KEGG   DISEASE: Wilson-Turner 症候群
エントリ  
H02267                                                             
名称    
Wilson-Turner 症候群
概要    
Wilson-Turner syndrome (WTS) is an X-linked syndrome characterized by mental retardation, obesity, facial features, speech impairment, variable behavioral problems, gynecomastia, hypogonadism, and tapering fingers. WTS is caused by mutations in LAS1L, that plays a role in ribosome biogenesis.
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
   LD29  主な特徴として肥満を伴う症候群
    H02267  Wilson-Turner 症候群
病因遺伝子 
LAS1L [HSA:81887] [KO:K16912]
リンク   
ICD-11: LD29
ICD-10: Q87.8
OMIM: 309585
文献    
PMID:1746601
  著者
Wilson M, Mulley J, Gedeon A, Robinson H, Turner G
  タイトル
New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255.
  雑誌
Am J Med Genet 40:406-13 (1991)
DOI:10.1002/ajmg.1320400405
文献    
  著者
Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bommel A, Goke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Muller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bielenska A, Ousager LB, Wieacker P, Rodriguez Criado G, Bondeson ML, Anneren G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM
  タイトル
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
  雑誌
Mol Psychiatry 21:133-48 (2016)
DOI:10.1038/mp.2014.193
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