COG5-CDG is a rare genetic condition that results from changes or variants in the COG5 gene. It is listed in the OMIM catalog and Orphanet, providing valuable information for both medical professionals and individuals seeking more information about this disorder.…
Retinoblastoma is a rare type of cancer that occurs in the retina of the eye. It is the most common type of eye cancer in children, with an estimated frequency of 1 in every 15,000 live births. Retinoblastomas are typically…
Adenine Phosphoribosyltransferase (APRT) deficiency, also known as 28-dha deficiency, is a rare genetic disorder that affects the conversion of adenine to 28-dihydroxyladenine (28-dha) in the body. This condition is inherited in an autosomal recessive manner, meaning that a person must…
Kallmann syndrome is a rare genetic disorder that affects both men and women, resulting in a combination of hypogonadotropic hypogonadism and anosmia. This condition is characterized by a failure to start or complete puberty, leading to decreased levels of reproductive…
The GHRHR gene is responsible for producing the growth hormone-releasing hormone (GHRH), which plays a crucial role in regulating the release of growth hormone from the pituitary gland. Growth hormone is essential for normal growth and development, and its deficiency…
The PIG-O gene is a human gene that is listed in various genetic databases. It is associated with the PIGA-CDG syndrome, a rare genetic disorder. The PIG-O gene has been extensively studied and is documented in numerous scientific articles found…
The GLA gene is listed on Online Mendelian Inheritance in Man (OMIM) and is associated with Fabry disease. Fabry disease is a genetic disorder characterized by the accumulation of globotriaosylceramide (GL-3) in various tissues and organs. The GLA gene provides…
The GNS gene, also known as N-acetylglucosamine-6-sulfatase, is a large genetic gene that encodes for an enzyme involved in the breakdown and disposal of certain molecules in the body. The GNS gene is associated with a type of genetic condition…
The CLN8 gene is a genetic variant that is associated with an infantile form of ceroid lipofuscinosis, a group of rare neurodegenerative disorders characterized by the buildup of lipids in cells. The CLN8 gene is listed in various genetic databases…
Hyperlysinemia, also known as saccharopinuria, is a rare genetic condition caused by a deficiency of the enzyme lysine-ketoglutarate reductase. This condition is typically inherited in an autosomal recessive manner. Hyperlysinemia is characterized by elevated levels of the amino acid lysine…