:

Gray Ribbon for Atypical Teratoid/Rhabdoid Tumor, Adult, Central Nervous System (Brain) Cancer

What is Atypical Teratoid/Rhabdoid Tumor, Adult, Central Nervous System (Brain) Cancer?
Central Nervous System Atypical Teratoid/Rhabdoid Tumor is a disease in which malignant (cancer) cells form in the tissues of the brain. Central nervous (CNS) atypical teratoid/rhabdoid (AT/RT) is a very rare, fast-growing tumor of the brain and spinal cord. It is predominantly a childhood tumor and has rarely been reported in adults.

Categories

• Nervous System Diseases
• Rare Cancers

Cause Classification: Medical
Cross Reference: Cancer Causes And Their Associated Cancer Ribbon Colors


Atypical Teratoid/Rhabdoid Tumor, Childhood, Central Nervous System (Brain) Cancer

Awareness Ribbon Color:

Gold Ribbon for Atypical Teratoid/Rhabdoid Tumor, Childhood, Central Nervous System (Brain) Cancer
Gray Ribbon for Atypical Teratoid/Rhabdoid Tumor, Childhood, Central Nervous System (Brain) Cancer

What is Atypical Teratoid/Rhabdoid Tumor, Childhood, Central Nervous System (Brain) Cancer?
Central Nervous System Atypical Teratoid/Rhabdoid Tumor is a disease in which malignant (cancer) cells form in the tissues of the brain. Central nervous (CNS) atypical teratoid/rhabdoid (AT/RT) is a very rare, fast-growing tumor of the brain and spinal cord. It usually occurs in children aged three years and younger, although it can occur in older children and adults. About half of these tumors form in the cerebellum or brain stem. The cerebellum is the part of the brain that controls movement, balance, and posture. AT/RT may also be found in other parts of the central nervous system (brain and spinal cord).

Categories

• Nervous System Diseases
• Rare Cancers

Cause Classification: Medical
Cross Reference: Cancer Causes And Their Associated Cancer Ribbon Colors


Autoimmune Angioedema (AAE)

Awareness Ribbon Color:

Zebra and Blue Ribbon for Autoimmune Angioedema (AAE)

What is Autoimmune Angioedema (AAE)?
Acquired Angioedema (AAE) is a rare disorder that causes recurrent episodes of swelling (edema) of the face or body, lasting several days. There are two forms of AAE. Type 1 is associated with various other diseases including lymphoproliferative disorders, and autoimmune diseases that may not become apparent until years after the angioedema begins. Type 2 is associated with an autoimmune abnormality in which a person has autoantibodies against a protein in the blood called C1-INH.

Categories

• Autoimmune Diseases
• Autoflammatory Diseases

Cause Classification: Medical


Autoimmune Blistering Diseases

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Zebra Ribbon for Rare Diseases

Subdivisions of Autoimmune Blistering Diseases
• Epidermolysis Bullosa Acquista
• IgA-Mediated Bullous Dermatoses
• Pemphigoid
• Pemphigus

What are Autoimmune Blistering Diseases?
Autoimmune Blistering Diseases are a group of disorders in which the body mistakenly attacks healthy tissue, causing blistering lesions that primarily affect the skin and mucous and membranes. In autoimmune blistering diseases, antibodies mistakenly attack proteins that are essential for the layers of skin to stick together. The specific symptoms and severity of blistering diseases vary from one person to another, even among individuals with the same disorder. In some cases, blistering lesions can cover a significant portion of the skin.

Categories

• Autoimmune Diseases
• Autoinflammatory Diseases
• Skin Diseases

Cause Classification: Medical


Autoimmune Dysautonomia (AAG)

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Blue Ribbon for Autoimmune Dysautonomia

Autoimmune Dysautonomia (AAG) is also known as:
• Acute Pandysautonomia
• Autoimmune Autonomic Neuropathy
• Idiopathic Subacute Autonomic Neuropathy

What is Autoimmune Dysautonomia (AAG)?
Autoimmune Autonomic Ganglionopathy (AAG) is a very rare form of dysautonomia in which the body’s own immune system damages a receptor in the autonomic ganglia. It is often associated with high titers of ganglionic acetylcholine receptor antibody (g-AChR antibody).

