Alpha-mannosidosis, infantile form is a rare genetic disorder caused by a deficiency of the enzyme alpha-mannosidase. This enzyme is responsible for breaking down complex sugars in the body. When the enzyme is deficient, these sugars accumulate in...

Alpha-N-acetylgalactosaminidase deficiency, also known as alpha-Galactosidase A deficiency, is a rare genetic disorder caused by a deficiency of the enzyme alpha-N-acetylgalactosaminidase. This enzyme is responsible for breaking down certain compl...

Alpha-N-acetylgalactosaminidase deficiency type 1 (also known as alpha-Galactosidase A deficiency or Fabry disease) is a rare, inherited disorder caused by a deficiency of the enzyme alpha-galactosidase A. This enzyme is responsible for breaking d...

Alpha-N-acetylgalactosaminidase deficiency type 2 (also known as alpha-Galactosidase A deficiency type 2) is a rare genetic disorder caused by a deficiency of the enzyme alpha-N-acetylgalactosaminidase. This enzyme is responsible for breaking down...

Alpha-N-acetylgalactosaminidase deficiency type 3 (also known as alpha-Galactosidase A deficiency type 3) is a rare genetic disorder caused by a deficiency of the enzyme alpha-N-acetylgalactosaminidase (alpha-Gal A). This enzyme is responsible for...

Alpha-thalassemia is an inherited blood disorder caused by a mutation in the alpha-globin gene. It affects the production of hemoglobin, the protein in red blood cells that carries oxygen throughout the body. People with alpha-thalassemia have few...

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...