familial intrahepatic cholestasis 1; Byler disease (PFC1)

Epidemiology

rare

Genetics

• autosomal recessive
• caused by a mutation in the ATP8B1 gene

Clinical manifestations

• early onset of loose, foul-smelling stools
• attacks of jaundice possibly related to infection
• hepatosplenomegaly
• dwarfism
• early infancy cholestasis
  • may be initially episodic but progresses to
    • malnutrition
    • growth retardation
    • end-stage liver disease before adulthood

Management

(prognosis)

• death in the first decade of life

More general terms

• familial intrahepatic cholestasis

Database

• OMIM: https://mirror.omim.org/entry/211600