Categories

• Autoimmune Diseases
• Autoinflammatory Diseases
• Congenital and Genetic Diseases
• Nervous System Diseases
• Rare Diseases

Cause Classification: Medical


Autoimmune Encephalomyelitis

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Zebra and Red Ribbon for Autoimmune Encephalomyelitis

What is Autoimmune Encephalomyelitis?
Autoimmune Encephalitis refers to a group of conditions that occur when the body's immune system mistakenly attacks healthy brain cells, leading to inflammation of the brain. People with Autoimmune Encephalitis may have various neurologic and/or psychiatric symptoms.

Categories

• Autoimmune Diseases
• Autoinflammatory Diseases
• Nervous System Diseases

Cause Classification: Medical


Autoimmune Enteropathy (AIE)

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Purple Ribbon for Autoimmune Enteropathy

What is Autoimmune Enteropathy (AID)
Autoimmune Enteropathy (AIE) is a rare disease characterized by intractable diarrhea, villous atrophy of the small intestine, the presence of autoantibodies, and usually the need for immunosuppressive treatment.

Categories

• Autoimmune Diseases
• Autoinflammatory Diseases
• Digestive Diseases

Cause Classification: Medical


Autoimmune Gastrointestinal Dysmotility (AGID)

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Zebra Ribbon for Rare Diseases

What is Autoimmune Gastrointestinal Dysmotility (AGID)?
Autoimmune Gastrointestinal Dysmotility (AGID) is a type of dysautonomia that may be idiopathic or associated with cancer elsewhere in the body, most commonly small cell lung cancer. Signs and symptoms may include early satiety (feeling full quickly), nausea, vomiting, bloating, diarrhea, constipation and involuntary weight loss.

Catagories

• Autoimmune Diseases
• Autoinflammatory Diseases
• Digestive Diseases

Cause Classification: Medical


Autoimmune Hemolytic Anemia (AIHA)

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Red Ribbon for Autoimmune Hemolytic Anemia

What is Autoimmune Hemolytic Anemia (AIHA)?
Autoimmune Hemolytic Anemia (AIHA) is a group of rare but serious blood disorders. They occur when the body destroys red blood cells more rapidly than it produces them.

Categories

• Autoimmune Diseases
• Autoinflammatory Diseases

Cause Classification: Medical


Autoimmune Hepatitis (AIH)

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Zebra Ribbon for Rare Diseases

Autoimmune Hepatitis (AIH) is also known as:
• AIH
• Autoimmune Chronic Active Hepatitis
• Lupoid Hepatitis

Subdivisions of Autoimmune Hepatitis (AIH)
• Type 1 AIH
• Type 2 AIH
• Variant AIH

What is Autoimmune Hepatitis (AIH)?
Autoimmune Hepatitis (AIH) is a non-contagious, chronic, inflammatory, autoimmune disease in which one’s own immune system attacks healthy, normal liver cells. The cause of liver cell destruction in this disease is unclear, but may be related to an imbalance in some of the immune system cells. The persistent inflammation within the liver observed in AIH can result in scarring, ultimately leading to cirrhosis, liver failure requiring a liver transplant, and even death. AIH is about 4 times more common in females than males and is commonly associated with other autoimmune conditions.

Catagories

• Autoimmune Diseases
• Autoinflammatory Diseases
• Digestive Diseases

Cause Classification: Medical


Autoimmune Inner Ear Disease (AIED)

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Purple Ribbon for Autoimmune Inner Ear Disease (AIED)

What is Autoimmune Inner Ear Disease (AIED)?
Autoimmune Inner Ear Disease (AIED), is a rare disease that happens when the body's immune system mistakenly attacks the inner ear. It can cause dizziness, ringing in the ears, and hearing loss.

