Catalog

Progressive familial intrahepatic cholestasis type 1

No MMS code

Link to WHO Definition

Progressive familial intrahepatic cholestasis type 1 – http://id.who.int/icd/entity/1414850183

Progressive familial intrahepatic cholestasis type1 (PFIC1), a type of progressive familial intrahepatic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features. it is characterised by cholestasis leading to end-stage liver disease before adulthood. Extrahepatic features include persistent short stature, watery diarrhea, pancreatitis and sensorineural deafness.