Progressive familial intrahepatic cholestasis type 1 (Q67674)
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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 |
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| 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. |
