KEGG   DISEASE: Crohn's diseaseHelp
H00286                      Disease                                

Crohn's disease
Inflammatory bowel disease (IBD) [DS:H01227]
Crohn's disease is a chronic, relapsing inflammatory bowel disease characterized by granulomatous inflammation, primarily localized to the terminal ileum. Most patients have involvement of the small intestine, but the other area of gastrointestinal tract may also be affected. In Western populations, over 50% of patients possess NOD2 mutations. Evidence exists that the NOD2 polymorphysms impair NF-kappaB activation and cytokine secretion in response to its ligand. The pathogenesis of Crohn's disease is also attributed to intestinal bacteria that may initiate mucosal inflammation in genetically susceptible individuals. Additional genes associated with the disease are recently being identified.
Immune system disease
Human diseases [BR:br08402]
 Immune system diseases
  Other immune system diseases
   H00286  Crohn's disease
Human diseases in ICD-10 classification [BR:br08403]
 11. Diseases of the digestive system (K00-K93)
  K50-K52  Noninfective enteritis and colitis
   K50  Crohn's disease (regional enteritis)
    H00286  Crohn's disease
BRITE hierarchy
hsa04621 NOD-like receptor signaling pathway  
hsa04060 Cytokine-cytokine receptor interaction  
hsa04630 Jak-STAT signaling pathway  
hsa05321 Inflammatory bowel disease  
hsa04140 Regulation of autophagy  
NOD2 [HSA:64127] [KO:K10165]
SLC22A4 (polymorphism) [HSA:6583] [KO:K08202]
SLC22A5 (polymorphism) [HSA:6584] [KO:K08202]
TNFSF15 (polymorphism) [HSA:9966] [KO:K05478]
IL23R (polymorphism) [HSA:149233] [KO:K05065]
ATG16L1 (polymorphism) [HSA:55054] [KO:K17890]
IRGM (polymorphism) [HSA:345611] [KO:K14139]
IL10RB [HSA:3588] [KO:K05135]
IL10RA [HSA:3587] [KO:K05134]
Env factor
Infectious diseases
Food preferences
Mycobacterium avium subsp. [GN:mav mpa mao]
Escherichia coli (AIEC) [GN:eln elu]
Prednisolone sodium phosphate [DR:D00981]
Prednisone [DR:D00473]
Budesonide [DR:D00246]
Natalizumab [DR:D06886]
Vedolizumab [DR:D08083]
Infliximab [DR:D02598]
Adalimumab [DR:D02597]
Certolizumab pegol [DR:D03441]
Ustekinumab [DR:D09214]
The polymorphysm in the TNFSF15 gene contribute to the susceptibility to Crohn's disease in the Japanese.
Other DBs
PMID:11385577 (gene)
Ogura Y, Bonen DK, Inohara N, Nicolae DL, Chen FF, Ramos R, Britton H, Moran T, Karaliuskas R, Duerr RH, Achkar JP, Brant SR, Bayless TM, Kirschner BS, Hanauer SB, Nunez G, Cho JH
A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease.
Nature 411:603-6 (2001)
PMID:15107849 (gene)
Peltekova VD, Wintle RF, Rubin LA, Amos CI, Huang Q, Gu X, Newman B, Van Oene M, Cescon D, Greenberg G, Griffiths AM, St George-Hyslop PH, Siminovitch KA
Functional variants of OCTN cation transporter genes are associated with Crohn disease.
Nat Genet 36:471-5 (2004)
PMID:16221758 (gene)
Yamazaki K, McGovern D, Ragoussis J, Paolucci M, Butler H, Jewell D, Cardon L, Takazoe M, Tanaka T, Ichimori T, Saito S, Sekine A, Iida A, Takahashi A, Tsunoda T, Lathrop M, Nakamura Y
Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease.
Hum Mol Genet 14:3499-506 (2005)
PMID:17068223 (gene)
Duerr RH, Taylor KD, Brant SR, Rioux JD, Silverberg MS, Daly MJ, Steinhart AH, Abraham C, Regueiro M, Griffiths A, Dassopoulos T, Bitton A, Yang H, Targan S, Datta LW, Kistner EO, Schumm LP, Lee AT, Gregersen PK, Barmada MM, Rotter JI, Nicolae DL, Cho JH
A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.
Science 314:1461-3 (2006)
PMID:17200669 (gene)
Hampe J, Franke A, Rosenstiel P, Till A, Teuber M, Huse K, Albrecht M, Mayr G, De La Vega FM, Briggs J, Gunther S, Prescott NJ, Onnie CM, Hasler R, Sipos B, Folsch UR, Lengauer T, Platzer M, Mathew CG, Krawczak M, Schreiber S
A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1.
Nat Genet 39:207-11 (2007)
PMID:12843021 (env_factor)
Bull TJ, McMinn EJ, Sidi-Boumedine K, Skull A, Durkin D, Neild P, Rhodes G, Pickup R, Hermon-Taylor J
Detection and verification of Mycobacterium avium subsp. paratuberculosis in fresh ileocolonic mucosal biopsy specimens from individuals with and without Crohn's disease.
J Clin Microbiol 41:2915-23 (2003)
PMID:19923578 (drug)
Abraham C, Cho JH
Inflammatory bowel disease.
N Engl J Med 361:2066-78 (2009)

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