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

More general terms

• familial intrahepatic cholestasis

Additional terms

• P-glycoprotein 3 (PGY3, multidrug resistance protein 3, MDR3, ATP-binding cassette subfamily B member 4, ABC4)

Database

• OMIM: https://mirror.omim.org/entry/602347