Myofibrillar myopathy is a genetic condition characterized by the weakness of the muscles. It is more commonly known as a neuromuscular disorder that affects the myofibrils – the complex structures within muscle fibers that provide strength and function to the…
Episodic ataxia is a rare neurological condition that affects a person’s ability to coordinate movements. It is caused by genetic alterations in certain genes, including KCNA1 and CACNA1A. These genes play a role in the function of ion channels in…
The FGF23 gene is involved in regulating the metabolism of phosphate in the body. It is primarily expressed in tissues such as the kidneys, where it plays a crucial role in maintaining phosphate balance. Mutations in the FGF23 gene can…
Familial male-limited precocious puberty, also known as testotoxicosis, is a rare genetic disorder that affects males. It is characterized by the early onset of puberty in boys, often before the age of 9. This condition is caused by mutations in…
Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) is a rare genetic condition that affects the enzyme responsible for breaking down very long-chain fatty acids. This deficiency can lead to a variety of symptoms and complications, including muscle weakness and fatigue, low…
The ITPKC gene, also known as Inositol-trisphosphate 3-kinase C, is one of the genes listed in the OMIM catalog. It plays a crucial role in the regulation of calcium signaling in cells. Mutations in the ITPKC gene have been found…
The PYCR1 gene is involved in the production of the pyrroline-5-carboxylate reductase 1 enzyme, which plays a crucial role in various cellular processes. Mutations in this gene have been linked to different genetic conditions, including Autosomal Recessive Cutis Laxa Type…
Adenosine deaminase 2 (ADA2) deficiency is a rare genetic condition associated with a pro-inflammatory vasculopathy and affecting multiple tissues. It is also known by other names such as DADA2 (Deficiency of ADA2), and deficiency of ADA2 (DOA2). This condition is…
The COL17A1 gene, also known as collagen alpha-1(XVII) chain, is a genet involved in the formation of structures such as collagen and the epidermolysis. It is associated with various genetic conditions and diseases, including generalized atrophic benign epidermolysis bullosa. Mutations…
ALG1-congenital disorder of glycosylation (ALG1-CDG) is a rare genetic condition that affects the production of proteins and fats in the body. It is one of a group of diseases known as congenital disorders of glycosylation (CDG), which are inherited conditions…