KEGG   DISEASE: FRA12A 精神遅滞
エントリ  
H01306                                                             
名称    
FRA12A 精神遅滞
概要    
FRA12A mental retardation is a rare form of mental retardation caused by expansion of CGG repeat. This repeat is in the 5' untranslated region of the gene DIP2B. It has been suggested that deficiency of DIP2B, a brain-expressed gene, may mediate the neurocognitive problems associated with FRA12A.
カテゴリ  
精神及び行動の障害
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 06 精神, 行動, 神経発達の障害
  神経発達症
   6A00  知的発達症
    H01306  FRA12A 精神遅滞
病因遺伝子 
DIP2B [HSA:57609] [KO:K24908]
リンク   
ICD-11: 6A00
MeSH: C566980
OMIM: 136630
文献    
  著者
Winnepenninckx B, Debacker K, Ramsay J, Smeets D, Smits A, FitzPatrick DR, Kooy RF
  タイトル
CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1.
  雑誌
Am J Hum Genet 80:221-31 (2007)
DOI:10.1086/510800
文献    
  著者
Kumari D, Usdin K
  タイトル
Chromatin remodeling in the noncoding repeat expansion diseases.
  雑誌
J Biol Chem 284:7413-7 (2009)
DOI:10.1074/jbc.R800026200
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