Holocarboxylase synthetase deficiency is a rare genetic condition caused by mutations in the gene that codes for the enzyme holocarboxylase synthetase. This enzyme is responsible for attaching a biotin molecule to certain proteins in the body, allowing them to function…
The PDE6B gene is a part of the retinitis pigmentosa disease, which is a group of genetic diseases that cause changes in the functioning of the photoreceptor cells in the retina. Retinitis pigmentosa is characterized by night blindness and progressive…
Otospondylomegaepiphyseal dysplasia is a rare genetic condition characterized by abnormalities in the bones and tissues of the body. It is named after the Greek words “otos” (ear), “spondylos” (vertebrae), “mega” (large), and “epiphysis” (end of bone), reflecting the areas most…
Osteoglophonic dysplasia is a rare genetic condition characterized by skeletal abnormalities, dwarfism, and facial features such as a prominent forehead and a depressed nasal bridge. It is also associated with intellectual disability and hearing loss in some cases. The condition…
The UMOD gene, also known as uromodulin-associated kidney disease gene, is a gene that is associated with various kidney-related health conditions and diseases. This gene is responsible for producing a protein called uromodulin, which is primarily found in the kidneys.…
Metachromatic leukodystrophy (MLD) is a rare genetic disorder that affects the myelin sheath, a protective covering of nerve fibers in the nervous system. It is an autosomal recessive condition, meaning that it occurs when an individual inherits two faulty copies…
The PHOX2A gene is a homeodomain gene that plays a critical role in the development and formation of nerves, muscles, and other structures in the body. Mutations in this gene have been found to be associated with various congenital disorders…
Arginineglycine amidinotransferase deficiency, also known as AGAT deficiency, is a rare autosomal recessive genetic condition caused by a deficiency in the enzyme arginineglycine amidinotransferase. This deficiency leads to delayed synthesis of creatine, an important amino acid that plays a crucial…
Uromodulin-associated kidney disease, also known as UMOD nephropathy or familial juvenile hyperuricemic nephropathy (FJHN), is a rare genetic condition that affects the kidneys. It is caused by mutations in the UMOD gene, which leads to a buildup of the protein…
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) disease is a rare genetic disorder that affects the nervous and gastrointestinal systems. It is caused by mutations in the TYMP gene, which leads to a deficiency in the enzyme thymidine phosphorylase. This enzyme is responsible…