Catagories

• Autoimmune Diseases
• Autoimmune Inflammatory Diseaes

Cause Classification: Medical


Autoimmune Lymphoproliferative Syndrome (ALPS)

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Purple Ribbon for Autoimmune Lymphoproliferative Syndrome (ALPS)

What is Autoimmune Lymphoproliferative Syndrome (ALPS)?
Autoimmune Lymphoproliferative Syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). ALPS is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen.

Catagories

• Autoimmune Diseases
• Autoinflammatory Diseases
• Blood Diseases
• Congenital and Genetic Diseases
• Immune System Diseases
• Rare Cancers

Cause Classification: Medical


Autoimmune Myocarditis

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Red and Purple Ribbon for Autoimmune Myocarditis

What is Autoimmune Myocarditis?
Autoimmune Myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle. Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection, and leg swelling.

Categories

• Autoimmune Diseases
• Autoinflammatory Diseases

Cause Classification: Medical


Autoimmune Neutropenia (AIN)

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Purple Ribbon for Autoimmune Neutropenia

What is Autoimmune Neutropenia (AIN)?
Autoimmune Neutropenia (AIN) is a rare hematological disorder characterized by the autoantibody-induced destruction of neutrophils. The primary mechanism for this is opsonization, which accelerates the phagocytic clearance of neutrophils. Additionally, anti-neutrophil antibodies affect the functions of target proteins, causing impairment of the neutrophil functions. Such sustained severe neutropenia and impairment of the neutrophil functions resulting from AIN can cause life-threatening severe infections.

Categories

• Autoimmune Diseases
• Autoinflammatory Diseases
• Blood Diseases

Cause Classification: Medical


Autoimmune Oophoritis

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Purple Ribbon for Autoimmune Oophoritis

What is Autoimmune Oophoritis?
Autoimmune Oophoritis is a rare cause of primary ovarian insufficiency (POI). It happens when the body's immune system mistakenly attacks the ovaries causing inflammation, atrophy and fibrosis. These changes stop the ovaries from working normally. The main symptoms of autoimmune oophorotis are irregular or absent menstrual periods and symptoms related to ovarian cysts such as abdominal cramping, bloating, nausea and vomiting. Autoimmune oophoritis may occur as part of autoimmune polyglandular syndrome type I and type II, but has also been associated with lupus, pernicious anemia, myasthenia gravis and other autoimmune conditions.

Categories

• Autoimmune Diseases
• Autoinflammatory Diseases
• Female Reproductive Diseases

Cause Classification: Medical


Autoimmune Orchitis

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Purple Ribbon for Autoimmune Orchitis

What is Autoimmune Orchitis?
Autoimmune Orchitis is characterized by testis inflammation and the presence of specific anti-sperm antibodies (ASA). It is classified in two categories. Primary Autoimmune Orchitis is defined by infertility and asymptomatic orchitis associated with ASA (100%) directed to the basement membrane or seminiferous tubules in infertile men, without any systemic disease and usually asymptomatic. Secondary autoimmune orchitis is characterized by symptomatic orchitis and/or testicular vasculitis associated with a systemic autoimmune disease, particularly vasculitis. These individuals typically demonstrate testicular pain, erythema and/or swelling.

Categories

• Autoimmune Diseases
• Autoinflammatory Diseases
• Male Reproductive Diseases

Cause Classification: Medical


Autoimmune Pancreatitis (AIP)

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Purple Ribbon for Autoimmune Pancreatitis

What is Autoimmune Pancreatitis (AIP)?
Autoimmune Pancreatitis (AIP) is a chronic inflammation that is thought to be caused by the body's immune system attacking the pancreas and that responds to steroid therapy. Two subtypes of AIP are now recognized, type 1 and type 2. Autoimmune pancreatitis is a rare, newly recognized disease and can be mistakenly diagnosed as pancreatic cancer.

