KEGG   DISEASE: セリアック病
エントリ  
H02123                                                             
名称    
セリアック病
概要    
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.
カテゴリ  
消化器系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 13 消化器系の疾患
  小腸の疾患
   DA95  小児脂肪便症
    H02123  セリアック病
パスウェイ 
hsa04514  Cell adhesion molecules
hsa04659  Th17 cell differentiation
hsa04658  Th1 and Th2 cell differentiation
hsa04612  Antigen processing and presentation
hsa04672  Intestinal immune network for IgA production
病因遺伝子 
(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]
リンク   
ICD-11: DA95
MeSH: D002446
OMIM: 212750 609755 609753
文献    
PMID:23050549 (CELIAC1)
  著者
Megiorni F, Pizzuti A
  タイトル
HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing.
  雑誌
J Biomed Sci 19:88 (2012)
DOI:10.1186/1423-0127-19-88
文献    
PMID:10189842 (CELIAC3)
  著者
Djilali-Saiah I, Schmitz J, Harfouch-Hammoud E, Mougenot JF, Bach JF, Caillat-Zucman S
  タイトル
CTLA-4 gene polymorphism is associated with predisposition to coeliac disease.
  雑誌
Gut 43:187-9 (1998)
DOI:10.1136/gut.43.2.187
文献    
PMID:16282976 (CELIAC4)
  著者
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
  タイトル
Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect.
  雑誌
Nat Genet 37:1341-4 (2005)
DOI:10.1038/ng1680
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