KEGG   DISEASE: Helsmoortel-van der Aa 症候群
エントリ  
H02365                                                             
名称    
Helsmoortel-van der Aa 症候群;
常染色体優性遺伝性精神遅滞 28
  上位グループ
常染色体優性遺伝性知的発達障害 [DS:H00773]
概要    
Helsmoortel-van der Aa syndrome (HVDAS) is an autism spectrum disorder (ASD), accompanied with intellectual disability and facial dysmorphisms. It has been reported that HVDAS is caused by mutations in ADNP, a transcription factor involved in the SWI/SNF remodeling complex.
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
   H02365  Helsmoortel-van der Aa 症候群
病因遺伝子 
ADNP [HSA:23394] [KO:K22591]
リンク   
ICD-11: LD90.Y
MeSH: C000730394
OMIM: 615873
文献    
PMID:24531329
  著者
Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Anneren G, Fichera M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N
  タイトル
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
  雑誌
Nat Genet 46:380-4 (2014)
DOI:10.1038/ng.2899
文献    
PMID:25057125
  著者
Pescosolido MF, Schwede M, Johnson Harrison A, Schmidt M, Gamsiz ED, Chen WS, Donahue JP, Shur N, Jerskey BA, Phornphutkul C, Morrow EM
  タイトル
Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein.
  雑誌
J Med Genet 51:587-9 (2014)
DOI:10.1136/jmedgenet-2014-102444
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