The CYLD gene is a central gene for the growths related to tumors. It is responsible for a condition called cutaneous cylindromas, which is a rare genetic syndrome. In addition to cutaneous cylindromas, people with mutations in the CYLD gene…
The Precision Medicine Initiative is a large research program, which aims to revolutionize medicine and improve health by providing more precise information about individual patients and their specific health conditions. This initiative was launched by the National Institutes of Health…
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…
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…
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…
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…
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.…
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…
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…
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…