MCID: OTS001
MIFTS: 53

Otosclerosis

Categories: Ear diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Otosclerosis

MalaCards integrated aliases for Otosclerosis:

Name: Otosclerosis 12 72 28 51 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:12185
ICD9CM 34 387.8
SNOMED-CT 64 194382008 194691004

Summaries for Otosclerosis

Disease Ontology : 12 An otitis interna characterized by an abnormal bone growth in the middle ear.

MalaCards based summary : Otosclerosis is related to diastrophic dysplasia and ankylosis, and has symptoms including earache An important gene associated with Otosclerosis is OTSC5 (Otosclerosis 5), and among its related pathways/superpathways are Degradation of the extracellular matrix and Human Embryonic Stem Cell Pluripotency. The drugs Acetylcysteine and Antidotes have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and t cells, and related phenotypes are cardiovascular system and craniofacial

Wikipedia : 72 Otosclerosis or otospongiosis is an abnormal growth of bone near the middle ear. It can result in... more...

Related Diseases for Otosclerosis

Diseases in the Otosclerosis family:

Otosclerosis 1 Otosclerosis 2
Otosclerosis 3 Otosclerosis 5
Otosclerosis 4 Otosclerosis 7
Otosclerosis 8 Otosclerosis 10
Otosclerosis, Familial

Diseases related to Otosclerosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 diastrophic dysplasia 30.2 BMP2 SLC26A2 TGFB1
2 ankylosis 29.8 BMP2 BMP4 NOG TNFRSF11B
3 osteoporosis 29.4 BMP2 COL1A1 COL1A2 NOG SLC26A2 TGFB1
4 otosclerosis 1 12.3
5 otosclerosis 10 12.2
6 otosclerosis 3 12.1
7 otosclerosis 2 12.1
8 otosclerosis 5 12.1
9 otosclerosis 7 12.1
10 otosclerosis 4 12.1
11 otosclerosis 8 12.1
12 otosclerosis, familial 12.0
13 buschke-ollendorff syndrome 11.3
14 deafness, progressive, with stapes fixation 10.9
15 ehlers-danlos/osteogenesis imperfecta syndrome 10.5 COL1A1 COL1A2
16 ehlers-danlos syndrome, arthrochalasia type, 1 10.5 COL1A1 COL1A2
17 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
18 high bone mass osteogenesis imperfecta 10.4 COL1A1 COL1A2
19 larsen-like syndrome 10.3 COL1A1 COL1A2
20 osseous heteroplasia, progressive 10.3 BMP2 BMP4 NOG
21 proximal symphalangism 10.3 BMP2 BMP4 NOG
22 spondyloepiphyseal dysplasia congenita 10.3 COL1A1 COL1A2 SLC26A2
23 osteogenesis imperfecta, type viii 10.3 COL1A1 COL1A2
24 measles 10.3
25 osteogenesis imperfecta, type vi 10.3 COL1A1 COL1A2 SERPINF1
26 osteoporotic fracture 10.2 COL1A1 TNFRSF11B
27 bone development disease 10.2 COL1A1 COL1A2 SLC26A2
28 bone resorption disease 10.2 BMP2 COL1A1 TNFRSF11B
29 osteogenesis imperfecta, type iv 10.2 COL1A1 COL1A2 SERPINF1
30 bruck syndrome 10.2 COL1A1 COL1A2 SERPINF1
31 osteogenesis imperfecta, type i 10.2 COL1A1 COL1A2 TNFRSF11B
32 hyperostosis 10.2 COL1A1 TGFB1 TNFRSF11B
33 aortic valve disease 1 10.2 BMP2 TGFB1 TNFRSF11B
34 synovial chondromatosis 10.2 BMP2 BMP4 COL1A1 NOG
35 osteogenesis imperfecta, type vii 10.2 COL1A1 COL1A2
36 osteogenesis imperfecta, type iii 10.2 COL1A1 COL1A2 SERPINF1
37 sensorineural hearing loss 10.2
38 aortic valve disease 2 10.1 AGT BMP2 TNFRSF11B
39 superior semicircular canal dehiscence 10.1
40 stiff skin syndrome 10.0 COL1A2 TGFB1
41 aging 10.0
42 bone mineral density quantitative trait locus 8 10.0
43 bone mineral density quantitative trait locus 15 10.0
44 central nervous system origin vertigo 10.0
45 labyrinthitis 9.9
46 blood group, i system 9.8
47 otitis media 9.8
48 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.8
49 brittle bone disorder 9.8
50 mastoiditis 9.8

Graphical network of the top 20 diseases related to Otosclerosis:



