Cystic Fibrosis

Cystic fibrosis (CF) is caused by the presence of two severe pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on opposite chromosomes. Over 2,000 different CFTR variants have been reported, but most are very rare and of unknown significance. CF is typically associated with recurrent pulmonary infections, exocrine pancreatic insufficiency, and congenital bilateral absence of the vas deferens (CBAVD). Inheritance of less significant variants may result in a milder phenotype and less severe disease or CFTR-related disorders (CFTR-RD).

Tabs Content
Content Review: 
May 2017

Last Update: October 2018