KEGG DISEASE: Celiac disease

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KEGG DISEASE: Celiac disease

KEGG

DISEASE: Celiac disease

Entry

H02123                      Disease

Name

Celiac disease

Description

Celiac disease is a chronic gluten intolerance that occurs in genetically predisposed individuals. The ingestion of gluten causes chronic inflammation of the small intestinal mucosa, leading to nutrient malabsorption. Susceptibility to celiac disease is strongly associated with particular HLA class II alleles. However, non-HLA genetic factors are likely to be required for the development of the disease. It has been reported that CTLA4 and MYO9B gene polymorphisms are associated with predisposition to celiac disease.

Category

Digestive system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
13 Diseases of the digestive system
  Diseases of small intestine
   DA95  Coeliac disease
    H02123  Celiac disease

Pathway

Cell adhesion molecules

Th17 cell differentiation

Th1 and Th2 cell differentiation

Antigen processing and presentation

Intestinal immune network for IgA production

Gene

(CELIAC1) HLA-DQA1 [HSA:3117] [KO:K06752]
(CELIAC1) HLA-DQB1 [HSA:3119] [KO:K06752]
(CELIAC3) CTLA4 [HSA:1493] [KO:K06538]
(CELIAC4) MYO9B [HSA:4650] [KO:K10360]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

212750 609755 609753

Reference

PMID:23050549 (CELIAC1)

Authors

Megiorni F, Pizzuti A

Title

HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing.

Journal

J Biomed Sci 19:88 (2012)
DOI:10.1186/1423-0127-19-88

Reference

PMID:10189842 (CELIAC3)

Authors

Djilali-Saiah I, Schmitz J, Harfouch-Hammoud E, Mougenot JF, Bach JF, Caillat-Zucman S

Title

CTLA-4 gene polymorphism is associated with predisposition to coeliac disease.

Journal

Gut 43:187-9 (1998)
DOI:10.1136/gut.43.2.187

Reference

PMID:16282976 (CELIAC4)

Authors

Monsuur AJ, de Bakker PI, Alizadeh BZ, Zhernakova A, Bevova MR, Strengman E, Franke L, van't Slot R, van Belzen MJ, Lavrijsen IC, Diosdado B, Daly MJ, Mulder CJ, Mearin ML, Meijer JW, Meijer GA, van Oort E, Wapenaar MC, Koeleman BP, Wijmenga C

Title

Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect.

Journal

Nat Genet 37:1341-4 (2005)
DOI:10.1038/ng1680

LinkDB

» Japanese version

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