KEGG   DISEASE: Inflammatory bowel disease (IBD)
Entry
H01227                      Disease                                
Name
Inflammatory bowel disease (IBD)
  Subgroup
Crohn's disease [DS:H00286]
Ulcerative colitis [DS:H01466]
Description
Inflammatory bowel disease (IBD) is a heterogeneous group of chronic disorders, which includes Crohn's disease and ulcerative colitis. Patients suffer chronically from abdominal pain, diarrhea, bleeding, and malabsorption. In most patients, these disorders are manifested in adolescence or adulthood, however, they may present in infancy and may be inherited as an autosomal recessive trait. It has been reported that mutations in genes encoding the IL10R subunit proteins were found in patients with early-onset enterocolitis, involving hyperinflammatory immune responses in the intestine. Additional genes associated with the disease have been identified.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Other immune system diseases
   H01227  Inflammatory bowel disease (IBD)
Human diseases in ICD-11 classification [BR:br08403]
 13 Diseases of the digestive system
  Inflammatory bowel diseases
   DD70  Crohn disease
    H01227  Inflammatory bowel disease (IBD)
   DD71  Ulcerative colitis
    H01227  Inflammatory bowel disease (IBD)
   DD72  Indeterminate colitis
    H01227  Inflammatory bowel disease (IBD)
Pathway
hsa05321  Inflammatory bowel disease
Related
pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04630  JAK-STAT signaling pathway
hsa04621  NOD-like receptor signaling pathway
Network
nt06518  JAK-STAT signaling
nt06521  NLR signaling
Gene
(IBD1) NOD2 [HSA:64127] [KO:K10165]
(IBD10) ATG16L1 [HSA:55054] [KO:K17890]
(IBD13) ABCB1 [HSA:5243] [KO:K05658]
(IBD14) IRF5 [HSA:3663] [KO:K09446]
(IBD17) IL23R [HSA:149233] [KO:K05065]
(IBD19) IRGM [HSA:345611] [KO:K14139]
(IBD25) IL10RB [HSA:3588] [KO:K05135]
(IBD28) IL10RA [HSA:3587] [KO:K05134]
(IBD29) INAVA [HSA:55765]
(IBD30) CARD8 [HSA:22900] [KO:K12801]
(IBD31) IL37 [HSA:27178] [KO:K05485]
IL10 [HSA:3586] [KO:K05443]
MST1 [HSA:4485] [KO:K23441]
Other DBs
ICD-11: DD70 DD71 DD72
MeSH: D015212
OMIM: 266600 611081 612241 612244 612245 612261 612278 612381 612567 613148 618077 619079 619398
Reference
  Authors
Abraham C, Cho JH
  Title
Inflammatory bowel disease.
  Journal
N Engl J Med 361:2066-78 (2009)
DOI:10.1056/NEJMra0804647
Reference
PMID:11385576 (NOD2)
  Authors
Hugot JP, Chamaillard M, Zouali H, Lesage S, Cezard JP, Belaiche J, Almer S, Tysk C, O'Morain CA, Gassull M, Binder V, Finkel Y, Cortot A, Modigliani R, Laurent-Puig P, Gower-Rousseau C, Macry J, Colombel JF, Sahbatou M, Thomas G
  Title
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.
  Journal
Nature 411:599-603 (2001)
DOI:10.1038/35079107
Reference
PMID:18852889 (ATG16L1)
  Authors
Kuballa P, Huett A, Rioux JD, Daly MJ, Xavier RJ
  Title
Impaired autophagy of an intracellular pathogen induced by a Crohn's disease associated ATG16L1 variant.
  Journal
PLoS One 3:e3391 (2008)
DOI:10.1371/journal.pone.0003391
Reference
PMID:14610718 (ABCB1)
  Authors
Brant SR, Panhuysen CI, Nicolae D, Reddy DM, Bonen DK, Karaliukas R, Zhang L, Swanson E, Datta LW, Moran T, Ravenhill G, Duerr RH, Achkar JP, Karban AS, Cho JH
  Title
MDR1 Ala893 polymorphism is associated with inflammatory bowel disease.
