Carbamoyl phosphate synthetase I deficiency is a rare genetic condition caused by a deficiency of the enzyme carbamoyl phosphate synthetase I. This enzyme is involved in the urea cycle, a process in the liver that converts harmful ammonia into urea…
The NEU1 gene is a gene that encodes the enzyme neuraminidase, also known as sialidase. This enzyme is involved in the breakdown of sialic acid-containing molecules. Mutations in the NEU1 gene are related to a genetic condition known as sialidosis.…
The HAX1 gene is a genetic variant that is associated with severe congenital neutropenia, a condition characterized by extremely low levels of neutrophils, a type of white blood cell. Neutropenia can lead to frequent and severe bacterial infections, as neutrophils…
The FGF23 gene is involved in regulating the metabolism of phosphate in the body. It is primarily expressed in tissues such as the kidneys, where it plays a crucial role in maintaining phosphate balance. Mutations in the FGF23 gene can…
Episodic ataxia is a rare neurological condition that affects a person’s ability to coordinate movements. It is caused by genetic alterations in certain genes, including KCNA1 and CACNA1A. These genes play a role in the function of ion channels in…
Myofibrillar myopathy is a genetic condition characterized by the weakness of the muscles. It is more commonly known as a neuromuscular disorder that affects the myofibrils – the complex structures within muscle fibers that provide strength and function to the…
Familial male-limited precocious puberty, also known as testotoxicosis, is a rare genetic disorder that affects males. It is characterized by the early onset of puberty in boys, often before the age of 9. This condition is caused by mutations in…
The ITPKC gene, also known as Inositol-trisphosphate 3-kinase C, is one of the genes listed in the OMIM catalog. It plays a crucial role in the regulation of calcium signaling in cells. Mutations in the ITPKC gene have been found…
Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) is a rare genetic condition that affects the enzyme responsible for breaking down very long-chain fatty acids. This deficiency can lead to a variety of symptoms and complications, including muscle weakness and fatigue, low…
The PYCR1 gene is involved in the production of the pyrroline-5-carboxylate reductase 1 enzyme, which plays a crucial role in various cellular processes. Mutations in this gene have been linked to different genetic conditions, including Autosomal Recessive Cutis Laxa Type…