KEGG   DISEASE: 耳硬化症
エントリ  
H02828                                                             
名称    
耳硬化症
概要    
Otosclerosis (OTSC) is a common cause of adult-onset progressive hearing loss. It results from dysregulation of bone homeostasis in the otic capsule, most commonly leading to fixation of the stapes bone, impairing sound conduction through the middle ear. Several genomic loci have been mapped in families segregating autosomal dominant otosclerosis. Recently, associations with a few genes have also been identified.
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
  内耳疾患
   AB33  耳硬化症
    H02828  耳硬化症
病因遺伝子 
(OTSC11) FOXL1 [HSA:2300] [KO:K09405]
(OTSC12) SMARCA4 [HSA:6597] [KO:K11647]
リンク   
ICD-11: AB33
OMIM: 166800 620576 620792
文献    
  著者
Ealy M, Smith RJH
  タイトル
Otosclerosis.
  雑誌
Adv Otorhinolaryngol 70:122-129 (2011)
DOI:10.1159/000322488
文献    
PMID:34633540 (OTSC11)
  著者
Abdelfatah N, Mostafa AA, French CR, Doucette LP, Penney C, Lucas MB, Griffin A, Booth V, Rowley C, Besaw JE, Tranebjaerg L, Rendtorff ND, Hodgkinson KA, Little LA, Agrawal S, Parnes L, Batten T, Moore S, Hu P, Pater JA, Houston J, Galutira D, Benteau T, MacDonald C, French D, O'Rielly DD, Stanton SG, Young TL
  タイトル
A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene.
  雑誌
Hum Genet 141:965-979 (2022)
DOI:10.1007/s00439-021-02381-1
文献    
PMID:37399313 (OTSC12)
  著者
Drabkin M, Jean MM, Noy Y, Halperin D, Yogev Y, Wormser O, Proskorovski-Ohayon R, Dolgin V, Levaot N, Brumfeld V, Ovadia S, Kishner M, Kazenell U, Avraham KB, Shelef I, Birk OS
  タイトル
SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice.
  雑誌
J Med Genet 61:117-124 (2024)
DOI:10.1136/jmg-2023-109264
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