KEGG DISEASE: Celiac disease (2024)

H02123Disease


Celiac disease

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.

Digestive system disease

Human diseases in ICD-11 classification [BR:br08403]
13 Diseases of the digestive system
Diseases of small intestine
DA95Coeliac disease
H02123Celiac disease

(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]

Megiorni F, Pizzuti A

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

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

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

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

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