KEGG   DISEASE: CAPOS 症候群
エントリ  
H02272                                                             
名称    
CAPOS 症候群
概要    
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome is a rare autosomal dominant neurological disorder. CAPOS is characterized by a relapsing, early onset cerebellar ataxia, associated with progressive optic atrophy and sensorineural deafness. An identical heterozygous missense mutation in ATP1A3 gene was found in CAPOS patients.
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
  多発性の発達異常または症候群
   LD20  主な特徴として中枢神経系の異常を伴う症候群
    H02272  CAPOS 症候群
病因遺伝子 
ATP1A3 [HSA:478] [KO:K01539]
リンク   
ICD-11: LD20.0Y
MeSH: C535351
OMIM: 601338
文献    
  著者
Demos MK, van Karnebeek CD, Ross CJ, Adam S, Shen Y, Zhan SH, Shyr C, Horvath G, Suri M, Fryer A, Jones SJ, Friedman JM
  タイトル
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
  雑誌
Orphanet J Rare Dis 9:15 (2014)
DOI:10.1186/1750-1172-9-15
文献    
PMID:8733056
  著者
Nicolaides P, Appleton RE, Fryer A
  タイトル
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome.
  雑誌
J Med Genet 33:419-21 (1996)
DOI:10.1136/jmg.33.5.419
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