KEGG   DISEASE: 色覚異常
エントリ  
H00976                                                             
名称    
色覚異常
  下位グループ
第一色盲
二色型色覚
異常三色型色覚
概要    
Colorblindness is the inability or decreased ability to perceive color differences. Dichromacy is a condition characterized by reduced dimension of color vision in which one of the three basic color mechanisms is absent or not functioning. Anomalous trichromacy is the milder form of color vision deficiency, with ability to discriminate between different colors in varying degrees but not normal. Dichromacy and anomalous trichromacy are subdivided into three types: protan, deutan, and tritan depending on the affected cone type. Protan and deutan types consist red-green defects. Inherited red-green color vision defects affect 8% of males. Tritan type defect leads to inherited blue-yellow defect that is fairly rare.
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
  視覚機能の障害
   9D44  色覚の障害
    H00976  色覚異常
病因遺伝子 
(CBP) OPN1LW [HSA:5956] [KO:K04251]
(CBD) OPN1MW [HSA:2652] [KO:K04251]
(CBT) OPN1SW [HSA:611] [KO:K04252]
リンク   
ICD-11: 9D44
MeSH: D003117
OMIM: 303700 303800 303900 190900
文献    
  著者
Simunovic MP
  タイトル
Colour vision deficiency.
  雑誌
Eye (Lond) 24:747-55 (2010)
DOI:10.1038/eye.2009.251
文献    
PMID:7511848
  著者
Tovee MJ
  タイトル
The molecular genetics and evolution of primate colour vision.
  雑誌
Trends Neurosci 17:30-7 (1994)
DOI:10.1016/0166-2236(94)90032-9
文献    
  著者
Bouman MA
  タイトル
The simple perfection of quantum correlation in human vision.
  雑誌
Prog Neurobiol 78:38-60 (2006)
DOI:10.1016/j.pneurobio.2005.11.006
文献    
PMID:12051694 (OPN1LW OPN1MW)
  著者
Ueyama H, Kuwayama S, Imai H, Tanabe S, Oda S, Nishida Y, Wada A, Shichida Y, Yamade S
  タイトル
Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies.
  雑誌
Biochem Biophys Res Commun 294:205-9 (2002)
DOI:10.1016/S0006-291X(02)00458-8
文献    
PMID:1531728 (OPN1SW)
  著者
Weitz CJ, Miyake Y, Shinzato K, Montag E, Zrenner E, Went LN, Nathans J
  タイトル
Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.
  雑誌
Am J Hum Genet 50:498-507 (1992)
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