Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic condition that affects the development and function of many parts of the body. It is caused by mutations in the DHCR7 gene. This gene provides instructions for making an enzyme that is involved…
Mosaic variegated aneuploidy syndrome (MVAS) is a rare genetic condition characterized by abnormal chromosome sorting and the presence of aneuploid cells in various tissues. MVAS can cause a variety of clinical features, including growth retardation, intellectual disability, microcephaly (a smaller…
The Oculofaciocardiodental syndrome (OFCD) is a rare genetic condition that affects multiple body systems. It is also known as Radiculomegaly syndrome, Cardiodental syndrome, or Mohr syndrome. OFCD is characterized by the presence of several abnormalities, including defects in the eyes,…
The AGXT gene, also known as alanine-glyoxylate aminotransferase gene, is an essential gene responsible for the synthesis of the alanine-glyoxylate aminotransferase enzyme. This enzyme plays a crucial role in the metabolism of glyoxylate, an intermediate in the metabolism of glyoxylate,…
Pseudohypoaldosteronism type 1 is a rare genetic condition that causes a loss of functioning in certain specialized cells in the skin, blood, and other tissues. This condition is associated with high levels of potassium in the blood, which can cause…
COL5A2 gene The COL5A2 gene provides instructions for making a protein called alpha-2 chain of type V collagen. This protein is found in connective tissues throughout the body, including skin, bone, tendon, and blood vessels. Type V collagen is a…
PAFAH1B1 gene The PAFAH1B1 gene, also known as LIS1, is a genetic sequence that plays an important role in the development and function of the human brain. Mutations or changes in this gene can cause a variety of neurological conditions,…
The DOK7 gene is a genetic variation that has been identified as being related to congenital myasthenic syndrome. This scientific finding has important implications for understanding and diagnosing this rare disease. The DOK7 gene is listed in several genetic databases…
Genetic testing refers to a variety of tests that can be done to analyze a person’s DNA and identify any abnormalities or mutations in their genes. These tests can be used for a range of different purposes and have the…
The NCF2 gene, also known as NADPH oxidase 2, plays a crucial role in the immune system’s response to infection and disease. It is responsible for encoding a protein called p67-phox, which is a vital component of the NADPH oxidase…