KEGG   DISEASE: 網膜や黄斑の変性を伴う視神経乳頭異常
エントリ  
H02231                                                             
名称    
網膜や黄斑の変性を伴う視神経乳頭異常
概要    
Optic disc anomalies with retinal and/or macular dystrophy (ODRMD) is an autosomal recessive ocular disorder. It has been reported that a homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation.
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
   眼, 眼瞼または涙器の構造的発達異常
    LA13  眼球後極部の構造的発達異常
     H02231  網膜や黄斑の変性を伴う視神経乳頭異常
病因遺伝子 
SIX6 [HSA:4990] [KO:K19473]
リンク   
ICD-11: LA13.8
MeSH: C567024
OMIM: 212550
文献    
  著者
Yariz KO, Sakalar YB, Jin X, Hertz J, Sener EF, Akay H, Ozbek MN, Farooq A, Goldberg J, Tekin M
  タイトル
A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation.
  雑誌
Clin Genet 87:192-5 (2015)
DOI:10.1111/cge.12374
文献    
  著者
Aldahmesh MA, Khan AO, Hijazi H, Alkuraya FS
  タイトル
Homozygous truncation of SIX6 causes complex microphthalmia in humans.
  雑誌
Clin Genet 84:198-9 (2013)
DOI:10.1111/cge.12046
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