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References OMIM Gene GeneReviews HGMD HGNC
last update : 28-06-2014
Symbol LPAC
Location 7q21.12
Name low phospholipid-associated cholelithiasis
Other name(s) gallbladder disease-1
Corresponding gene ABCB4
Other symbol(s) GBD1
Main clinical features
  • specific form of gallbladder disease characterized by young-adult onset of chronic cholestasis with intrahepatic sludge and cholesterol cholelithiasis
  • recurrence of the disorder after cholecystectomy and favorable response to treatment with ursodeoxycholic acid
  • Genetic determination multigenic
    Function/system disorder digestive tract/liver and annex
    Type disease
  • mutations are able to reduce the efflux of phosphatidylcholine associated with increase of Cholesterol, thereby promoting the formation of toxic bile (PMID: 24046840))