OTS
MCID: OTS005
MIFTS: 30

Otosclerosis 1 (OTS)

Categories: Bone diseases, Ear diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Otosclerosis 1

MalaCards integrated aliases for Otosclerosis 1:

Name: Otosclerosis 1 57 29 13
Otosclerosis 73
Otsc1 57
Ots 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant with reduced penetrance


HPO:

32
otosclerosis 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 166800
MedGen 42 C0029899
SNOMED-CT via HPO 69 263681008 11543004 44057004
UMLS 73 C0029899

Summaries for Otosclerosis 1

OMIM : 57 Clinical otosclerosis, the single most common cause of hearing impairment, is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule. Otosclerotic foci invade the stapediovestibular joint (oval window) and interfere with free motion of the stapes. Mean age of onset is in the third decade and 90% of affected persons are under 50 years of age at the time of diagnosis. Approximately 10% of affected persons develop profound sensorineural hearing loss across all frequencies (summary by Tomek et al., 1998). (166800)

MalaCards based summary : Otosclerosis 1, also known as otosclerosis, is related to primary orthostatic tremor and perrault syndrome 1, and has symptoms including earache An important gene associated with Otosclerosis 1 is OTSC1 (Otosclerosis 1). Affiliated tissues include bone, testes and b cells, and related phenotypes are conductive hearing impairment and otosclerosis

Related Diseases for Otosclerosis 1

Graphical network of the top 20 diseases related to Otosclerosis 1:



Diseases related to Otosclerosis 1

Symptoms & Phenotypes for Otosclerosis 1

Symptoms via clinical synopsis from OMIM:

57
Ears:
otosclerosis
conductive hearing loss


Clinical features from OMIM:

166800

Human phenotypes related to Otosclerosis 1:

32
# Description HPO Frequency HPO Source Accession
1 conductive hearing impairment 32 HP:0000405
2 otosclerosis 32 HP:0000362

UMLS symptoms related to Otosclerosis 1:


earache

Drugs & Therapeutics for Otosclerosis 1

Search Clinical Trials , NIH Clinical Center for Otosclerosis 1

Genetic Tests for Otosclerosis 1

Genetic tests related to Otosclerosis 1:

# Genetic test Affiliating Genes
1 Otosclerosis 1 29

Anatomical Context for Otosclerosis 1

MalaCards organs/tissues related to Otosclerosis 1:

41
Bone, Testes, B Cells, Skin

Publications for Otosclerosis 1

Articles related to Otosclerosis 1:

