KEGG   DISEASE: Bosch-Boonstra 視神経萎縮症候群
エントリ  
H01378                                                             
名称    
Bosch-Boonstra 視神経萎縮症候群
概要    
Bosch-Boonstra optic atrophy syndrome is an autosomal dominant disorder characterized by mild to moderate intellectual impairment and optic atrophy. Heterozygous mutations in the NR2F1 gene have been associated with this disease.
カテゴリ  
神経系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 09 視覚系の疾患
  視覚路または中枢の疾患
   9C40  視神経の疾患
    H01378  Bosch-Boonstra 視神経萎縮症候群
病因遺伝子 
NR2F1 [HSA:7025] [KO:K08547]
リンク   
ICD-11: 9C40.B0
OMIM: 615722
文献    
PMID:24462372
  著者
Bosch DG, Boonstra FN, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE, Spruijt L, Blokland EA, Chen CA, Lewis RA, Tsai SY, Gibbs RA, Tsai MJ, Lupski JR, Zoghbi HY, Cremers FP, de Vries BB, Schaaf CP
  タイトル
NR2F1 mutations cause optic atrophy with intellectual disability.
  雑誌
Am J Hum Genet 94:303-9 (2014)
DOI:10.1016/j.ajhg.2014.01.002
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