| H01213 | |
| H number | H01213 |
| Name | Gallbladder disease |
| 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 |
| Network | - |
| Gene | (GBD1) ABCB4 [HSA:5244] [KO:K05659] (GBD4) ABCG8 [HSA:64241] [KO:K05684] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Chenodiol [DR:D00163] |
| Comment | - |
| Other DBs | ICD-11: DC11 DC12 ICD-10: K80 K81.9 MeSH: D005705 OMIM: 600803 611465 |
| Reference | PMID:15696852 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 PMID:20594224 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 PMID:17562004 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 PMID:19803550 AUTHORS Gaby AR TITLE Nutritional approaches to prevention and treatment of gallstones. JOURNAL Altern Med Rev 14:258-67 (2009) |