Progressive familial intrahepatic cholestasis type 1 (Q67674): Difference between revisions

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Latest revision as of 15:30, 14 August 2026

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.

Language	Label	Description	Also known as
default for all languages	ID_1414850183
English	Progressive familial intrahepatic cholestasis type 1	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.