KEGG   DISEASE: Schinzel-Giedion 症候群
エントリ  
H00922                                                             
名称    
Schinzel-Giedion 症候群
概要    
Schinzel-Giedion midface retraction syndrome is a rare congenital disorder characterized by severe mental retardation, midface retraction, cardiac and urogenital malformations, skeletal malformations, and neuroepithelial neoplasia. The disorder is lethal and respiratory failure is the major cause of death.
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
   LD27  主な特徴として皮膚または粘膜の異常を伴う症候群
    H00922  Schinzel-Giedion 症候群
病因遺伝子 
SETBP1 [HSA:26040] [KO:K23217]
リンク   
ICD-11: LD27.0Y
MeSH: C536632
OMIM: 269150
文献    
  著者
Lehman AM, McFadden D, Pugash D, Sangha K, Gibson WT, Patel MS
  タイトル
Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria.
  雑誌
Am J Med Genet A 146A:1299-306 (2008)
DOI:10.1002/ajmg.a.32277
文献    
  著者
Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M, de Vries P, de Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim MZ, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BB, Veltman JA
  タイトル
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
  雑誌
Nat Genet 42:483-5 (2010)
DOI:10.1038/ng.581
文献    
PMID:8160760
  著者
Labrune P, Lyonnet S, Zupan V, Imbert MC, Goutieres F, Hubert P, Le Merrer M
  タイトル
Three new cases of the Schinzel-Giedion syndrome and review of the literature.
  雑誌
Am J Med Genet 50:90-3 (1994)
DOI:10.1002/ajmg.1320500120
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