KEGG   DISEASE: 若年発症型両側性感音難聴
エントリ  
H01705                                                             
名称    
若年発症型両側性感音難聴;
突発性両側性感音難聴
  上位グループ
遺伝性難聴 (常染色体優性) [DS:H00604]
概要    
Bilateral sudden sensorineural hearing loss (SNHL) represents a rare disease entity, constituting less than 5 % of all sudden SNHL cases. Unlike unilateral disease, bilateral sudden SNHL appears to be mostly related to serious systemic pathology, and is associated with a more severe degree of hearing loss, poorer prognosis following treatment, and more significant impairment in morbidity and overall quality of life.
カテゴリ  
神経系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 10 耳・乳様突起の疾患
  聴覚障害
   AB51  後天性聴覚障害
    H01705  若年発症型両側性感音難聴
指定難病 [jp08407.html]
 H01705
パスウェイ 
hsa04015  Rap1 signaling pathway
hsa04810  Regulation of actin cytoskeleton
hsa04210  Apoptosis
hsa04530  Tight junction
病因遺伝子 
ACTG1 [HSA:71] [KO:K05692]
CDH23 [HSA:64072] [KO:K06813]
COCH [HSA:1690] [KO:K23574]
KCNQ4 [HSA:9132] [KO:K04929]
TECTA [HSA:7007] [KO:K18273]
TMPRSS3 [HSA:64699] [KO:K09634]
WFS1 [HSA:7466] [KO:K14020]
EYA4 [HSA:2070] [KO:K17622]
MYO6 [HSA:4646] [KO:K10358]
MYO15A [HSA:51168] [KO:K10361]
POU4F3 [HSA:5459] [KO:K09366]
コメント  
See also H01704 Sudden sensorineural hearing loss, H00604 Deafness, autosomal dominant, and H00605 Deafness, autosomal recessive.
リンク   
ICD-11: AB51.1
MeSH: D006312
文献    
  著者
Sara SA, Teh BM, Friedland P
  タイトル
Bilateral sudden sensorineural hearing loss: review.
  雑誌
J Laryngol Otol 128 Suppl 1:S8-15 (2014)
DOI:10.1017/S002221511300306X
文献    
  著者
Chen YH, Young YH
  タイトル
Bilateral simultaneous sudden sensorineural hearing loss.
  雑誌
J Neurol Sci 362:139-43 (2016)
DOI:10.1016/j.jns.2016.01.029
文献    
  著者
Smith RJH, Shearer AE, Hildebrand MS, Van Camp G
  タイトル
Deafness and Hereditary Hearing Loss Overview
  雑誌
GeneReviews (1993)
文献    
  著者
Eshraghi AA, Polineni SP, Davies C, Shahal D, Mittal J, Al-Zaghal Z, Sinha R, Jindal U, Mittal R
  タイトル
Genotype-Phenotype Correlation for Predicting Cochlear Implant Outcome: Current Challenges and Opportunities.
  雑誌
Front Genet 11:678 (2020)
DOI:10.3389/fgene.2020.00678
LinkDB    

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