familial intrahepatic cholestasis 4 (PFIC4)

Epidemiology

rare

Genetics

• autosomal recessive
• associated with mutation in the HSD3B7 gene

Clinical manifestations

• presents in infancy with intermittent jaundice & cholestasis
• progresses to end-stage liver disease & death in childhood

More general terms

• familial intrahepatic cholestasis

Additional terms

• familial intrahepatic cholestasis 4 (PFIC4)

Database

• OMIM: https://mirror.omim.org/entry/607765