Categories

• Autoimmune Diseases
• Autoinflammatory Diseases
• Immune System Diseases

Cause Classification: Medical


Autoimmune Polyglandular Syndrome Type 1 (APS-1)

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Zebra Ribbon for Rare Diseases

Autoimmune Polyglandular Syndrome Type 1 (APS-1) is also known as:
• APS-1
• APS Type 1
• Autoimmune-Polyendocrine-Candidiasis-Ectodermal Dystrophy Syndrome
• Autoimmune Polyendocrinopathy Type 1 (APECED)
• Polyglandular Autoimmune (PGA) Syndrome Type 1

What is Autoimmune Polyglandular Syndrome Type 1 (APS-1)?
Autoimmune Polyglandular Syndrome Type 1 (APS-1) is a rare and complex recessively inherited disorder of immune-cell dysfunction with multiple autoimmunities. It presents as a group of symptoms including potentially life-threatening endocrine gland and gastrointestinal dysfunctions.

Categories

• Congenital and Genetic Diseases
• Endocrine Diseases
• Female Reproductive Diseases

Cause Classification: Medical


Autoimmune Polyendocrine Syndrome Type II (APS-II)

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Zebra Ribbon for Rare Diseases

Autoimmune Polyendocrine Syndrome Type II (APS-II) is also known as:
• Diabetes Mellitus, Addison's Disease, Myxedema
• Multiple Endocrine Deficiency Syndrome, Type II
• PGA II
• Polyglandular Autoimmune Syndrome, Type II
• Polyglandular Deficiency Syndrome, Type II
• Schmidt Syndrome

What is Autoimmune Polyendocrine Syndrome Type II (APS-II)?
Autoimmune Polyendocrine Syndrome Type II, also known as Schmidt Syndrome, is a rare autoimmune disorder in which there is a steep drop in production of several essential hormones by the glands that secrete these hormones. When first described, this disorder was thought to involve only adrenal insufficiency (Addison's disease) and thyroid insufficiency (Hashimoto's thyroiditis). However, over time, as more patients were studied, the scope of the disorder was expanded to include disorders of other underperforming endocrine glands. These include the gonads, which secrete sex hormones, the pancreas which secretes insulin and is intimately tied up with diabetes mellitus, and sometimes the parathyroid glands.

Categories

• Autoimmune Diseases
• Autoinflammatory Diseases
• Congenital and Genetic Diseases
• Endocrine Diseases
• Female Reproductive Diseases
• Metabolic Disorders

Cause Classification: Medical


Autoimmune Polyglandular Syndrome Type 3 (APS-3)

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Zebra Ribbon for Rare Diseases

What is Autoimmune Polyglandular Syndrome Type 3 (APS-3)?

Autoimmune Polyglandular Syndrome Type 3 (APS-3) is an autoimmune condition that affects the body's endocrine glands. The syndrome, which typically affects women during middle age, results from failure of the glands to produce their hormones. This condition is characterized by autoimmune thyroiditis along with another organ-specific autoimmune disease.

There are three types of Autoimmune Polyglandular Syndrome Type 3:
• APS3A – Autoimmune Thyroiditis with Immune-Mediated Diabetes Mellitus (IMDM)
• APS3B – Autoimmune Thyroiditis with Pernicious Anemia
• APS3C – Autoimmune Thyroiditis with Vitiligo and/or Alopecia and/or Other Organ-Specific Autoimmune Disease

Categories

• Endocrine Diseases

Cause Classification: Medical


Autoimmune Progesterone Dermatitis (APD)

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Peach Ribbon for Autoimmune Progesterone Dermatitis (APD)

What is Autoimmune Progesterone Dermatitis (APD) ?
Autoimmune Progesterone Dermatitis (APD) is primarily characterized by a recurrent skin rash that varies in severity depending on the phase of the menstrual cycle. The rash generally appears during the second half of the cycle when levels of the hormone, progesterone, begin to rise and it subsides shortly after menstruation. Although the exact underlying cause of APD is not well understood, it is thought to involve an abnormal immune reaction triggered by a woman's own progesterone.

Categories

• Autoimmune Diseases
• Autoinflammatory Diseases
• Skin Diseases

Cause Classification: Medical


Autoimmune Retinopathy

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Purple Ribbon for Autoimmune Retinopathy

What is Autoimmune Retinopathy?
Autoimmune Retinopathy and Cancer-Associated Retinopathy (CAR) are rare eye disorders in which autoantibodies damage the retina, causing progressive vision loss.

