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
Gene
(IBD1) NOD2 (polymorphism) [HSA:64127] [KO:K10165]
(IBD10) ATG16L1 (polymorphism) [HSA:55054] [KO:K17890]
(IBD13) ABCB1 (polymorphism) [HSA:5243] [KO:K05658]
(IBD14) IRF5 (polymorphism) [HSA:3663] [KO:K09446]
(IBD17) IL23R (polymorphism) [HSA:149233] [KO:K05065]
(IBD19) IRGM (polymorphism) [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]
IL10 (polymorphism) [HSA:3586] [KO:K05443]
MST1 (polymorphism) [HSA:4485] [KO:K23441]
Other DBs
ICD-11: DD70 DD71 DD72
MeSH: D015212
OMIM: 266600 611081 612241 612244 612245 612261 612278 612567 613148 618077 619079
Reference
  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
  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
  Authors
Glocker EO, Kotlarz D, Klein C, Shah N, Grimbacher B
  Title
IL-10 and IL-10 receptor defects in humans.
  Journal
Ann N Y Acad Sci 1246:102-7 (2011)
DOI:10.1111/j.1749-6632.2011.06339.x
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:26339135 (drug)
  Authors
de Mattos BR, Garcia MP, Nogueira JB, Paiatto LN, Albuquerque CG, Souza CL, Fernandes LG, Tamashiro WM, Simioni PU
  Title
Inflammatory Bowel Disease: An Overview of Immune Mechanisms and Biological Treatments.
  Journal
Mediators Inflamm 2015:493012 (2015)
DOI:10.1155/2015/493012
Reference
PMID:26600980 (drug)
  Authors
Akiho H, Yokoyama A, Abe S, Nakazono Y, Murakami M, Otsuka Y, Fukawa K, Esaki M, Niina Y, Ogino H
  Title
Promising biological therapies for ulcerative colitis: A review of the literature.
  Journal
World J Gastrointest Pathophysiol 6:219-27 (2015)
DOI:10.4291/wjgp.v6.i4.219
Reference
PMID:26284562 (drug)
  Authors
Danese S, Vuitton L, Peyrin-Biroulet L
  Title
Biologic agents for IBD: practical insights.
  Journal
Nat Rev Gastroenterol Hepatol 12:537-45 (2015)
DOI:10.1038/nrgastro.2015.135
Reference
  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
  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

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