KEGG   DISEASE: EDICT 症候群
エントリ  
H02426                                                             
名称    
EDICT 症候群
概要    
EDICT syndrome is an autosomal dominant syndrome characterized by endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning. It has been reported that a single-base substitution in the seed region of miR-184 causes EDICT syndrome.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 09 視覚系の疾患
  前眼部の疾患
   角膜の疾患
    9A78  明示された角膜の疾患
     H02426  EDICT 症候群
病因遺伝子 
MIR184 [HSA:406960] [KO:K17177]
リンク   
ICD-11: 9A78.5Y
ICD-10: Q15.8
OMIM: 614303
文献    
  著者
Hughes AE, Dash DP, Jackson AJ, Frazer DG, Silvestri G
  タイトル
Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes.
  雑誌
Invest Ophthalmol Vis Sci 44:5063-6 (2003)
DOI:10.1167/iovs.03-0399
文献    
  著者
Iliff BW, Riazuddin SA, Gottsch JD
  タイトル
A single-base substitution in the seed region of miR-184 causes EDICT syndrome.
  雑誌
Invest Ophthalmol Vis Sci 53:348-53 (2012)
DOI:10.1167/iovs.11-8783
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