KEGG   DISEASE: 先天性眼振
エントリ  
H00776                                                             
名称    
先天性眼振
概要    
Nystagmus is an eye movement disorder in which one or both eyes are in constant movement. Nystagmus that occurs independent of these known ocular or systemic diseases is referred to as congenital motor nystagmus (CMN) or idiopathic congenital nystagmus (ICN). It can be inherited as an autosomal dominant, an autosomal recessive, or an X-linked trait. At least six genetic loci for CMN have been suggested, including three loci for autosomal dominant CMN, and three loci for X-linked CMN. A variety of mutations in the FRMD7 gene have been identified in many families with an X-linked recessive pattern. Another mutation associated with X-linked CMN is GPR143.
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
  斜視または眼球運動障害
   9C84  眼振
    H00776  先天性眼振
病因遺伝子 
(NYS1) FRMD7 [HSA:90167] [KO:K23971]
(NYS6) GPR143 [HSA:4935] [KO:K08470]
(NYS8) ROBO1 [HSA:6091] [KO:K06753]
リンク   
ICD-11: 9C84.1
MeSH: C580539
OMIM: 310700 300814 257400
文献    
  著者
Xiao X, Li S, Guo X, Zhang Q
  タイトル
A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692.
  雑誌
Hum Genet 131:697-702 (2012)
DOI:10.1007/s00439-011-1113-7
文献    
PMID:17397053 (NYS1)
  著者
Schorderet DF, Tiab L, Gaillard MC, Lorenz B, Klainguti G, Kerrison JB, Traboulsi EI, Munier FL
  タイトル
Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.
  雑誌
Hum Mutat 28:525 (2007)
DOI:10.1002/humu.9492
文献    
PMID:21423867 (NYS6)
  著者
Hu J, Liang D, Xue J, Liu J, Wu L
  タイトル
A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus.
  雑誌
Mol Vis 17:715-22 (2011)
文献    
PMID:35348658 (NYS8)
  著者
Huang Y, Ma M, Mao X, Pehlivan D, Kanca O, Un-Candan F, Shu L, Akay G, Mitani T, Lu S, Candan S, Wang H, Xiao B, Lupski JR, Bellen HJ
  タイトル
Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms.
  雑誌
Hum Mol Genet 31:2751-2765 (2022)
DOI:10.1093/hmg/ddac070
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