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…
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…
Moyamoya disease is a rare, progressive cerebrovascular disorder characterized by the narrowing of the vessels in the brain. It was first identified in Japan, where it is more prevalent, but cases have been reported worldwide. The exact cause of the…
The SOS1 gene is listed in the Online Mendelian Inheritance in Man (OMIM) database and is associated with a variety of genetic conditions, including Noonan syndrome and other related disorders. This gene plays a crucial role in cell growth and…
The SAR1B gene is located within the endoplasmic reticulum (ER) and is responsible for the production of proteins involved in the generation of chylomicrons. Chylomicrons are large lipoprotein particles that transport dietary fat from the intestine to other tissues in…
The PMP22 gene, also known as the peripheral myelin protein 22 gene, is an important gene involved in the growth and function of peripheral nerves. It is located on chromosome 17, and mutations or duplications in this gene can lead…
Neutral lipid storage disease with myopathy is a rare genetic condition characterized by the abnormal accumulation of lipids (fats) in various tissues and organs. It is associated with mutations in the PNPLA2 gene. This gene provides instructions for producing an…
Smith-Magenis Syndrome (SMS) is a rare genetic condition associated with deletions or mutations in the RAI1 gene. It was first described in the medical literature in 1982 by Drs. Ann C.M. Smith and Robert J. Magenis. The syndrome is named…
The WDR45 gene, also known as the WD repeat domain 45 gene, is a protein-associated gene that plays a role in brain development and function. Mutations in this gene can lead to various neurodegenerative conditions. The WDR45 gene is listed…
Pulmonary alveolar microlithiasis is a rare genetic condition characterized by the presence of microliths in the alveoli, tiny air sacs in the lungs. It is a relatively unknown disease due to its low frequency, with only about 1,000 cases reported…