Category Genetics

The FANCA gene is one of the core genes in the Fanconi anemia (FA) pathway, which is involved in the repair of DNA damage. Mutations in this gene are known to cause Fanconi anemia, a rare genetic disorder that is…

The TCOF1 gene, also known as treacle, is a gene associated with Treacher Collins syndrome (TCS), a genetic disorder that affects the development of facial bones and tissues. TCS is characterized by a variety of craniofacial abnormalities, including coloboma of…

Spondylothoracic dysostosis is a rare condition characterized by abnormalities of the spine (spondylocostal dysostosis) and ribs (spondylothoracic dysostosis). According to OMIM, there have been only a few reported cases of this condition in the scientific literature. Articles in PubMed, supported…

Essential thrombocythemia (ET) is a rare clinical condition characterized by the presence of an excess of platelets in the blood. It is also known as primary thrombocythemia or essential thrombocytosis. The increased platelet count in ET is not secondary to…

Walker-Warburg syndrome is a rare, inherited muscular condition that causes a range of anomalies in affected individuals. It is also referred to as “congenital muscular dystrophy with structural brain abnormalities” and “Fukuyama-type congenital muscular dystrophy”. The frequency of this syndrome…

The TTR gene, also known as transthyretin, is a scientific term used to describe a specific genetic variant that has been linked to various amyloid diseases. Amyloid diseases are a group of disorders characterized by the buildup of abnormal proteins…

The TINF2 gene is a genetic factor that plays a critical role in the biology of telomeres. Telomeres are the protective caps on the ends of chromosomes that help maintain the stability and integrity of the genome. Mutations in the…

Chediak-Higashi syndrome is a rare genetic condition associated with abnormalities in the trafficking of cellular organelles. It is characterized by a variety of clinical features, such as partial albinism, recurrent infections, and neurological abnormalities. The syndrome is caused by mutations…

Sialuria is a rare genetic disorder that affects the central nervous system. It is characterized by a deficiency of the enzyme sialurialase, which leads to the accumulation of sialic acid in the body. This condition is inherited in an autosomal…

Beta-ureidopropionase deficiency is a genetic condition that is caused by mutations in the UPB1 gene. This gene provides instructions for making the beta-ureidopropionase enzyme, which plays a key role in the breakdown of certain molecules called pyrimidines. Pyrimidines are building…