Alpha-thalassemia-intellectual disability syndrome (ATIS) is a rare genetic disorder caused by a mutation in the HBA1 and HBA2 genes located on chromosome 16. This mutation results in a decrease in the production of alpha-globin, a protein that is...

Alpha-thalassemia-myelodysplastic syndrome (AT-MDS) is a rare genetic disorder caused by a mutation in the alpha-globin gene. It is characterized by anemia, thrombocytopenia, neutropenia, and an increased risk of developing acute myeloid leukemia....

Alpha-thalassemia-X-linked intellectual disability syndrome (ATR-X syndrome) is a rare genetic disorder that affects the development of the brain and other organs. It is caused by a mutation in the ATRX gene, which is located on the X chromosome. ...

ALPI-related inflammatory bowel disease (IBD) is a rare form of IBD that is caused by an autoimmune reaction to a protein called alphacrystallin A (ALPI). This protein is found in the lining of the small intestine and is thought to play a role in ...

Alport Syndrome is a genetic disorder that affects the kidneys and the ears. It is caused by mutations in the COL4A5 gene, which is responsible for producing type IV collagen, a protein that helps form the basement membrane in the kidneys, inner e...

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is a rare genetic disorder that affects the kidneys, eyes, and ears. It is caused by a mutation in the COL4A5 gene, which is responsible for producing type IV colla...

Alstrom Syndrome is a rare genetic disorder that affects multiple body systems. It is characterized by vision and hearing loss, obesity, diabetes, heart problems, and kidney and liver dysfunction. It is caused by mutations in the ALMS1 gene....

Alternating Hemiplegia of Childhood (AHC) is a rare neurological disorder that affects the brain and nervous system. It is characterized by episodes of temporary paralysis on one side of the body (hemiplegia) that can last from a few minutes to se...

Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV) is a rare, life-threatening lung disorder that affects newborns. It is characterized by abnormal development of the alveoli (air sacs) and capillaries (tiny blood vessels)...

Alveolar echinococcosis is a parasitic infection caused by the larval form of the tapeworm Echinococcus multilocularis. It is a rare but serious disease that affects the liver, lungs, and other organs. Symptoms may include abdominal pain, fever, w...

Alveolar soft part sarcoma (ASPS) is a rare type of cancer that affects soft tissues such as muscles, tendons, and ligaments. It usually occurs in the lower extremities, but can also occur in other parts of the body. ASPS is a slow-growing cancer ...

Alveolar soft tissue sarcoma (ASTS) is a rare type of cancer that affects the soft tissues of the body, such as fat, muscle, nerves, and blood vessels. It is most commonly found in the arms, legs, and trunk, but can also occur in other parts of th...

Alveolitis, Extrinsic Allergic is a type of lung inflammation caused by an allergic reaction to inhaled substances. It is also known as hypersensitivity pneumonitis or extrinsic allergic alveolitis. Symptoms of this condition include shortness of ...

ALys amyloidosis is a rare, inherited form of amyloidosis caused by mutations in the ALys gene. It is characterized by the buildup of abnormal proteins in the body's organs and tissues, which can lead to organ failure. Symptoms of ALys amyloidosis...

Alzheimer's disease is a progressive neurologic disorder that causes the brain to shrink (atrophy) and brain cells to die. Alzheimer's disease is the most common cause of dementia — a continuous decline in thinking, behavioral and social ski...

Alzheimer's disease is a progressive neurologic disorder that causes the brain to shrink (atrophy) and brain cells to die. Alzheimer's disease is the most common cause of dementia — a continuous decline in thinking, behavioral and social ski...

Amaurosis-hypertrichosis syndrome is a rare genetic disorder characterized by a combination of vision loss (amaurosis) and excessive hair growth (hypertrichosis). It is caused by a mutation in the GNAQ gene, which is responsible for the production...