| H01227 | |
| H number | H01227 |
| Name | Inflammatory bowel disease (IBD) |
| 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 DIS_PATHWAY hsa05321 Inflammatory bowel disease |
| Network | nt06518(H01227) JAK-STAT signaling nt06521(H01227) 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] [KO:K26459] (IBD30) CARD8 [HSA:22900] [KO:K12801] (IBD31) IL37 [HSA:27178] [KO:K05485] IL10 [HSA:3586] [KO:K05443] MST1 [HSA:4485] [KO:K23441] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: DD70 DD71 DD72 MeSH: D015212 OMIM: 266600 611081 612241 612244 612245 612261 612278 612381 612567 613148 618077 619079 619398 |
| Reference | PMID:19923578 AUTHORS Abraham C, Cho JH TITLE Inflammatory bowel disease. JOURNAL N Engl J Med 361:2066-78 (2009) DOI:10.1056/NEJMra0804647 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 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 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 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 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 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 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 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 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 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 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 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 |