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Progressive familial intrahepatic cholestasis

ORPHA:172· ICD-10 K76.8

Definition

Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.

Prevalence
Unknown
Inheritance
Autosomal recessive
Age of onset
Adolescent, Childhood, Infancy, Neonatal