KEGG   DISEASE: H01213Help
Entry
H01213                      Disease                                

Name
Gallbladder disease;
Cholecystitis;
Cholelithiasis
Description
Gallbladder disease is one of the most common digestive disorders. Cholecystitis is an inflammation of the gallbladder wall, that is almost always associated with cholelithiasis, or gallstones. Cholecystitis and cholelithiasis appear to be caused by the actions of several genes and environment working together. It has been reported that an ABCB4 mutation which causes a deficiency in biliary phosphatidylcholine secretion is associated with gallstones. Recently, several common DNA polymorphisms in the ABCG8 gene were discovered that are associated with gallstone disease.
Category
Digestive disease
BRITE hierarchy
Pathway
ABC transporters
Fat digestion and absorption
Bile secretion
Gene
ABCB4 [HSA:5244] [KO:K05659]
ABCG8 [HSA:64241] [KO:K05684]
Drug
Cholecystectomy
Ursodeoxycholic acid [DR:D00734]
Chenodeoxycholic acid [DR:D00163]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
vanBerge-Henegouwen GP, Venneman NG, Portincasa P, Kosters A, van Erpecum KJ, Groen AK
  Title
Relevance of hereditary defects in lipid transport proteins for the pathogenesis  of cholesterol gallstone disease.
  Journal
Scand J Gastroenterol Suppl 60-9 (2004)
Reference
  Authors
Siddapuram SP, Mahurkar S, Duvvuru NR, Mitnala S, Guduru VR, Rebala P, Mansard MJ
  Title
Hepatic cholesterol transporter ABCG8 polymorphisms in gallstone disease in an Indian population.
  Journal
J Gastroenterol Hepatol 25:1093-8 (2010)
Reference
  Authors
Rosmorduc O, Poupon R
  Title
Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene.
  Journal
Orphanet J Rare Dis 2:29 (2007)
Reference
  Authors
Gaby AR
  Title
Nutritional approaches to prevention and treatment of gallstones.
  Journal
Altern Med Rev 14:258-67 (2009)

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