digenic disorders
Last reviewed 01/2018
In digenic disorders two genes interact to produce a disease phenotype.
Often the main mode of inheritance is simple Mendelian with another gene modulating the severity of the disease. A good example is the variability of cystic fibrosis in patients with the same deletion mutation at position 508 in the CFTR gene.
The first true digenic disease may be some forms of limb-girdle muscular dystrophy.