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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
Related
familial intrahepatic cholestasis 4 (PFIC4)
General
familial intrahepatic cholestasis
Database Correlations
OMIM 607765
References
OMIM :accession 607765