Search
familial intrahepatic cholestasis 3
Epidemiology: rare
Genetics:
- autosomal recessive
- associated with mutation in the MDR3 gene
Clinical manifestations:
- early onset of cholestasis that progresses to cirrhosis & liver failure before adulthood
Laboratory:
- elevated serum gamma-glutamyltransferase levels
Related
P-glycoprotein 3 (PGY3, multidrug resistance protein 3, MDR3, ATP-binding cassette subfamily B member 4, ABC4)
General
familial intrahepatic cholestasis
Database Correlations
OMIM 602347
References
OMIM :accession 602347