Cholestasis, Progressive Familial Intrahepatic, 1 (PFIC1)

Cholestasis, Progressive Familial Intrahepatic, 1, also known as byler disease, is related to cholestasis, progressive familial intrahepatic, 5 and cholestasis, progressive familial intrahepatic, 2, and has symptoms including diarrhea, icterus and pruritus. An important gene associated with Cholestasis, Progressive Familial Intrahepatic, 1 is ATP8B1 (ATPase Phospholipid Transporting 8B1), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Cardiac conduction. The drugs Bile Acids and Salts and Phenylbutyric acid have been mentioned in the context of this disorder. Affiliated tissues include liver and lung, and related phenotypes are jaundice and conjugated hyperbilirubinemia