KEGG   DISEASE: 言語行動異常を伴う全般的発達遅滞
エントリ  
H02784                                                             
名称    
言語行動異常を伴う全般的発達遅滞
概要    
Global developmental delay with speech and behavioral abnormalities (GDSBA) is a rare genetic disorder characterized by developmental delay/intellectual disability and a spectrum of neurobehavioral phenotypes including autism and ADHD. It has been reported that mutations in TNRC6B cause this disease. TNRC6B encodes a protein important for RNA silencing.
カテゴリ  
精神及び行動の障害
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 06 精神, 行動, 神経発達の障害
  神経発達症
   6A00  知的発達症
    H02784  言語行動異常を伴う全般的発達遅滞
病因遺伝子 
TNRC6B [HSA:23112] [KO:K18412]
リンク   
ICD-11: 6A00
OMIM: 619243
文献    
  著者
Eising E, Carrion-Castillo A, Vino A, Strand EA, Jakielski KJ, Scerri TS, Hildebrand MS, Webster R, Ma A, Mazoyer B, Francks C, Bahlo M, Scheffer IE, Morgan AT, Shriberg LD, Fisher SE
  タイトル
A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.
  雑誌
Mol Psychiatry 24:1065-1078 (2019)
DOI:10.1038/s41380-018-0020-x
文献    
  著者
Granadillo JL, P A Stegmann A, Guo H, Xia K, Angle B, Bontempo K, Ranells JD, Newkirk P, Costin C, Viront J, Stumpel CT, Sinnema M, Panis B, Pfundt R, Krapels IPC, Klaassens M, Nicolai J, Li J, Jiang Y, Marco E, Canton A, Latronico AC, Montenegro L, Leheup B, Bonnet C, M Amudhavalli S, Lawson CE, McWalter K, Telegrafi A, Pearson R, Kvarnung M, Wang X, Bi W, Rosenfeld JA, Shinawi M
  タイトル
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural  phenotypes including autism and ADHD.
  雑誌
J Med Genet 57:717-724 (2020)
DOI:10.1136/jmedgenet-2019-106470
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