KEGG   DISEASE: Mitchell-Riley 症候群
エントリ  
H01377                                                             
名称    
Mitchell-Riley 症候群
概要    
Mitchell-Riley syndrome is a neonatal diabetes syndrome that involves abnormalities of the anterior gut as well as diabetes. Patients with this syndrome are typically diagnosed within the first week of life and generally die within their first year of life. Mutations in rfx6 have been associated with Mitchell-Riley syndrome.
カテゴリ  
先天性代謝異常症
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 19 周産期に発生した病態
  胎児または新生児に特異的な一過性の内分泌または代謝疾患
   KB60  胎児または新生児に特異的な一過性糖質代謝疾患
    H01377  Mitchell-Riley 症候群
病因遺伝子 
RFX6 [HSA:222546] [KO:K19521]
リンク   
ICD-11: KB60.2Y
MeSH: C567570
OMIM: 615710
文献    
  著者
Concepcion JP, Reh CS, Daniels M, Liu X, Paz VP, Ye H, Highland HM, Hanis CL, Greeley SA
  タイトル
Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6.
  雑誌
Pediatr Diabetes 15:67-72 (2014)
DOI:10.1111/pedi.12063
文献    
  著者
Pearl EJ, Jarikji Z, Horb ME
  タイトル
Functional analysis of Rfx6 and mutant variants associated with neonatal diabetes.
  雑誌
Dev Biol 351:135-45 (2011)
DOI:10.1016/j.ydbio.2010.12.043
LinkDB    

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