Orphanet: Progressive familial intrahepatic cholestasis type 3

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Progressive familial intrahepatic cholestasis type 3

Disease definition

Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.


Classification level: Subtype of disorder
  • Synonym(s):
    • PFIC3
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: K76.8
  • OMIM: 602347
  • UMLS: C1865643
  • MeSH: C535935
  • GARD: 1289
  • MedDRA: -

Detailed information


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