KEGG   DISEASE: 無眼瞼・巨口症症候群
エントリ  
H01932                                                             
名称    
無眼瞼・巨口症症候群
概要    
Ablepharon-macrostomia syndrome (AMS) is a rare autosomal dominant condition characterized by absent eyelids, absent eyebrows and eyelashes, macrostomia, and external ear abnormalities. It has been reported that AMS is due to mutations in TWIST2.
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
    H01932  無眼瞼・巨口症症候群
病因遺伝子 
TWIST2 [HSA:117581] [KO:K09069]
リンク   
ICD-11: LD2F.1Y
MeSH: C535557
OMIM: 200110
文献    
  著者
Brancati F, Mingarelli R, Sarkozy A, Dallapiccola B
  タイトル
Ablepharon-macrostomia syndrome in a 46-year-old woman.
  雑誌
Am J Med Genet A 127A:96-8 (2004)
DOI:10.1002/ajmg.a.20658
文献    
  著者
Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC
  タイトル
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
  雑誌
Am J Hum Genet 97:99-110 (2015)
DOI:10.1016/j.ajhg.2015.05.017
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