The COL11A2 gene is associated with a disorder known as autosomal recessive otospondylomegaepiphyseal dysplasia (OSMED). OSMED is a rare genetic condition that affects the development of the ears, bones, and joints. Symptoms of OSMED include hearing loss, skeletal abnormalities, and…
The ABCB4 gene, also known as the ATP-binding cassette sub-family B member 4 gene, is responsible for encoding a protein called the multidrug resistance protein 3 (MDR3). This protein is primarily found in the liver and plays a crucial role…
The ABCD1 gene is a genetic variant that has been linked to the development of X-linked adrenoleukodystrophy (ALD), a rare genetic disorder characterized by the accumulation of various fatty acids. This gene plays a crucial role in the transportation of…
The GNAT1 gene is a gene that is responsible for encoding the alpha subunit of the guanine nucleotide-binding protein (G-protein) in rod cells of the retina. This gene is known to be associated with several genetic conditions, including congenital stationary…
Scoliosis — a condition characterized by an abnormal curvature of the spine — is generally rare, affecting only about 2-3% of the population. When scoliosis develops in adolescence and has no known cause, it is called Adolescent Idiopathic Scoliosis (AIS).…
Complement component 2 deficiency is a rare genetic condition that affects the immune system. It is caused by mutations in the C2 gene, which is responsible for producing a protein involved in the complement system. The complement system is a…
Vici syndrome is a rare genetic condition that was first described in 1988. It is named after the initials of the first four patients (three siblings and a single unrelated patient) reported with this syndrome. Vici syndrome is characterized by…
Primary myelofibrosis is a rare neoplasm of the bone marrow and is classified under the myeloproliferative diseases. It is associated with the production of fibrous tissue in the bone marrow, which leads to the replacement of normal blood-forming cells. This…
Hereditary myopathy with early respiratory failure (HMERF) is a rare genetic condition characterized by weakness and failure of the respiratory muscles at an early age. It is caused by a mutation in the HMERF gene, although the exact frequency of…
The LIPA gene, also known as the lipase A gene, is responsible for encoding the lysosomal acid lipase enzyme. This enzyme plays a crucial role in the breakdown and removal of lipids, including cholesteryl esters and triglycerides, within the lysosomes…