Categories

• Autoimmune Diseases
• Autoinflammatory Diseases
• Eye Diseases

Cause Classification: Medical


Autoimmune Thrombocytopenic Purpura (ATP)

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Purple Ribbon for Autoimmune Thrombocytopenic Purpura (ATP)

Autoimmune Thrombocytopenic Purpura (ATP) is also known as:
• Autoimmune Thrombocytopenic Purpura
• ITP
• Thrombocytopenic Purpura Autoimmune

What is Autoimmune Thrombocytopenic Purpura (ATP)?
Autoimmune Thrombocytopenic Purpura (ATP) is a disorder that can lead to easy or excessive bruising and bleeding. The bleeding results from unusually low levels of platelets, the cells that help blood clot. Autoimmune Thrombocytopenic Purpura affects children and adults. Children often develop ATP after a viral infection and usually recover fully without treatment. In adults, the disorder is often long term.

Categories

• Blood Diseases

Cause Classification: Medical


Autoimmune Thyroiditis

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Purple Ribbon for Autoimmune Thyroiditis

What is Autoimmune Thyroiditis?
The thyroid is a small gland in front of the neck that makes hormones that help control just about every organ. When the thyroid does not make enough of these hormones, the body cannot work right. That can affect one’s energy level, mood, and weight.

If the thyroid becomes inflamed, it is called thyroiditis. Sometimes it happens because the body makes antibodies that attack the thyroid by mistake. This condition is called Autoimmune Thyroiditis, Chronic Lymphocytic Thyroiditis, Hashimoto’s Thyroiditis, or Hashimoto’s Disease.

Categories

• Autoimmune Diseases
• Autoinflammatory Diseases
• Immune System Diseases

Cause Classification: Medical


Autoimmune Urticaria

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Purple Ribbon for Autoimmune Urticaria

What is Autoimmune Urticaria?
In about half of patients with chronic idiopathic hives, the explanation is that body's immune system is, in a sense, overactive. The urticaria is "autoimmune". The immune system is attacking the normal tissues of the body and causing hives as a result.

Categories

• Autoimmune Diseases
• Autoinflammatory Diseases
• Skin Diseases

Cause Classification: Medical


Autoimmune Uveitis

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Purple Ribbon for Autoimmune Uveitis

What is Autoimmune Uveitis?
The uvea represents the vascular organ of the eye and it is composed of the iris, ciliary body and, choroid. Autoimmune uveitis (AU) is an inflammatory process of these uveal components due to an autoimmune reaction to self-antigens or caused by an innate inflammatory reaction secondary to an external stimulus. It can present as an isolated entity or associated with a systemic autoimmune or autoinflammatory disease. Because of its proximity to other parts in the eye, inflammation can cause damage to ocular layers such as the retina and structures like the vitreous body and optic nerve. This compromise is considered one of the principal causes of preventable blindness around the world.

Categories

• Autoimmune Diseases
• Autoinflammatory Diseases
• Eye Diseases

Cause Classification: Medical


Autoinflammation with Infantile Enterocolitis (AIFEC)

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Zebra Ribbon for Rare Diseases

Autoinflammation with Infantile Enterocolitis (AIFEC) is also known as:
• AIFEC

What is Autoinflammation with Infantile Enterocolitis (AIFEC)?
Autoinflammation with Infantile Enterocolitis (AIFEC) is a newly identified and extremely rare inflammatory disorder that manifests early in infancy and affects people throughout adulthood. AIFEC is caused by a change in the NLRC4 gene, resulting in increased inflammation and damage to healthy tissues. Individuals with NLRC4 mutations present with enterocolitis (inflammation of the digestive tract causing diarrhea) in infancy and flares of severe and sometimes life-threatening autoinflammation throughout life.

