Ahumada-Del Castillo 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 (lactation) not associated...

AICA-ribosiduria is an inherited disorder caused by a deficiency of the enzyme AICA-ribosidase. This enzyme is responsible for breaking down the amino acid AICA-ribose, which is found in the body. People with this disorder have an accumulation of ...

Aicardi Syndrome is a rare genetic disorder that affects the development of the brain and the eyes. It is characterized by the absence of a structure in the brain called the corpus callosum, which is responsible for connecting the two hemispheres ...

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 callosu...

AIDS Dysmorphic Syndrome (ADS) is a condition that affects people living with HIV/AIDS. It is characterized by physical changes in the body, such as wasting, thinning of the skin, and changes in facial features. It can also cause psychological sym...

AIDS wasting syndrome is a condition that is caused by HIV infection and is characterized by unintentional weight loss, muscle wasting, and weakness. It is caused by the body's inability to absorb nutrients and can lead to severe malnutrition....

AKT2-related familial partial lipodystrophy is a rare genetic disorder that affects the body's ability to store fat. It is caused by mutations in the AKT2 gene, which is responsible for producing an enzyme that helps regulate the metabolism of fat...

AL amyloidosis is a rare, life-threatening disorder caused by the buildup of abnormal proteins called amyloid in the body's organs and tissues. It is caused by a type of plasma cell disorder, such as multiple myeloma or a related disorder. Symptom...

ALA Dehydratase Deficiency Porphyria (ADP) is a rare genetic disorder that affects the body’s ability to produce heme, a component of hemoglobin. ADP is caused by a deficiency of the enzyme ALA dehydratase, which is responsible for converting th...

Alacrimia-choreoathetosis-liver dysfunction syndrome (ACLDS) is a rare genetic disorder characterized by a combination of three distinct symptoms: alacrimia (decreased tear production), choreoathetosis (involuntary, jerky movements of the arms and...

ALAD Porphyria is a rare genetic disorder caused by a deficiency of the enzyme ALAD (aminolevulinic acid dehydratase). This enzyme is responsible for the production of heme, a molecule that is essential for the production of hemoglobin, the protei...

Alagille Syndrome is a rare genetic disorder that affects the liver, heart, and other organs. It is caused by a mutation in the JAG1 gene, which is responsible for producing a protein that helps regulate the development of the liver, heart, and ot...

Alagille syndrome is a genetic disorder caused by a microdeletion of the short arm of chromosome 20 (20p12). It is characterized by a wide range of symptoms, including liver problems, heart defects, skeletal abnormalities, and facial features. It ...

Alagille syndrome is a genetic disorder caused by a mutation in the JAG1 gene. This gene is responsible for producing a protein that helps regulate the development of the heart, liver, and other organs. The mutation in the JAG1 gene results in a d...

No, Alagille syndrome is not due to a NOTCH2 point mutation. It is caused by mutations in the JAG1 or NOTCH2 genes....