Congenital nephrotic syndrome (CNS) is a rare genetic condition that affects the kidneys. It is characterized by the excessive excretion of protein in the urine, leading to fluid retention and swelling in various parts of the body, particularly the face,…
The CFTR (cystic fibrosis transmembrane conductance regulator) gene is also known by other names such as ABCC7 and ATP-binding cassette sub-family C member 7. It is primarily found in the epithelial cells of various tissues, including the sweat glands, airways,…
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 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…
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…
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…
STXBP1 encephalopathy, also known as STXBP1-epilepsy, is a rare neurodevelopmental condition associated with mutations in the STXBP1 gene. The condition is characterized by early onset of epileptic seizures, intellectual disability, and neurodevelopmental delay. It was first described in 2008 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 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…
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…