Categories

• Autoimmune Diseases
• Autoinflammatory Diseases
• Digestive Diseases

Cause Classification: Medical


Autosomal Dominant Hereditary Ataxia

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Zebra Ribbon for Rare Diseases

Autosomal Dominant Hereditary Ataxia is also known as:
• Episodic Ataxia
• Spinocerebellar Ataxia

What is Autosomal Dominant Hereditary Ataxia?
Hereditary Ataxias are a group of neurological disorders of varying degrees of rarity that are inherited, in contrast to a related group of neurological disorders that are acquired through accidents, injuries, or other external agents. The hereditary ataxias are characterized by degenerative changes in the brain and spinal cord that lead to an awkward, uncoordinated walk accompanied often by poor eye-hand coordination and abnormal speech.

Categories

• Congenital and Genetic Diseases
• Nervous System Diseases

Cause Classification: Medical


Autosomal Dominant Hyper IgE Syndrome (AD-HIES)

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Zebra Ribbon for Rare Diseases

Autosomal Dominant Hyper IgE Syndrome (AD-HIES) is also known as:
• AD-HIES
• HIES
• HIE Syndrome
• Hyperimmunoglobulin E Recurrent Infection Syndrome
• Job Syndrome, Autosomal Dominant

What is Autosomal Dominant Hyper IgE Syndrome (AD-HIES)?
Autosomal Dominant Hyper IgE Syndrome (AD-HIES) is a rare multisystem primary immunodeficiency disorder. The disorder is characterized by repeated bacterial infections of the skin and lungs, skeletal abnormalities, and characteristic facial features. The first symptom is often the development of a dry, red flaky skin rash at birth or early during infancy.

Categories

• Congenital and Genetic Diseases
• Immune System Diseases
• Skin Diseases

Cause Classification: Medical


Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is also known as:
• ADPKD

Subdivisions of Autosomal Dominant Polycystic Kidney Disease (ADPKD)
• ADPKD1
• ADPKD2

What is Autosomal Dominant Polycystic Kidney Disease?
Autosomal Dominant Polycystic Didney Disease (ADPKD) is a genetic disorder characterized by the formation of cysts within the kidneys. Symptoms caused by cyst formation in the kidneys include high blood pressure, pain on the sides of the body between the last rib and the hip, blood in the urine and progressively poor function of the kidneys. In most individuals, ADPKD eventually progresses to cause end stage renal disease, requiring renal replacement therapy, either dialysis or renal transplantation. ADPKD is not simply a kidney disorder and other organ systems of the body can potentially be affected by the development of cysts.

Categories

• Congenital and Genetic Diseases
• Kidney and Urinary Diseases

Cause Classification: Medical


Autosomal Dominant Porencephaly Type I

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

What is Autosomal Dominant Porencephaly Type I?
Autosomal Dominant Porencephaly Type I is a rare genetic disorder in which fluid-filled cysts and cavities develop on the surface of the brain. Affected individuals are predisposed to damage to small blood vessels, including the small vessels within the brain.

Category

• Nervous System Diseases

Cause Classification: Medical


Autosomal Dominant Tubulo-Interstitial Kidney Disease (ADTKD)

Awareness Ribbon Color:

Zebra Ribbon for Rare Diseases

Autosomal Dominant Tubulo-Interstitial Kidney Disease (ADTKD) is also known as:
• Familial Juvenile Hyperuricemic Nephropathy
• Medullary Cystic Kidney Disease
• Renin Associated Kidney Disease
• Uromodulin Associated Kidney Disease
• Medullary Cystic Kidney Disease Type 1
• Medullary Cystic Kidney Disease type 2
• ADTKD

Subdivisions of Autosomal Dominant Tubulo-Interstitial Kidney Disease (ADTKD)
• Autosomal Dominant Tubulo-Interstitial Kidney Disease due to MUC1 Mutations (Mucin-1 Kidney Disease)
• Autosomal Dominant Tubulo-Interstitial Kidney Disease due to UMOD Mutations (Uromodulin Kidney Disease)
• Autosomal Dominant Tubulo-Interstitial Kidney Disease due to Renin Mutations

What is Autosomal Dominant Tubulo-Interstitial Kidney Disease (ADTKD)?
Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) describes a group of diseases that affect the tubules of the kidney.

