16p11.2 microdeletion syndrome is a genetic condition that is characterized by the deletion of a small section of chromosome 16 at position 11.2. This microdeletion is associated with a range of developmental and physical abnormalities in affected individuals. The condition…
Cryptogenic cirrhosis is a type of liver disease that is characterized by scarring of the liver without a known cause. It is a rare condition, with the frequency of cryptogenic cirrhosis being lower than that of other liver diseases such…
Chromosomes are thread-like structures in the nucleus of our cells that contain genetic information in the form of DNA. Normally, humans have 23 pairs of chromosomes, for a total of 46 chromosomes. However, sometimes changes in the number of chromosomes…
Incontinentia pigmenti is a rare genetic condition that affects the development and pigmentation of the skin, teeth, hair, and nails. It is also known as Bloch-Sulzberger syndrome, after the doctors who first described it. Incontinentia pigmenti is caused by mutations…
The SAA1 gene is a gene that is associated with various conditions, including Mediterranean fever (MEFV). It is listed in the ClinVar catalog and has references of related articles and changes in its versions and polymorphisms on PubMed. When searching…
Cold-induced sweating syndrome, also known as crisponicold-induced sweating syndrome, is a rare genetic condition that affects individuals with excessive sweating in response to cold temperatures. It is caused by mutations in the gene called CLCF1, which is part of the…
The NR0B1 gene, also known as the DAX-1 gene, is an important gene that plays a role in various genetic disorders and conditions. It is located on the X chromosome in the Xp21 region. The gene encodes a protein called…
The MTM1 gene, also known as myotubularin 1, is a genetic health gene that plays a crucial role in the development and function of muscle cells. Mutations in this gene are associated with a condition called X-linked myotubular myopathy (XLMTM),…
Familial focal epilepsy with variable foci (FFEVF) is a rare form of epilepsy that is characterized by seizures that begin in specific areas of the brain called foci. It is an inherited condition, with mutations in certain genes associated with…
Achondrogenesis is a rare genetic disorder that affects the development of the skeleton. It is one of the smallest types of skeletal dysplasia, caused by mutations in the genes associated with collagen, a connective tissue protein. There are three main…