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…
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).…
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…
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…
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…
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…
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 HNF1B gene, also known as TCF2, is a transcription factor that is associated with various conditions. HNF1B is located on chromosome 17q12 and encodes a protein called hepatocyte nuclear factor 1-beta. This gene plays a crucial role in the…
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…
Schizoaffective disorder is a mental health condition that combines features of both schizophrenia and mood disorders. It is considered to be a chronic condition that can cause significant impairment in daily functioning. The exact causes of schizoaffective disorder are unclear,…