KEGG   DISEASE: H01227Help
Entry
H01227                      Disease                                

Name
Inflammatory bowel disease
Description
Inflammatory bowel disease 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.
Category
Immune system disease
BRITE hierarchy
Pathway
Cytokine-cytokine receptor interaction
Jak-STAT signaling pathway
hsa05321 (64127) Inflammatory bowel disease  
 
Gene
IL10RB [HSA:3588] [KO:K05135]
IL10RA [HSA:3587] [KO:K05134]
Marker
Ulcerative colitisis: Superficial inflammation of the colonic mucosa, beginning in the rectum and extending proximally
Comment
Crohn's disease is described in H00286. [DS:H00286]
Other DBs
MeSH: 
OMIM: 
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)
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)
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)

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