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familial intrahepatic cholestasis 1; Byler disease (PFC1)
Epidemiology: rare
Genetics:
- autosomal recessive
- caused by a mutation in the ATP8B1 gene
Clinical manifestations:
1) early onset of loose, foul-smelling stools
2) attacks of jaundice possibly related to infection
3) hepatosplenomegaly
4) dwarfism
5) 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
General
familial intrahepatic cholestasis
Database Correlations
OMIM 211600
References
OMIM :accession 211600