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 58 30 13
Otosclerosis 74
Otsc1 58
Ots 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant with reduced penetrance


HPO:

33
otosclerosis 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 166800
SNOMED-CT via HPO 70 11543004 263681008 44057004
UMLS 74 C0029899

Summaries for Otosclerosis 1

OMIM : 58 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 skin, 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

Human phenotypes related to Otosclerosis 1:

33
# Description HPO Frequency HPO Source Accession
1 conductive hearing impairment 33 HP:0000405
2 otosclerosis 33 HP:0000362

Symptoms via clinical synopsis from OMIM:

58
Ears:
otosclerosis
conductive hearing loss

Clinical features from OMIM:

166800

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 30

Anatomical Context for Otosclerosis 1

MalaCards organs/tissues related to Otosclerosis 1:

42
Bone, Testes, Skin

Publications for Otosclerosis 1

Articles related to Otosclerosis 1:

(show top 50) (show all 817)
# 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
Significance of internal auditory canal diverticula in ears with otosclerosis. ( 30682901 )
2019
5
Modified-Power-Piston: Short-Incudial-Process-Vibroplasty and Simultaneous Stapedotomy in Otosclerosis. ( 30694983 )
2019
6
Cochlear Implant Users with Otosclerosis: Are Hearing and Quality of Life Outcomes Worse than in Cochlear Implant Users without Otosclerosis? ( 30739102 )
2019
7
Involvement of the Internal Auditory Canal in Subjects With Cochlear Otosclerosis: A Less Acknowledged Third Window That Affects Surgical Outcome. ( 30741893 )
2019
8
Our experience of stapes superstructure and incudostapedial joint preservation in otosclerosis surgery. ( 30793516 )
2019
9
Clinical Features of Ears With Otosclerosis and Endolymphatic Hydrops. ( 30870351 )
2019
10
Otosclerosis: anatomical distribution of otosclerotic loci analyzed by high-resolution computed tomography. ( 30887165 )
2019
11
Prevalence and severity of tinnitus in Polish otosclerosis patients qualified for stapes surgery. ( 30895434 )
2019
12
Successful Cochlear Implantation of a Split Electrode Array in a Patient With Far-advanced Otosclerosis Assisted by Electromagnetic Navigation: A Case Report. ( 29995006 )
2018
13
Otosclerosis in a nonendemic population: Utility of CT scan and correlation with audiometry and surgical outcome. ( 30036411 )
2018
14
Stapes Surgery for Otosclerosis in Patients Presenting with Mixed Hearing Loss. ( 30130744 )
2018
15
A Role for Acoustic Stimulation in Advanced Otosclerosis: Direct Acoustic Cochlear Implant versus Cochlear Implant. ( 30130747 )
2018
16
3D fluid attenuated inversion recovery (FLAIR) magnetic resonance imaging at different stages of otosclerosis. ( 30191304 )
2018
17
Nitinol versus non-Nitinol prostheses in otosclerosis surgery: a meta-analysis. ( 30197420 )
2018
18
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis. ( 30287925 )
2018
19
Bilateral Vestibulopathy Due to Severe Cochlear Otosclerosis: A Well-Known Condition Without Any Favorable Solution. ( 30319876 )
2018
20
Retrospective Review of Otic Capsule Contour and Thickness in Patients with Otosclerosis and Individuals with Normal Hearing on CT. ( 30467217 )
2018
21
Cochlear implantation in far-advanced otosclerosis: hearing results and complications. ( 30498273 )
2018
22
Superior semicircular canal dehiscence with concomitant otosclerosis-A literature review and case discussion. ( 30564330 )
2018
23
The role of cVEMPs and vHIT in the evaluation of otosclerosis and its eventual vestibular impairment: preliminary findings. ( 29557560 )
2017
24
Erratum to: Diagnostic value of cone-beam CT in histologically confirmed otosclerosis. ( 27130206 )
2016
25
The distance between stapedial footplate and incus in otosclerosis surgery. ( 29937777 )
2015
26
Surgical and clinical confirmation of temporal bone CT findings in patients with otosclerosis with failed stapes surgery. ( 24481328 )
2014
27
In reference to Laser versus conventional fenestration in stapedotomy for otosclerosis: a systematic review. ( 24482149 )
2014
28
Contribution of Vestibular-Evoked Myogenic Potential (VEMP) testing in the assessment and the differential diagnosis of otosclerosis. ( 24509900 )
2014
29
In response to Laser versus conventional fenestration in stapedotomy for otosclerosis: a systematic review. ( 24510640 )
2014
30
Imaging in otosclerosis: A pictorial review. ( 24510845 )
2014
31
The radiological diagnosis of fenestral otosclerosis: the utility of histogram analysis using multidetector row CT. ( 24534895 )
2014
32
Superior canal dehiscence patients have smaller mastoid volume than age- and sex-matched otosclerosis and temporal bone fracture patients. ( 24653885 )
2012
33
Otosclerosis: anatomy and pathology in the temporal bone assessed by multi-slice and cone-beam CT. ( 22771999 )
2012
34
Prediction of stapes footplate thickness based on the level of hearing loss in otosclerosis. ( 22930082 )
2012
35
Cavitating otosclerosis: clinical, radiologic, and histopathologic correlations. ( 20195188 )
2010
36
Otosclerosis 1: the aetiopathogenesis of otosclerosis. ( 19769709 )
2009
37
Otosclerosis: an organ-specific inflammatory disease with sensorineural hearing loss. ( 19340443 )
2009
38
New aspects in the clinical diagnosis of otosclerosis using laser Doppler vibrometry. ( 19471171 )
2009
39
High-resolution computed tomography in the diagnosis of otosclerosis in Taiwan. ( 19837647 )
2009
40
Far advanced otosclerosis: stapes surgery or cochlear implantation? ( 15841994 )
2004
41
Cochlear otosclerosis. ( 10935299 )
2000
42
Cochlear implantation in otosclerosis: a unique positioning and programming problem. ( 9156063 )
1997
43
Facial nerve stimulation produced by cochlear implants in patients with cochlear otosclerosis. ( 8579147 )
1994
44
Otosclerosis involving the vestibular aqueduct and Menière's disease. ( 2117717 )
1990
45
The incisor absent rat: an animal model for the study of otosclerosis. ( 2122370 )
1990
46
Cochlear otosclerosis: does bone formation affect cochlear implant surgery? ( 2188511 )
1990
47
Lasers for otosclerosis--which one if any and why. ( 2233099 )
1990
48
Immunohistochemistry of otosclerosis. ( 2239226 )
1990
49
Pre- and postoperative high-frequency audiometry in otosclerosis. A study of 53 cases. ( 2304757 )
1990
50
Immunohistologic findings in otosclerosis. ( 2337314 )
1990

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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