KEGG   DISEASE: Gallbladder diseaseHelp
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 system disease
Brite
Human diseases [BR:br08402]
 Digestive system diseases
  Liver diseases
   H01213  Gallbladder disease
Human diseases in ICD-10 classification [BR:br08403]
 11. Diseases of the digestive system (K00-K93)
  K80-K87  Disorders of gallbladder, biliary tract and pancreas
   K80  Cholelithiasis
    H01213  Gallbladder disease
   K81  Cholecystitis
    H01213  Gallbladder disease
BRITE hierarchy
Pathway
hsa02010  ABC transporters
hsa04975  Fat digestion and absorption
hsa04976  Bile secretion
Gene
ABCB4 [HSA:5244] [KO:K05659]
ABCG8 [HSA:64241] [KO:K05684]
Drug
Chenodiol [DR:D00163]
Other DBs
ICD-10: K80 K81.9
MeSH: D005705
OMIM: 600803 611465
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)
DOI:10.1080/00855920410011022
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)
DOI:10.1111/j.1440-1746.2010.06309.x
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)
DOI:10.1186/1750-1172-2-29
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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