Adiposis dolorosa, also known as Dercum’s disease, is a rare and painful condition characterized by the excessive growth of fatty tissue. It is often accompanied by depression and is more common in women. This condition, which is sometimes referred to…
The PSAP gene, also known as the PSAP variant, is a gene that plays a crucial role in the health and function of myelin, a substance that protects nerve fibers. Mutations in the PSAP gene can lead to a variety…
North American Indian Childhood Cirrhosis is a rare genetic condition that affects children of Native American descent. It was first described by Mercier and Tuchweber in 1988. The condition is characterized by severe liver disease, which leads to liver failure…
The ARMS2 gene, also known as the age-related macular degeneration susceptibility 2 gene, is a gene that is associated with age-related macular degeneration (AMD). AMD is a common disease that affects the macula, the central part of the retina, and…
The MBL2 gene, also known as the Mannose-Binding Lectin 2 gene, is a genetic variant that plays a crucial role in the immune system. This gene provides important information for the health of individuals and is linked to various conditions…
Hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis (poiktmp) is a rare genetic condition characterized by the progressive development of skin abnormalities, joint contractures, muscle weakness, and lung scarring. It is also known as poikiloderma with tendon contractures…
The ALDH5A1 gene is responsible for producing an enzyme called succinic semialdehyde dehydrogenase. This enzyme helps convert a molecule called succinic semialdehyde into another molecule called succinic acid. The ALDH5A1 gene is listed in the OMIM database of genetic conditions…
Isolated Duane retraction syndrome is a rare clinical condition that affects the movement of the eye. It is characterized by limited horizontal eye movement, retraction of the eyeball into the orbit, and narrowing of the eye opening. This condition is…
The BRAF genetic test is often used in the diagnosis and treatment of certain types of cancers, especially melanoma, which is a serious form of skin cancer. This test helps determine whether a specific gene, called the BRAF gene, has…
Dopa-responsive dystonia, also known as dopa-responsive dystonia or DRD, is a rare neurological condition that is primarily inherited through genetic factors. In most cases, this condition is caused by a mutation or a deletion in the GCH1 gene, which affects…