KEGG   DISEASE: DDOD 症候群
エントリ  
H02219                                                             
名称    
DDOD 症候群;
優性遺伝性難聴・爪ジストロフィー
概要    
Dominant deafness-onychodystrophy (DDOD) is an autosomal dominant syndrome characterized mainly by congenital sensorineural hearing loss accompanied by dystrophic or absent nails. Patients with DDOD syndrome have normal development and cognitive functions. It has been suggested that de novo mutation in ATP6V1B2 impairs lysosome acidification and causes DDOD.
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
   LD27  主な特徴として皮膚または粘膜の異常を伴う症候群
    H02219  DDOD 症候群
パスウェイ 
hsa04150  mTOR signaling pathway
hsa04721  Synaptic vesicle cycle
hsa00190  Oxidative phosphorylation
病因遺伝子 
ATP6B1B2 [HSA:526] [KO:K02147]
リンク   
ICD-11: LD27.0Y
MeSH: C567274
OMIM: 124480
文献    
  著者
Menendez I, Carranza C, Herrera M, Marroquin N, Foster J 2nd, Cengiz FB, Bademci G, Tekin M
  タイトル
Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation.
  雑誌
Clin Case Rep 5:376-379 (2017)
DOI:10.1002/ccr3.761
文献    
  著者
Yuan Y, Zhang J, Chang Q, Zeng J, Xin F, Wang J, Zhu Q, Wu J, Lu J, Guo W, Yan X, Jiang H, Zhou B, Li Q, Gao X, Yuan H, Yang S, Han D, Mao Z, Chen P, Lin X, Dai P
  タイトル
De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.
  雑誌
Cell Res 24:1370-3 (2014)
DOI:10.1038/cr.2014.77
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