Tyrosinemia is a metabolic genetic disease. There are many types according to the mutated genes. Tyrosinemia type 1 is caused by the mutation of FAH gene on chromosome 15, which leads to dysfunction of fumaryl acetoacetate hydrolase.
Oculocutaneous albinism type 1 is a genetic disease that affect coloring (pigmentation) of the skin, hair, and eyes. These conditions are caused by mutations in the TYR gene on chromosome 11.
Bardet-Biedl syndrome (BBS) is mostly caused by mutations in BBS-related genes. There are at least 26 different types of Bardet-Biedl syndrome, which can be distinguished by their signs and symptoms and genetic cause.
Alpha-1 antitrypsin deficiency (A1ATD) is a hereditary endocrine disease. It caused by the mutation of SERPINA1 gene on chromosome 14, resulting in abnormal or low production of α1-antitrypsin (AAT).