ADTKD-UMOD (also known as uromodulin kidney disease) is the most common form of this condition. It is caused by a mutation in a gene producing a protein called uromodulin. This protein is only made in the kidney. The mutation causes affected individuals to develop gout, frequently in their teenage years, and progressive kidney disease. This particular condition has also been called familial juvenile hyperuricemic nephropathy type1 or medullary cystic kidney disease type 2.

ADTKD-REN is caused by mutations in the gene producing a protein called renin. Affected individuals usually develop anemia in childhood. Often, their blood potassium levels are mildly elevated, and their blood uric acid levels are also elevated. These individuals also suffer from gout frequently. This condition has also been called familial juvenile hyperuricemic nephropathy type 2.

ADTKD-MUC1 (MUC1 kidney disease) is due to mutations in the gene producing the protein mucin-1. Individuals with this type of autosomal dominant tubulointerstitial kidney disease have slowly progressive chronic kidney disease. They do not have any symptoms when they are young, but as they get older, their kidney function declines, and affected individuals usually require dialysis or a kidney transplant between the 3rd and seventh decades of life. Unlike the other types of the disease, individuals with MUC1 mutations do not have frequent gout, anemia or other symptoms.

Autosomal Dominant Tubulotubulointerstitial Kidney Disease of unknown genetic cause is the term used to describe families with this disease in whom the cause is not known. These individuals usually have chronic kidney disease but do not have gout.

Categories

• Kidney and Urinary Diseases

Cause Classification: Medical


Autosomal Recessive Hyper IgE Syndrome (AR-HIES)

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Zebra Ribbon for Rare Diseases

Autosomal Recessive Hyper IgE Syndrome (AR-HIES) is also known as:
• AR-HIES
• HIES
• HIE Syndrome
• Hyperimmunoglobulin E Recurrent Infection Syndrome
• Job Syndrome, Autosomal Recessive

What is Autosomal Recessive Hyper IgE Syndrome (AR-HIES)?
Autosomal Recessive Hyper IgE Syndrome (AR-HIES) is a very rare primary immunodeficiency disorder. Symptoms often become apparent at birth or early during infancy or childhood. The disorder is characterized by the triad of highly elevated levels of IgE in serum, recurring abscesses of the skin, and recurrent pneumonia.

Categories

• Immune System Diseases

Cause Classification: Medical


Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Awareness Ribbon Color:

Blue Jeans Ribbon for Genetic Diseases

Autosomal Recessive Polycystic Kidney Disease (ARPKD) is also known as:
• ARPKD
• Polycystic Kidney Disease, Infantile

What is Autosomal Recessive Polycystic Kidney Disease (ARPKD)?
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare genetic disorder characterized by the formation of fluid-filled sacs in the kidneys. Most affected infants have enlarged kidneys during the newborn period and some cases may be fatal at this time. ARPKD is not simply a kidney disease and additional organ systems of the body may also be affected, especially the liver. High blood pressure, excessive thirst, frequent urination and feeding difficulties may also occur.

Categories

• Congenital and Genetic Diseases
• Kidney and Urinary Diseases
• Male Reproductive Diseases

Cause Classification: Medical


Axonal and Neuronal Neuropathy (AMAN)

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Purple Ribbon for Axonal and Neuronal Neuropathy

What is Axonal and Neuronal Neuropathy?
Axonal and Neuronal Neuropathy (AMAN) is a variant of Guillain-Barré Syndrome, an autoimmune disease. It is characterized by acute paralysis and loss of reflexes without sensory loss. The syndrome typically presents as a progressive symmetric paralysis with areflexia, often causing respiratory failure. Antibodies attack the coating of the motor neurons without causing inflammation. It does not affect sensory neurons, so sensation remains intact despite loss of movement.

Category

• Autoimmune Diseases
• Autoinflammatory Diseases
• Nervous System Diseases

Cause Classification: Medical