Progressive familial intrahepatic cholestasis type 1

Definition

PFIC1, 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.

Also known as Byler disease, cholestasis, progressive familial intrahepatic 1, cholestasis, progressive familial intrahepatic, type 1, FIC1 deficiency, PFIC1 — per MONDO

Also identified as

• DOID 0070226 per MONDO
• OMIM 211600 per MONDO
• Orphanet 79306 per MONDO
• UMLS C4551898 per MONDO