Orphanet: Progressive familial intrahepatic cholestasis type 1

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Progressive familial intrahepatic cholestasis type 1

Disease definition

PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.


Classification level: Subtype of disorder
  • Synonym(s):
    • Byler disease
    • FIC1 deficiency
    • PFIC1
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: K76.8
  • OMIM: 211600
  • UMLS: -
  • MeSH: C535933
  • GARD: 9802
  • MedDRA: -

Detailed information


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