  Journal
Am J Hum Genet 73:1282-92 (2003)
DOI:10.1086/379927
Reference
PMID:17881657 (IRF5)
  Authors
Dideberg V, Kristjansdottir G, Milani L, Libioulle C, Sigurdsson S, Louis E, Wiman AC, Vermeire S, Rutgeerts P, Belaiche J, Franchimont D, Van Gossum A, Bours V, Syvanen AC
  Title
An insertion-deletion polymorphism in the interferon regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases.
  Journal
Hum Mol Genet 16:3008-16 (2007)
DOI:10.1093/hmg/ddm259
Reference
PMID:17068223 (IL23R)
  Authors
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
  Title
A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.
  Journal
Science 314:1461-3 (2006)
DOI:10.1126/science.1135245
Reference
PMID:21278745 (IRGM)
  Authors
Brest P, Lapaquette P, Souidi M, Lebrigand K, Cesaro A, Vouret-Craviari V, Mari B, Barbry P, Mosnier JF, Hebuterne X, Harel-Bellan A, Mograbi B, Darfeuille-Michaud A, Hofman P
  Title
A synonymous variant in IRGM alters a binding site for miR-196 and causes deregulation of IRGM-dependent xenophagy in Crohn's disease.
  Journal
Nat Genet 43:242-5 (2011)
DOI:10.1038/ng.762
Reference
PMID:19890111 (IL10RB IL10RA)
  Authors
Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schaffer AA, Noyan F, Perro M, Diestelhorst J, Allroth A, Murugan D, Hatscher N, Pfeifer D, Sykora KW, Sauer M, Kreipe H, Lacher M, Nustede R, Woellner C, Baumann U, Salzer U, Koletzko S, Shah N, Segal AW, Sauerbrey A, Buderus S, Snapper SB, Grimbacher B, Klein C
  Title
Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.
  Journal
N Engl J Med 361:2033-45 (2009)
DOI:10.1056/NEJMoa0907206
Reference
PMID:28436939 (INAVA)
  Authors
Yan J, Hedl M, Abraham C
  Title
An inflammatory bowel disease-risk variant in INAVA decreases pattern recognition receptor-induced outcomes.
  Journal
J Clin Invest 127:2192-2205 (2017)
DOI:10.1172/JCI86282
Reference
PMID:29408806 (CARD8)
  Authors
Mao L, Kitani A, Similuk M, Oler AJ, Albenberg L, Kelsen J, Aktay A, Quezado M, Yao M, Montgomery-Recht K, Fuss IJ, Strober W
  Title
Loss-of-function CARD8 mutation causes NLRP3 inflammasome activation and Crohn's disease.
  Journal
J Clin Invest 128:1793-1806 (2018)
DOI:10.1172/JCI98642
Reference
PMID:33674380 (IL37)
  Authors
Zhang ZZ, Zhang Y, He T, Sweeney CL, Baris S, Karakoc-Aydiner E, Yao Y, Ertem D, Matthews HF, Gonzaga-Jauregui C, Malech HL, Su HC, Ozen A, Smith KGC, Lenardo MJ
  Title
Homozygous IL37 mutation associated with infantile inflammatory bowel disease.
  Journal
Proc Natl Acad Sci U S A 118:e2009217118 (2021)
DOI:10.1073/pnas.2009217118
Reference
PMID:18836448 (IL10)
  Authors
Franke A, Balschun T, Karlsen TH, Sventoraityte J, Nikolaus S, Mayr G, Domingues FS, Albrecht M, Nothnagel M, Ellinghaus D, Sina C, Onnie CM, Weersma RK, Stokkers PC, Wijmenga C, Gazouli M, Strachan D, McArdle WL, Vermeire S, Rutgeerts P, Rosenstiel P, Krawczak M, Vatn MH, Mathew CG, Schreiber S
  Title
Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.
  Journal
Nat Genet 40:1319-23 (2008)
DOI:10.1038/ng.221
Reference
PMID:19079170 (MST1)
  Authors
Goyette P, Lefebvre C, Ng A, Brant SR, Cho JH, Duerr RH, Silverberg MS, Taylor KD, Latiano A, Aumais G, Deslandres C, Jobin G, Annese V, Daly MJ, Xavier RJ, Rioux JD
  Title
Gene-centric association mapping of chromosome 3p implicates MST1 in IBD pathogenesis.
  Journal
Mucosal Immunol 1:131-8 (2008)
DOI:10.1038/mi.2007.15
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