KEGG   DISEASE: Crohn disease
H00286                      Disease                                
Crohn disease
Inflammatory bowel disease (IBD) [DS:H01227]
Crohn 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 polymorphisms 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 disease
Human diseases in ICD-11 classification [BR:br08403]
 13 Diseases of the digestive system
  Inflammatory bowel diseases
   DD70  Crohn disease
    H00286  Crohn disease
hsa04621  NOD-like receptor signaling pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04630  JAK-STAT signaling pathway
hsa05321  Inflammatory bowel disease
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]
Mycobacterium avium subsp. paratuberculosis [GN:mao]
Escherichia coli (AIEC) [GN:eln elu elf]
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]
Risankizumab [DR:D11052]
The polymorphysm in the TNFSF15 gene contribute to the susceptibility to Crohn's disease in the Japanese.
Other DBs
ICD-11: DD70
ICD-10: K50
MeSH: D003424
OMIM: 266600 612261 611081 612567 613148 612278
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)
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)
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)
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)
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)
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)
Abraham C, Cho JH
Inflammatory bowel disease.
N Engl J Med 361:2066-78 (2009)

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