Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (BCKDK) is a rare genetic disorder that affects the brain and nervous system. It is caused by a mutation in the BCKDK gene, which is responsible for producing ...

Autism-facial port-wine stain syndrome is a rare genetic disorder characterized by autism spectrum disorder, facial port-wine stains, and other physical and neurological abnormalities. It is caused by a mutation in the PIK3CA gene, which is respon...

Autoimmune encephalitis is a type of brain inflammation caused by the body's own immune system attacking healthy brain cells. It can cause a wide range of neurological symptoms, including confusion, memory loss, seizures, and difficulty speaking. ...

Autoimmune encephalitis is a type of brain inflammation caused by the body's own immune system attacking healthy brain cells. It can cause a wide range of neurological symptoms, including confusion, memory loss, seizures, and difficulty speaking. ...

Autoerythrocyte sensitization syndrome (AESS) is a rare condition in which a person's body develops an immune response to their own red blood cells. This can lead to anemia, fatigue, and other symptoms. AESS is thought to be caused by an autoimmun...

Autoimmune blistering diseases are a group of rare skin disorders in which the body’s immune system mistakenly attacks healthy tissue. These diseases cause blisters to form on the skin and mucous membranes. Common autoimmune blistering diseases ...

Autoimmune encephalopathy with parasomnia and obstructive sleep apnea (AEPOSA) is a rare neurological disorder characterized by an autoimmune response to the brain that causes abnormal sleep patterns, including parasomnias (abnormal behaviors duri...

Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (AEE-SCID) is a rare, inherited disorder that affects the immune system. People with AEE-SCID have a weakened immune system, which makes them more susceptible ...

Autoimmune hemolytic anemia, warm type is a type of autoimmune disorder in which the body's immune system mistakenly attacks and destroys its own red blood cells. This type of anemia is caused by the production of antibodies that attach to the red...

Autoimmune hepatitis is a chronic, progressive liver disease caused by an abnormal immune response. It occurs when the body's immune system mistakenly attacks healthy liver cells, leading to inflammation and damage to the liver. Symptoms of autoim...

Autoimmune hepatitis type 1 is a chronic liver disease caused by the body's immune system attacking the liver. It is characterized by inflammation of the liver, which can lead to scarring and cirrhosis. Symptoms may include fatigue, abdominal pain...

Autoimmune hepatitis type 2 is a rare form of autoimmune hepatitis, a chronic liver disease caused by the body's immune system attacking the liver. It is characterized by inflammation of the liver, which can lead to scarring and cirrhosis. Symptom...

Autoimmune hypoparathyroidism is a rare autoimmune disorder in which the body's immune system mistakenly attacks and destroys the parathyroid glands, which are responsible for producing the hormone parathyroid hormone (PTH). This hormone helps reg...

Autoimmune interstitial lung disease-arthritis syndrome (AILD-A) is a rare autoimmune disorder characterized by the presence of both interstitial lung disease (ILD) and arthritis. It is a form of systemic autoimmune disease, meaning that it affect...

Autoimmune limbic encephalitis is a rare neurological disorder caused by an autoimmune reaction in which the body's immune system mistakenly attacks healthy cells in the brain. Symptoms of autoimmune limbic encephalitis can include seizures, confu...

Autoimmune lymphoproliferative syndrome (ALPS) is a rare inherited disorder of the immune system. It is characterized by an overproduction of white blood cells, which can lead to enlarged lymph nodes, spleen, and liver. ALPS can also cause autoimm...

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency (ALPS-CTLA4) is a rare, inherited disorder that affects the immune system. It is caused by a mutation in the CTLA4 gene, which is responsible for producing a protein called cyto...