Waardenburg syndrome is a rare genetic condition that affects the pigmentation of the hair and eyes, as well as hearing. It is caused by changes in several genes, with the associated genetic variants cataloged in resources such as OMIM and…
The APRT gene, also known as Adenine Phosphoribosyltransferase gene, is a scientific term that refers to a specific gene responsible for the production of the APRT enzyme. The APRT enzyme plays a crucial role in the purine salvage pathway, which…
Carnitine palmitoyltransferase II deficiency, also known as CPT II deficiency or CPT2 deficiency, is a rare genetic condition that affects the enzyme carnitine palmitoyltransferase II. This enzyme is responsible for transporting long-chain fatty acids into the mitochondria of cells, where…
The FA2H gene, also known as fatty acid 2-hydroxylase, is a genetic gene that codes for the production of an enzyme called FA2H. This enzyme plays a crucial role in the formation of fatty acids, particularly 2-hydroxylated fatty acids, which…
Genetic Conditions H include a wide range of disorders that affect various systems in the body. One such condition is Hutchinson-Gilford Progeria Syndrome (HGPS), also known as the “premature aging disease.” HGPS is a rare genetic disorder characterized by accelerated…
The FREM2 gene, also known as Fraser extracellular matrix complex subunit 2, plays a crucial role in the development and function of various organs, including the kidneys and urinary tract. Mutations or changes in the FREM2 gene have been associated…
Brugada syndrome is a rare genetic disease that affects the electrical system in the heart, resulting in abnormal heartbeats. This syndrome, also known as Sudden Unexplained Nocturnal Death Syndrome (SUNDS), is estimated to have a frequency of 5 in 10,000…
The NSD2 gene, also known as nuclear receptor binding SET domain protein 2, is a genetic gene that has been extensively studied in scientific research. It plays a significant role in multiple diseases and conditions, including myeloma and Wolf-Hirschhorn syndrome.…
Cytochrome P450 oxidoreductase deficiency is a rare genetic condition that affects both men and women. It is also known by other names such as POR deficiency and combined P450 oxidase deficiency. This condition is caused by mutations in the POR…
Baraitser-Winter syndrome is a rare genetic condition that affects the development of multiple parts of the body. It was first described in 1988 by Baraitser and Winter, and since then, more information about this syndrome has been published on PubMed,…