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GENATLAS PHENOTYPE
last update : 28-06-2014
Symbol PFIC3
Location 7q21.1
Name cholestasis progressive familial intrahepatic 3
Other name(s) MDR3 deficiency
Corresponding gene ABCB4
Main clinical features
  • recurrent bouts of jaundice with severe icterus, diarrhea, fever, and pruritus, hepatosplenomegaly, elevated serum liver enzymes, increased gamma-glutamyltransferase
  • with high serum gamma glutamyltransferase activity
  • liver biopsy showed nonspecific portal inflammation, extensive portal fibrosis, and cirrhosis
    • Genetic determination autosomal recessive
    Related entries including cholestasis of pregnancy in heterozygous mothers (OMIM 147480 )
    Function/system disorder digestive tract/liver and annex
    Type disease
    Gene product
    Name P glycoprotein 3 (ABCB4)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   truncated protein in the functinal domain , impairing floppase activity
    Remark(s)