Angelman syndrome is a genetic disorder caused by a deletion of a small piece of chromosome 15 in the region known as 15q11-q13. This deletion is usually inherited from the mother. The deletion results in the loss of several genes, which can lead ...

Angelman syndrome is a genetic disorder caused by a deletion of a small piece of chromosome 15, or by a mutation in the UBE3A gene located on the same chromosome. It is also caused by paternal uniparental disomy of chromosome 15, which is when bot...

What is angina? The heart is the pump responsible for circulating blood throughout the body. Myocardium (myo=muscle + cardium=muscle) is the heart muscle that contracts to pump that blood and like any other muscle, it requires oxygen rich ...

The heart is the pump responsible for circulating blood throughout the body. Myocardium (myo=muscle + cardium=muscle) is the heart muscle that contracts to pump that blood and like any other muscle, it requires oxygen rich blood for energy. Angina...

Angiocentric glioma is a rare type of brain tumor that is typically found in children and young adults. It is a low-grade tumor that is slow-growing and usually benign. It is characterized by the presence of abnormal blood vessels that are surroun...

Angioimmunoblastic T-Cell Lymphoma (AITL) is a rare type of non-Hodgkin lymphoma (NHL) that affects the T-cells of the immune system. It is characterized by the presence of abnormal T-cells in the blood and lymph nodes, as well as an increase in t...

Angiomatoid fibrous histiocytoma (AFH) is a rare type of soft tissue tumor that usually occurs in children and young adults. It is a benign tumor that is usually found in the arms, legs, or trunk. AFH is composed of a mixture of spindle cells, his...

Angioosteohypotrophic syndrome is a rare genetic disorder characterized by abnormal development of the blood vessels, bones, and muscles. It is caused by mutations in the PEX1 gene, which is responsible for the production of an enzyme called perox...

Angiosarcoma is a rare type of cancer that develops in the cells that line the blood vessels and lymph vessels. It is most commonly found in the skin, scalp, and soft tissues of the head and neck, but can also occur in other parts of the body. Sym...

Angiosarcoma of the scalp is a rare type of cancer that affects the scalp and other areas of the head. It is a malignant tumor that develops from the cells that line the blood vessels. Symptoms of angiosarcoma of the scalp include a lump or swelli...

Angiostrongyliasis is a parasitic infection caused by the roundworm Angiostrongylus cantonensis. It is also known as rat lungworm and is most commonly found in rodents, such as rats, and other animals, such as snails and slugs. Humans can become i...

Angora hair nevus is a rare skin condition characterized by the presence of fine, silky, and often curly hair on the face, neck, and upper chest. It is caused by an abnormal growth of hair follicles in the affected area. The condition is usually p...

Angular cheilitis, also known as perleche, is a common inflammatory condition that affects the corners of the mouth. It is characterized by redness, cracking, and sometimes painful sores at the corners of the lips. The condition can be caused by a...

Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome (AEO) is a rare genetic disorder characterized by a combination of ectodermal dysplasia, immunodeficiency, osteopetrosis, and lymphedema. Ectodermal dysplasia is a ...

Aniridia is a rare genetic disorder that affects the eyes. It is characterized by the partial or complete absence of the iris, the colored part of the eye. People with aniridia may experience decreased vision, sensitivity to light, and increased r...

Aniridia Cerebellar Ataxia Mental Deficiency (ACAMD) is a rare genetic disorder characterized by the absence of the iris of the eye (aniridia), ataxia (poor coordination), mental deficiency, and other neurological problems. It is caused by a mutat...

Aniridia-absent patella syndrome is a rare genetic disorder characterized by the absence of the iris of the eye (aniridia), the absence of the kneecap (patella), and other physical abnormalities. It is caused by a mutation in the PAX6 gene, which ...