The MIR17HG gene is located in the central cluster of related genes on chromosome 13. It has been associated with overgrowth and several listed diseases and conditions. Changes or variants in the miRNAs of the MIR17HG gene have been linked…
Oxcarbazepine Oxcarbazepine (Trileptal) is used alone or in combination with other medications to control certain types of seizures in adults and children. Oxcarbazepine extended-release tablets (Oxtellar XR) are used in combination with other medications to control certain types of seizures…
The DPYD gene, also known as dihydropyrimidine dehydrogenase, is responsible for the production of an enzyme that plays a crucial role in the metabolism of pyrimidines – a type of organic compound. This gene is located on chromosome 1p22.2 and…
Arginase deficiency is a rare genetic condition caused by mutations in the ARG1 gene. It is inherited in an autosomal recessive manner. Arginase is an enzyme that helps in the breakdown of arginine, an amino acid. The deficiency of this…
Polycystic ovary syndrome (PCOS) is a common health condition that affects the ovaries in women. It is characterized by hormonal imbalances, hyperandrogenism (excessive levels of androgens or male hormones), and the presence of multiple cysts on the ovaries. PCOS can…
Pompe disease, also known as glycogen storage disease type II, is a rare genetic condition with a frequency of about 1 in every 40,000 births. This condition is named after the Dutch pathologist J.C. Pompe who first described it in…
Noninvasive prenatal testing (NIPT) is a scientific advancement in the field of prenatal genetics that allows for the screening of certain genetic disorders in a fetus. This testing method has gained popularity in recent years because it provides more accurate…
The ABCG8 gene, also known as the ATP-binding cassette sub-family G member 8 gene, is a genetic component that plays a crucial role in the body. Situated on chromosome 2, this gene encodes sterolin-2, a protein that is vital for…
The CYBA gene, also known as cytochrome b-245 alpha chain, is one of the genes responsible for the production of the enzyme cytochrome b-245. This enzyme is a major component of the NADPH oxidase complex, which generates reactive oxygen species…
Aromatase deficiency is a rare genetic disorder that affects the conversion of androgens to estrogens. It is more common in females, but can also appear in males. This deficiency causes a variety of symptoms, including hirsutism in women and delayed…