KEGG   DISEASE: 言語遅延、運動異常、発作を伴う神経発達障害
エントリ  
H03027                      Disease                                
名称    
言語遅延、運動異常、発作を伴う神経発達障害
概要    
Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures (NEDSMS) is caused by UNC13A mutations that lead to increased short-term synaptic depression during, and reduced augmentation after, high-frequency action potential trains.
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
   H03027  言語遅延、運動異常、発作を伴う神経発達障害
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセスes
  nt06541  神経細胞の細胞骨格
   H03027  言語遅延、運動異常、発作を伴う神経発達障害
ネットワーク
nt06541 Cytoskeleton in neurons
病因遺伝子 
UNC13A [HSA:23025] [KO:K15293]
リンク   
ICD-11: LD90.Y
OMIM: 621456
文献    
  著者
Lipstein N, Verhoeven-Duif NM, Michelassi FE, Calloway N, van Hasselt PM, Pienkowska K, van Haaften G, van Haelst MM, van Empelen R, Cuppen I, van Teeseling HC, Evelein AM, Vorstman JA, Thoms S, Jahn O, Duran KJ, Monroe GR, Ryan TA, Taschenberger H, Dittman JS, Rhee JS, Visser G, Jans JJ, Brose N
  タイトル
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.
  雑誌
J Clin Invest 127:1005-1018 (2017)
DOI:10.1172/JCI90259
文献    
  著者
Asadollahi R, Ahmad A, Boonsawat P, Shahanoor Hinzen J, Lohse M, Bouazza-Arostegui B, Sun S, Utesch T, Sommer JD, Ilic D, Padmanarayana M, Fischermanns K, Ranjan M, Boll M, Ka C, Piton A, Mattioli F, Isidor B, Ounap K, Reinson K, Wojcik MH, Marshall CR, Mercimek-Andrews S, Matsumoto N, Miyake N, Stephan BO, Honjo RS, Bertola DR, Kim CA, Yusupov R, Mefford HC, Christodoulou J, Lee J, Heath O, Brown NJ, Baker N, Stark Z, Delatycki M, Lake NJ, Zeidler S, Zuurbier L, Maas SM, de Kruiff CC, Rajabi F, Rodan LH, Coury SA, Platzer K, Oppermann H, Abou Jamra R, Beblo S, Maxton C, Smigiel R, Underhill H, Dubbs H, Rosen A, Helbig KL, Helbig I, Ruggiero SM, Fitzgerald MP, Kraemer D, Prada CE, Tenney J, Jayakar P, Redon S, Lefranc J, Uguen K, Race S, Efthymiou S, Maroofian R, Houlden H, Coppens S, Deconinck N, Ashokkumar B, Varalakshmi P, Gowda K VR, Eghbal F, Ghayoor Karimiani E, Heidari M, Neidhardt J, Owczarek-Lipska M, Korenke GC, Bamshad MJ, Campeau PM, Lehman A, Hendon LG, Wentzensen IM, Monaghan KG, Chen Y, Szuto A, Cohn RD, Au PYB, Hubner C, Boschann F, Manickam K, Koboldt DC, Rad A, Oprea G, Bachman KK, Seeley AH, Agolini E, Terracciano A, Carmelo P, Bupp C, Grysko B, Rein-Rothschild A, Ben Zeev B, Margolin A, Morrison J, Dagli A, Stolerman E, Louie RJ, Washington C, Stevens SJC, Heijligers M, Alkuraya FS, Lisfeld J, Neu A, Paoli Monteiro F, Santos Pessoa AL, Camelo-Filho AE, Kok F, Koeberl D, Riley K, Burglen L, Doummar D, Heron B, Mignot C, Keren B, Charles P, Nava C, Bernhard FP, Kuhn AA, Thoms S, Morrie RD, Mekhoubad S, Green EM, Barmada SJ, Gitler AD, Jahn O, Rhee JS, Rosenmund C, Mitkovski M, Sticht H, Sun H, Le Gac G, Taschenberger H, Brose N, Dittman JS, Rauch A, Lipstein N
  タイトル
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
  雑誌
Nat Genet 57:2691-2704 (2025)
DOI:10.1038/s41588-025-02361-5
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