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Progressive familial intrahepatic cholestasis type 2

Disease definition

Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.


Classification level: Subtype of disorder
  • Synonym(s):
    • BSEP deficiency
    • PFIC2
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: K76.8
  • OMIM: 601847  615878
  • UMLS: C1866138  C3489789
  • MeSH: C535934
  • GARD: 1288
  • MedDRA: -

Detailed information


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