KEGG   DISEASE: Otosclerosis
Entry
H02828                      Disease                                
Name
Otosclerosis
Description
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.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 10 Diseases of the ear or mastoid process
  Diseases of inner ear
   AB33  Otosclerosis
    H02828  Otosclerosis
Gene
(OTSC11) FOXL1 [HSA:2300] [KO:K09405]
(OTSC12) SMARCA4 [HSA:6597] [KO:K11647]
Other DBs
ICD-11: AB33
ICD-10: H80
OMIM: 166800 620576 620792
Reference
  Authors
Ealy M, Smith RJH
  Title
Otosclerosis.
  Journal
Adv Otorhinolaryngol 70:122-129 (2011)
DOI:10.1159/000322488
Reference
PMID:34633540 (OTSC11)
  Authors
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
  Title
A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene.
  Journal
Hum Genet 141:965-979 (2022)
DOI:10.1007/s00439-021-02381-1
Reference
PMID:37399313 (OTSC12)
  Authors
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
  Title
SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice.
  Journal
J Med Genet 61:117-124 (2024)
DOI:10.1136/jmg-2023-109264
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