KEGG   DISEASE: Schaaf-Yang 症候群
エントリ  
H02325                                                             
名称    
Schaaf-Yang 症候群
  上位グループ
プラダー・ウィリー症候群 [DS:H00478]
概要    
Schaaf-Yang syndrome is a Prader-Willi-like disease [DS:H00478], manifesting developmental delay, intellectual disability, hypotonia, feeding difficulties, and autism spectrum disorder. It has been reported that truncating mutations in MAGEL2, which is located in the Prader-Willi critical region 15q11-13, cause this disease.
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
  LD90  関連する臨床的特徴として知的発達障害を伴う病状
   H02325  Schaaf-Yang 症候群
病因遺伝子 
MAGEL2 [HSA:54551] [KO:K23950]
リンク   
ICD-11: LD90.Y
OMIM: 615547
文献    
PMID:24076603
  著者
Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y
  タイトル
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
  雑誌
Nat Genet 45:1405-8 (2013)
DOI:10.1038/ng.2776
文献    
PMID:27195816
  著者
Fountain MD, Aten E, Cho MT, Juusola J, Walkiewicz MA, Ray JW, Xia F, Yang Y, Graham BH, Bacino CA, Potocki L, van Haeringen A, Ruivenkamp CA, Mancias P, Northrup H, Kukolich MK, Weiss MM, van Ravenswaaij-Arts CM, Mathijssen IB, Levesque S, Meeks N, Rosenfeld JA, Lemke D, Hamosh A, Lewis SK, Race S, Stewart LL, Hay B, Lewis AM, Guerreiro RL, Bras JT, Martins MP, Derksen-Lubsen G, Peeters E, Stumpel C, Stegmann S, Bok LA, Santen GW, Schaaf CP
  タイトル
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
  雑誌
Genet Med 19:45-52 (2017)
DOI:10.1038/gim.2016.53
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