Purine nucleoside phosphorylase deficiency is a rare genetic condition caused by a deficiency of the enzyme purine nucleoside phosphorylase. This enzyme is responsible for breaking down certain nucleosides, such as guanosine and deoxyguanosine, into their respective bases and ribose or…
Deafness-dystonia-optic neuronopathy syndrome, also known as Tranebjaerg syndrome, is a rare genetic condition that causes a combination of deafness, dystonia (uncontrolled muscle contractions), and optic neuronopathy (damage to the optic nerve). It is caused by mutations in the TIMM8A gene,…
SLC39A14 gene, also known as ZIP14, is a member of the SLC39A family of solute carriers. It codes for a transmembrane protein that is involved in the transport of zinc and other divalent metals across cellular membranes. This gene is…
The CDC73 gene, also known as the Cell Division Cycle 73 gene, is a gene that is important for the normal functioning of cells. It is located on chromosome 1 and is involved in the development and regulation of a…
The ATL1 gene, particularly the 3A variant, is a genetic condition associated with several nerve-related disorders, including spastic paraplegia. It plays a crucial role in the formation and regulation of cell tracts in the spinal cord and other parts of…
22q112 deletion syndrome, also known as DiGeorge syndrome, is a genetic condition associated with a small piece of chromosome 22 missing. It is characterized by a wide range of clinical signs and symptoms, including developmental delays, learning disabilities, and distinctive…
Cholangiocarcinoma, also known as biliary tract cancer, is a rare and aggressive form of cancer that occurs in the bile ducts. These ducts are responsible for carrying bile, a fluid that helps with digestion, from the liver to the small…
Aicardi-Goutières syndrome is a rare genetic condition that affects the central nervous system. It was first described by Jean Aicardi and Françoise Goutières in 1984. The syndrome is characterized by the presence of inflammation in the brain and spinal cord,…
The C9orf72 gene is a gene located on chromosome 9 that has been found to be associated with several conditions. It was first discovered in 2011 and since then has been the subject of extensive research and testing. The main…
The KRT86 gene plays a crucial role in the health of our hair. It is responsible for encoding a protein called keratin, which is an essential component of the hair shaft. Mutations in this gene can lead to various hair…