KEGG   DISEASE: カーンズ・セイアー症候群
エントリ  
H01355                      Disease                                
名称    
カーンズ・セイアー症候群
  上位グループ
ミトコンドリア病 [DS:H01427]
概要    
Kearns-Sayre Syndrome is a multisystem disorder characterized by ophthalmoplegia, pigmentary retinopathy, heart block, and cerebellar ataxia. This disease is caused by various large-scale deletions of mitochondrial DNA.
カテゴリ  
先天性代謝異常症
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
   9C82  外眼筋の疾患
    H01355  カーンズ・セイアー症候群
パスウェイ 
hsa00190  Oxidative phosphorylation
hsa04723  Retrograde endocannabinoid signaling
hsa04260  Cardiac muscle contraction
病因遺伝子 
MT-ATP6 [HSA:4508] [KO:K02126]
MT-ATP8 [HSA:4509] [KO:K02125]
MT-CO3 [HSA:4514] [KO:K02262]
MT-CYB [HSA:4519] [KO:K00412]
MT-ND3 [HSA:4537] [KO:K03880]
MT-ND4 [HSA:4538] [KO:K03881]
MT-ND4L [HSA:4539] [KO:K03882]
MT-ND5 [HSA:4540] [KO:K03883]
MT-ND6 [HSA:4541] [KO:K03884]
リンク   
ICD-11: 9C82.0
MeSH: D007625
OMIM: 530000
文献    
  著者
Obara-Moszynska M, Maceluch J, Bobkowski W, Baszko A, Jaremba O, Krawczynski MR, Niedziela M
  タイトル
A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment.
  雑誌
BMC Pediatr 13:27 (2013)
DOI:10.1186/1471-2431-13-27
文献    
PMID:9727847
  著者
Boles RG, Roe T, Senadheera D, Mahnovski V, Wong LJ
  タイトル
Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease.
  雑誌
Eur J Pediatr 157:643-7 (1998)
DOI:10.1007/s004310050902
LinkDB    

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