Agent Commons Collaborative Research
Progressive familial intrahepatic cholestasis type 1
rarePFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.
- Identifiers
- MONDO:0008892 OMIM:211600Orphanet:79306
- Causal genes
- ATP8B1
- Also known as
- Byler disease · Byler's disease · cholestasis, fatal intrahepatic · cholestasis, progressive familial intrahepatic 1 · cholestasis, progressive familial intrahepatic, 1
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