KEGG   DISEASE: 精神運動発達遅滞を伴う小児発症舞踏病
エントリ  
H02367                                                             
名称    
精神運動発達遅滞を伴う小児発症舞踏病
概要    
Chorea, childhood-onset, with psychomotor retardation (COCPMR) is a familial developmental disorder characterized by chorea, marked speech delay, and learning difficulties. Mutations in GPR88 are associated with COCPMR.
カテゴリ  
神経系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 08 神経系の疾患
  運動障害
   8A01  舞踏病様障害
    H02367  精神運動発達遅滞を伴う小児発症舞踏病
病因遺伝子 
GPR88 [HSA:54112] [KO:K08422]
リンク   
ICD-11: 8A01.Y
MeSH: D002819
OMIM: 616939
文献    
PMID:27123486
  著者
Alkufri F, Shaag A, Abu-Libdeh B, Elpeleg O
  タイトル
Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities.
  雑誌
Neurol Genet 2:e64 (2016)
DOI:10.1212/NXG.0000000000000064
文献    
PMID:23064379
  著者
Quintana A, Sanz E, Wang W, Storey GP, Guler AD, Wanat MJ, Roller BA, La Torre A, Amieux PS, McKnight GS, Bamford NS, Palmiter RD
  タイトル
Lack of GPR88 enhances medium spiny neuron activity and alters motor- and cue-dependent behaviors.
  雑誌
Nat Neurosci 15:1547-55 (2012)
DOI:10.1038/nn.3239
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