KEGG   DISEASE: S 錐体増強症候群
エントリ  
H02075                                                             
名称    
S 錐体増強症候群
  上位グループ
硝子体網膜変性 [DS:H00805]
概要    
Enhanced S-cone syndrome (ESCS) is a rare autosomal recessive retinal dystrophy that results in an increased function of the short wavelength-sensitive (S) cones. It is characterized by night blindness, cystoid maculopathy and degenerative changes of the vascular arcades. Mutations in the NR2E3 gene, which encodes a photoreceptor cell-specific nuclear receptor, cause 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
  眼球後極部の疾患
   網膜の疾患
    9B70  遺伝性網膜ジストロフィ
     H02075  S 錐体増強症候群
病因遺伝子 
NR2E3 [HSA:10002] [KO:K08546]
リンク   
ICD-11: 9B70
MeSH: C564835
OMIM: 268100
文献    
  著者
Bernal S, Solans T, Gamundi MJ, Hernan I, de Jorge L, Carballo M, Navarro R, Tizzano E, Ayuso C, Baiget M
  タイトル
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.
  雑誌
Clin Genet 73:360-6 (2008)
DOI:10.1111/j.1399-0004.2008.00963.x
文献    
  著者
Nakamura Y, Hayashi T, Kozaki K, Kubo A, Omoto S, Watanabe A, Toda K, Takeuchi T, Gekka T, Kitahara K
  タイトル
Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X).
  雑誌
Acta Ophthalmol Scand 82:616-22 (2004)
DOI:10.1111/j.1600-0420.2004.00328.x
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