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References OMIM Gene GeneReviews HGMD HGNC
last update : 21-03-2018
Symbol PFIC5
Location 12q23.1
Name cholestasis, progressive familial intrahepatic, 5
Corresponding gene NR1H4
Main clinical features
  • severe liver disorder characterized by onset of intralobular cholestasis in the neonatal period; the disease is rapidly progressive, leading to liver failure and death
  • associated with abnormal liver enzymes, low to normal gamma-glutamyl transferase (GGT) activity, increased alpha-fetoprotein, and a vitamin K-independent coagulopathy
  • Genetic determination autosomal recessive
    Function/system disorder digestive tract/liver and annex
    Type disease