KEGG   DISEASE: Alkuraya-Kucinskas 症候群
エントリ  
H02494                                                             
名称    
Alkuraya-Kucinskas 症候群
概要    
Alkuraya-Kucinskas syndrome is an autosomal recessive syndrome characterized by brain atrophy with clubfoot and arthrogryposis. It has been reported that mutations in ALKKUCS are associated with this syndrome. ALKKUCS is required for synaptic vesicle recycling.
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
  主に1つの体系に影響する構造的発達異常
   神経系の構造的発達異常
    LA0Y  その他の明示された神経系の構造的発達異常
     H02494  Alkuraya-Kucinskas 症候群
病因遺伝子 
ALKKUCS [HSA:84162] [KO:K24964]
リンク   
ICD-11: LA0Y
OMIM: 617822
文献    
  著者
Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E, Monroe GR, Lai A, Putoux A, Allias F, Ambusaidi Q, Ambrozaityte L, Cimbalistiene L, Delafontaine J, Guex N, Hashem M, Kurdi W, Jamuar SS, Ying LJ, Bonnard C, Pippucci T, Pradervand S, Roechert B, van Hasselt PM, Wiederkehr M, Wright CF, Xenarios I, van Haaften G, Shaw-Smith C, Schindewolf EM, Neerman-Arbez M, Sanlaville D, Lesca G, Guibaud L, Reversade B, Chelly J, Kucinskas V, Alkuraya FS, Reymond A
  タイトル
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
  雑誌
Am J Hum Genet 102:116-132 (2018)
DOI:10.1016/j.ajhg.2017.12.002
文献    
  著者
Verstreken P, Ohyama T, Haueter C, Habets RL, Lin YQ, Swan LE, Ly CV, Venken KJ, De Camilli P, Bellen HJ
  タイトル
Tweek, an evolutionarily conserved protein, is required for synaptic vesicle recycling.
  雑誌
Neuron 63:203-15 (2009)
DOI:10.1016/j.neuron.2009.06.017
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