KEGG   DISEASE: Robinow-Sorauf 症候群
エントリ  
H02949                                                             
名称    
Robinow-Sorauf 症候群
概要    
Robinow-Sorauf syndrome is an autosomal dominant syndrome characterized by craniosynostosis and duplication of the hallux. It has been reported that mutations in TWIST1 cause this syndrome. TWIST1 encodes a basic helix-loop-helix motif shared by several DNA-binding transcription factors.
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
   LD24  主な特徴として骨格の異常を伴う症候群
    H02949  Robinow-Sorauf 症候群
病因遺伝子 
TWIST1 [HSA:7291] [KO:K09069]
リンク   
ICD-11: LD24.GY
MeSH: C537183
OMIM: 180750
文献    
  著者
Cai J, Shoo BA, Sorauf T, Jabs EW
  タイトル
A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome.
  雑誌
Clin Genet 64:79-82 (2003)
DOI:10.1034/j.1399-0004.2003.00098.x
文献    
  著者
Kunz J, Hudler M, Fritz B
  タイトル
Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome.
  雑誌
J Med Genet 36:650-2 (1999)
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