(show top 50) (show all 408)
# Title Authors Year
1
Surgery for Chronic Otitis Media Causes Greater Taste Disturbance Than Surgery for Otosclerosis. ( 30540698 )
2019
2
Otosclerosis and Dysplasias of the Temporal Bone. ( 30466643 )
2019
3
The Epidemiology of Otosclerosis in a British Cohort. ( 30540696 )
2019
4
Otosclerosis: From Genetics to Molecular Biology. ( 29502723 )
2018
5
Successful Cochlear Implantation of a Split Electrode Array in a Patient With Far-advanced Otosclerosis Assisted by Electromagnetic Navigation: A Case Report. ( 29995006 )
2018
6
Otosclerosis in a nonendemic population: Utility of CT scan and correlation with audiometry and surgical outcome. ( 30036411 )
2018
7
Stapes Surgery for Otosclerosis in Patients Presenting with Mixed Hearing Loss. ( 30130744 )
2018
8
A Role for Acoustic Stimulation in Advanced Otosclerosis: Direct Acoustic Cochlear Implant versus Cochlear Implant. ( 30130747 )
2018
9
3D fluid attenuated inversion recovery (FLAIR) magnetic resonance imaging at different stages of otosclerosis. ( 30191304 )
2018
10
Nitinol versus non-Nitinol prostheses in otosclerosis surgery: a meta-analysis. ( 30197420 )
2018
11
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis. ( 30287925 )
2018
12
Bilateral Vestibulopathy Due to Severe Cochlear Otosclerosis: A Well-Known Condition Without Any Favorable Solution. ( 30319876 )
2018
13
Retrospective Review of Otic Capsule Contour and Thickness in Patients with Otosclerosis and Individuals with Normal Hearing on CT. ( 30467217 )
2018
14
Cochlear implantation in far-advanced otosclerosis: hearing results and complications. ( 30498273 )
2018
15
Diagnosis of Superior Semicircular Canal Dehiscence in the Presence of Concomitant Otosclerosis. ( 28657952 )
2017
16
Identifying Otosclerosis with Aural Acoustical Tests of Absorbance, Group Delay, Acoustic Reflex Threshold, and Otoacoustic Emissions. ( 28972472 )
2017
17
The role of cVEMPs and vHIT in the evaluation of otosclerosis and its eventual vestibular impairment: preliminary findings. ( 29557560 )
2017
18
Erratum to: Diagnostic value of cone-beam CT in histologically confirmed otosclerosis. ( 27130206 )
2016
19
The distance between stapedial footplate and incus in otosclerosis surgery. ( 29937777 )
2015
20
In reference to Laser versus conventional fenestration in stapedotomy for otosclerosis: a systematic review. ( 24482149 )
2014
21
Contribution of Vestibular-Evoked Myogenic Potential (VEMP) testing in the assessment and the differential diagnosis of otosclerosis. ( 24509900 )
2014
22
In response to Laser versus conventional fenestration in stapedotomy for otosclerosis: a systematic review. ( 24510640 )
2014
23
Imaging in otosclerosis: A pictorial review. ( 24510845 )
2014
24
The radiological diagnosis of fenestral otosclerosis: the utility of histogram analysis using multidetector row CT. ( 24534895 )
2014
25
Laser versus conventional fenestration in stapedotomy for otosclerosis: a systematic review. ( 24214900 )
2014
26
Surgical and clinical confirmation of temporal bone CT findings in patients with otosclerosis with failed stapes surgery. ( 24481328 )
2014
27
Local versus general anesthesia in stapes surgery for otosclerosis: a systematic review of the evidence. ( 23764961 )
2013
28
Detection of otosclerosis-specific measles virus receptor (cd46) protein isoforms. ( 23864959 )
2013
29
The rs39335 polymorphism of the RELN gene is not associated with otosclerosis in a southern Italian population. ( 24227897 )
2013
30
Middle ear exploration results in suspected otosclerosis cases: are ossicular and footplate area anomalies rare? ( 24303436 )
2013
31
Superior canal dehiscence patients have smaller mastoid volume than age- and sex-matched otosclerosis and temporal bone fracture patients. ( 24653885 )
2012
32
Otosclerosis: anatomy and pathology in the temporal bone assessed by multi-slice and cone-beam CT. ( 22771999 )
2012
33
Prediction of stapes footplate thickness based on the level of hearing loss in otosclerosis. ( 22930082 )
2012
34
Outcome of stapes surgery for tinnitus recovery in otosclerosis. ( 23906826 )
2012
35
Latent superior canal dehiscence syndrome unmasked by stapedotomy for otosclerosis. ( 19840429 )
2010
36
Cavitating otosclerosis: clinical, radiologic, and histopathologic correlations. ( 20195188 )
2010
37
Otosclerosis 1: the aetiopathogenesis of otosclerosis. ( 19769709 )
2009
38
Otosclerosis: an organ-specific inflammatory disease with sensorineural hearing loss. ( 19340443 )
2009
39
New aspects in the clinical diagnosis of otosclerosis using laser Doppler vibrometry. ( 19471171 )
2009
40
Stimulation of the facial nerve by intracochlear electrodes in otosclerosis: a computer modeling study. ( 19574948 )
2009
41
Presence of otosclerosis and paget lesions in the same temporal bone. ( 19779387 )
2009
42
High-resolution computed tomography in the diagnosis of otosclerosis in Taiwan. ( 19837647 )
2009
43
Taste deficits after middle ear surgery for otosclerosis: taste somatosensory interactions. ( 18821980 )
2008
44
Otosclerosis and associated otopathologic conditions. ( 17245020 )
2007
45
Stapes pathology in otosclerosis: scanning electron microscopic examination. ( 17245024 )
2007
46
Revision stapes surgery: retrospective analysis of surgical findings in a series of 21 otosclerosis patients. ( 17245058 )
2007
47
Surgical treatment of otosclerosis in medical residency training. ( 17308824 )
2006
48
Bone-conduction hearing and the occlusion effect in otosclerosis and normal controls. ( 16272931 )
2005
49
Success rate in revision stapes surgery for otosclerosis. ( 16272932 )
2005
50
Association of otosclerosis with Sp1 binding site polymorphism in COL1A1 gene: evidence for a shared genetic etiology with osteoporosis. ( 15241219 )
2004

Variations for Otosclerosis 1

Expression for Otosclerosis 1

Search GEO for disease gene expression data for Otosclerosis 1.

Pathways for Otosclerosis 1

GO Terms for Otosclerosis 1

Sources for Otosclerosis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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