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…
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…
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…
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…
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…
Permanent neonatal diabetes mellitus (PNDM) is a rare genetic condition that affects infants and is characterized by the early onset of diabetes. PNDM is caused by mutations in certain genes that are involved in the regulation of insulin production and…
The SLC22A12 gene is associated with a condition known as hypouricemia, which is characterized by low levels of urate in the body. This gene encodes for a carrier protein that plays a crucial role in the reabsorption of urate in…
Small fiber neuropathy (SFN) is a condition characterized by damage to the small nerve fibers that transmit pain and temperature signals from the skin to the brain. It can cause a range of symptoms including burning pain, tingling, and loss…
The PLOD1 gene is responsible for encoding the enzyme procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 (LH1), which plays a crucial role in the hydroxylation of lysyl residues in collagen. This gene is one of the rare genes associated with Ehlers-Danlos syndrome, a group…
Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) is a rare genetic condition that affects the myelin, a substance that surrounds and protects nerve fibers within the central nervous system. This condition is also called HBSL leukodystrophy.…