The DLD gene, also known as dihydrolipoamide dehydrogenase, is an essential gene that plays a crucial role in cellular function. It is listed as one of the genes responsible for the Leigh syndrome, a genetic disorder that affects the central…
The COL7A1 gene encodes the alpha-1 chain of type VII collagen, a major component of the extracellular matrix in the dermis. Mutations in this gene are associated with a form of epidermolysis bullosa called dystrophic epidermolysis bullosa (DEB). DEB is…
Ichthyosis is a term that refers to a group of rare genetic disorders characterized by dry, thickened, and scaly skin. Hystrix-like ichthyosis is a specific subtype of ichthyosis that is associated with deafness. Patients with hystrix-like ichthyosis exhibit abnormal skin…
The TEK gene, also known as the TIE2 gene, is a genetic variant that has been found to be associated with multiple malformations and diseases. It plays a crucial role in the development and maintenance of blood vessels, particularly in…
Rotor syndrome is a rare genetic condition that affects blood transport in the body. It is named after the Rotor Blood Group System, which was first described in patients with this syndrome. The exact cause of the condition is not…
MDA5 deficiency is a rare genetic condition that affects a person’s immune system. It is caused by mutations in the MDA5 gene, which is responsible for producing a protein that plays a key role in the immune response to viral…
Transthyretin (TTR) amyloidosis is a rare genetic disorder that affects the production and buildup of abnormal proteins in various body systems. It is primarily characterized by the occurrence of a polyneuropathy that can lead to significant disability and decrease in…
The ACTG2 gene is involved in various disorders and conditions related to intestinal motility. It provides instructions for the production of actin, a protein that plays a crucial role in the movement and contraction of muscles, including those in the…
The TERT gene, also known as the telomerase reverse transcriptase gene, is a key component in the maintenance of telomeres, which are the protective caps on the ends of chromosomes. Telomeres play a crucial role in cell division and preventing…
Congenital afibrinogenemia is a rare genetic condition characterized by a deficiency of the blood clotting protein fibrinogen. It is caused by mutations in the FGA, FGB, or FGG genes, which provide instructions for making fibrinogen. The frequency of this condition…