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…
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 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…
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),…
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…
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…
Protein S deficiency is a rare genetic condition associated with altered genes that affect the clotting proteins in the bloodstream. This condition can lead to severe clotting disorders, such as thrombosis, purpura, and other related diseases. Protein S deficiency is…
The RAB3GAP2 gene, also known as RAB18 non-catalytic protein, is a key player in the regulation of intracellular transport and membrane fusion. This gene is found on chromosome 1 and codes for a protein that acts as a GTPase-activating protein…
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…
The MEOX1 gene, also known as the mesenchyme homeobox 1 gene, is a gene that plays a crucial role in the development of various tissues in the body. It is located on chromosome 17q21.32 and is involved in embryonic development.…