Oculocutaneous albinism is a rare genetic condition that affects the pigmentation of the skin, hair, and eyes. It is characterized by a deficiency or absence of melanin, the pigment that gives color to these tissues. The condition is often associated…
Thrombocytopenia, a condition characterized by low platelet count, is one of the genetic conditions that affect blood clotting. It can lead to excessive bleeding and bruising and may be inherited or acquired. Dystonia-parkinsonism is another genetic condition that affects movement…
The ALDOB gene is involved in the metabolism of fructose-1-phosphate. Variants in this gene can cause hereditary fructose intolerance, a condition in which a person cannot break down fructose, leading to severe health problems. The ALDOB gene is listed on…
The ASL gene, also known as argininosuccinate lyase, is responsible for producing the enzyme argininosuccinate lyase. This enzyme is involved in the urea cycle, a metabolic pathway that converts toxic ammonia into urea. Changes in the ASL gene can lead…
The LMX1B gene is a variant gene that provides important information for understanding and diagnosing various conditions related to the nail-patella syndrome. It is one of the genes listed in public databases such as PubMed, where scientific articles and references…
Primary carnitine deficiency is a rare genetic condition associated with problems in the uptake and transport of carnitine, a protein that helps transport fatty acids into the mitochondria, the energy-producing centers of cells. This condition is caused by a defect…
The HOGA1 gene, also known as 4-hydroxy-2-oxoglutarate aldolase 1, plays a significant role in the development and progression of hyperoxaluria. Hyperoxaluria is a condition characterized by an excessive accumulation and excretion of oxalate in the urine, which can lead to…
The KRT10 gene is listed as a confetti resource in the PubMed article for ichthyosis and other related disorders. This gene is known to be associated with strong, intermediate, and hyperkeratosis conditions. It falls into the genetic network region of…
The HDAC4 gene, also known as Histone Deacetylases 4, is a gene that encodes a protein involved in the process of removing acetyl groups from histones, which are proteins that help package DNA into a compact structure in the cell…
Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder that affects the development of the limbs and skull. It is inherited in an autosomal dominant pattern, meaning that a person with a mutated gene has a 50% chance of passing…