KEGG   DISEASE: オキヒロ症候群
エントリ  
H00634                                                             
名称    
オキヒロ症候群;
Duane-radial ray 症候群
概要    
Duane-radial ray syndrome alias Okihiro syndrome is an autosomal dominant condition characterized by an association of Duane retraction syndrome (eye retraction) with radial malformations of the upper extremities and deafness. Mutations in the transcription factor SALL4 are the cause of the disorder.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD2F  多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
    H00634  オキヒロ症候群
病因遺伝子 
SALL4 [HSA:57167] [KO:K19871]
コメント  
For Duane retraction syndrome, see H00633.
リンク   
ICD-11: LD2F.1Y
MeSH: D004370
OMIM: 607323
文献    
  著者
Yuksel D, Orban de Xivry JJ, Lefevre P
  タイトル
Review of the major findings about Duane retraction syndrome (DRS) leading to an updated form of classification.
  雑誌
Vision Res 50:2334-47 (2010)
DOI:10.1016/j.visres.2010.08.019
文献    
  著者
Al-Baradie R, Yamada K, St Hilaire C, Chan WM, Andrews C, McIntosh N, Nakano M, Martonyi EJ, Raymond WR, Okumura S, Okihiro MM, Engle EC
  タイトル
Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.
  雑誌
Am J Hum Genet 71:1195-9 (2002)
DOI:10.1086/343821
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