Glutathione synthetase deficiency is a rare genetic condition that affects the production of glutathione, a powerful antioxidant in the body. This condition is caused by mutations in the GSS gene, which provides instructions for making the enzyme glutathione synthetase. Glutathione…
Congenital cataracts facial dysmorphism and neuropathy is a rare condition that is associated with a number of genetic abnormalities. It is characterized by the presence of cataracts at birth, which can cause severe vision impairment. Facial dysmorphism, or abnormal facial…
The RMRP gene, also known as RNA component of mitochondrial RNA processing endoribonuclease, is an important gene involved in the regulation of cell growth and development. It is listed in various databases and is known by different names in each…
Robinow syndrome is a rare genetic condition that affects the development of the skeleton and other parts of the body. It is characterized by distinct facial features, short stature, and abnormalities in the bones of the spine and limbs. The…
The ERAP1 gene, also known as ERAAP (endoplasmic reticulum aminopeptidase 1), is a gene that encodes a protein involved in the processing of peptides that are presented on major histocompatibility complex class I molecules. This gene is located on chromosome…
The TH gene, also known as the tyrosine hydroxylase gene, is a genetic variant that is commonly found in humans. It is related to the production of the enzyme tyrosine hydroxylase, which plays a crucial role in the synthesis of…
The KCNJ5 gene is a genetic variant that is associated with aldosterone-producing adenoma, a condition characterized by increased production of the hormone aldosterone, leading to hypertension and related conditions. This gene, also known by other names such as Kir34 and…
Tetrasomy 18p is a rare genetic disorder caused by the presence of four copies of the short arm of chromosome 18. It has a frequency of less than 1 in 100,000 live births, making it even more uncommon than Trisomy…
The MYO5A gene is a certain gene that is located within the complex of genes related to myosin-Va, a myosin protein involved in intracellular transport. This gene is listed in the catalog of pastural conditions and diseases, as it has…
Chorea-acanthocytosis is a rare genetic disorder that causes impaired muscle control and abnormal red blood cells. It is also known as chorein deficiency syndrome and is associated with the CHAC gene. The condition is characterized by frequent and involuntary movements…