Alopecia-intellectual disability syndrome is a rare genetic disorder characterized by the absence of hair (alopecia) and intellectual disability. It is caused by a mutation in the gene encoding the protein filaggrin, which is involved in the forma...

Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome (AIDHH) is a rare genetic disorder characterized by alopecia (hair loss), intellectual disability, and hypergonadotropic hypogonadism (elevated levels of gonadotropins, hormo...

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 (spasticity), seizures, and loss of co...

Alpers-Huttenlocher syndrome (AHS) is a rare, progressive neurological disorder that affects the brain and liver. It is characterized by seizures, developmental delay, and liver failure. It is caused by mutations in the POLG gene, which is respons...

Alpha delta granule deficiency is a rare genetic disorder characterized by a deficiency of alpha delta granules, which are specialized granules found in the cytoplasm of certain types of white blood cells. People with this disorder have an increas...

Tangier Disease is an inherited blood disorder involving decreased concentrations of fat compounds in the blood called high-density lipoproteins (sometimes called "good cholesterol"). Large amounts of these compounds may accumulate in certain orga...

What is alpha thalassemia? Alpha thalassemia is a blood disorder that reduces the production of normal hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body. What are the types of...

Alpha thalassemia is a genetic disorder that affects the production of hemoglobin, the protein in red blood cells that carries oxygen throughout the body. It is caused by a mutation in one or more of the four genes that control the production of a...

Alpha Thalassemia X-linked Intellectual Disability Syndrome (ATXID) is a rare genetic disorder caused by a mutation in the ATRX gene. It is characterized by intellectual disability, developmental delays, and alpha thalassemia, a type of anemia. Sy...

The Alpha-1 antitrypsin deficiency is a condition or disease that causes the body to not produce enough Alpha-1 antitryp...

Alpha-1 Antitrypsin Deficiency (AATD) is an inherited disorder that can cause lung and liver disease. It is caused by a deficiency of the protein alpha-1 antitrypsin (AAT), which is produced in the liver. AAT helps protect the lungs from damage ca...

Alpha-1-antitrypsin deficiency (AATD) is an inherited disorder that can cause lung and liver disease. It is caused by a deficiency of the protein alpha-1-antitrypsin (AAT), which is produced in the liver. AAT helps protect the lungs from damage ca...

Alpha-B crystallin-related late-onset myopathy is a rare, inherited disorder that affects the muscles. It is caused by mutations in the gene that codes for the alpha-B crystallin protein. Symptoms typically begin in adulthood and include muscle we...

Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 is a rare, inherited neuromuscular disorder that affects the muscles of the arms and legs. It is caused by mutations in the DAG1 gene, which is responsible for producing the protein alp...

Alpha-heavy chain disease is a rare form of amyloidosis, a condition in which abnormal proteins called amyloid fibrils accumulate in the body's organs and tissues. Alpha-heavy chain disease is caused by the accumulation of abnormal proteins called...

Alpha-Mannosidosis 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. People with alpha-mannosidosis experience a wide range of symptoms, incl...

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