Diseases related to Otosclerosis

Symptoms & Phenotypes for Otosclerosis

UMLS symptoms related to Otosclerosis:


earache

MGI Mouse Phenotypes related to Otosclerosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 AGT BMP2 BMP4 CD46 COL1A1 COL1A2
2 craniofacial MP:0005382 9.91 BMP2 BMP4 COL1A1 NOG SLC26A2 TGFB1
3 digestive/alimentary MP:0005381 9.87 BMP2 BMP4 COL1A1 NOG RELN SERPINF1
4 limbs/digits/tail MP:0005371 9.8 BMP2 BMP4 COL1A1 COL1A2 NOG SLC26A2
5 muscle MP:0005369 9.7 RELN TGFB1 AGT BMP4 COL1A1 COL1A2
6 reproductive system MP:0005389 9.61 AGT BMP2 BMP4 CD46 COL1A1 NOG
7 skeleton MP:0005390 9.28 BMP2 BMP4 COL1A1 COL1A2 NOG SERPINF1

Drugs & Therapeutics for Otosclerosis

Drugs for Otosclerosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
2 Antidotes Phase 4
3 Anti-Infective Agents Phase 4
4 Antioxidants Phase 4
5 Antiviral Agents Phase 4
6 Expectorants Phase 4
7 N-monoacetylcystine Phase 4
8 Protective Agents Phase 4
9 Respiratory System Agents Phase 4
10
tiludronate Approved, Investigational, Vet_approved Phase 3 89987-06-4 60937
11 Bone Density Conservation Agents Phase 3
12 Diphosphonates Phase 3

Interventional clinical trials:

(show all 11)

# Name Status NCT ID Phase Drugs
1 Efficacy of Acetylcysteine in Patients Undergoing Surgery for Otosclerosis Completed NCT00525551 Phase 4 Acetylcysteine;Placebo (NaCl)
2 Audiometric Parameters in Conductive Hearing Loss and Middle Ear Disease Unknown status NCT00222417 Phase 2, Phase 3
3 Hearing Aid Versus Surgical Rehabilitation as Treatment of Otosclerosis: Pilot Study Recruiting NCT02456272 Phase 3
4 Therapeutic Efficacy of Tiludronic Acid on Inner Ear Involvement in Advanced Otosclerosis Terminated NCT01617057 Phase 3 tiludronic acid;Placebo
5 Taste Disorders in Middle Ear Disease and After Middle Ear Surgery Unknown status NCT01584011
6 Quantification of Prosthesis Penetration With Conebeam in Otosclerosis Completed NCT02901093
7 Objective Measurement of Ossicular Chain Mobility Using a Palpating Instrument Intraoperatively Completed NCT02554422
8 Clinical Assessment of the External Sound Processor Worn by Patients Implanted With Codacs Completed NCT02156167
9 Cone Beam CT for Diagnosis of Select Otorhinolaryngology (ENT) Indications at Lower Dose Completed NCT01855425
10 Cone Beam and CT Scan for the Diagnosis of Otosclerosis (TACOS) Recruiting NCT02435446
11 Wide Frequency Band Test of Hearing in Veterans Enrolling by invitation NCT02019888

Search NIH Clinical Center for Otosclerosis

Genetic Tests for Otosclerosis

Genetic tests related to Otosclerosis:

# Genetic test Affiliating Genes
1 Otosclerosis 28

Anatomical Context for Otosclerosis

MalaCards organs/tissues related to Otosclerosis:

38
Bone, Testes, T Cells, Cortex, Eye

Publications for Otosclerosis

Articles related to Otosclerosis:

(show top 50) (show all 595)
# Title Authors Year
1
Prevention and Management of Complications in Otosclerosis Surgery. ( 29397113 )
2018
2
The Audiology of Otosclerosis. ( 29397946 )
2018
3
Absence of Measles Virus Detection from Stapes of Patients with Otosclerosis. ( 28971731 )
2018
4
Clinical Evaluation of the Patient with Otosclerosis. ( 29395113 )
2018
5
Minimally traumatic stapes surgery for otosclerosis: Risk reduction of post-operative vertigo. ( 29428320 )
2018
6
Living with otosclerosis: disease-specific health-related quality-of-life measurement in patients undergoing stapes surgery. ( 29116384 )
2018
7
Otosclerosis: Temporal Bone Pathology. ( 29397947 )
2018
8
Otosclerosis With Concomitant Anterior Malleolar Ligament Fixation. ( 29227459 )
2018
9
Special Anatomic Considerations in Otosclerosis Surgery. ( 29397114 )
2018
10
Additive value of "otosclerosis-weighted" images for the CT diagnosis of fenestral otosclerosis. ( 28090791 )
2017
11
An Assessment of the Clinical Acceptability of Direct Acoustic Cochlear Implantation for Adults With Advanced Otosclerosis in the United Kingdom. ( 28538469 )
2017
12
Early Postoperative Imaging of the Labyrinth by Cone Beam CT After Stapes Surgery for Otosclerosis With Correlation to Audiovestibular Outcome. ( 28068300 )
2017
13
Otosclerosis: An update on diagnosis and treatment. ( 28060022 )
2017
14
Third-generation bisphosphonates for cochlear otosclerosis stabilizes sensorineural hearing loss in long-term follow-up. ( 29094069 )
2017
15
Diagnosis of Superior Semicircular Canal Dehiscence in the Presence of Concomitant Otosclerosis. ( 28657952 )
2017
16
Cochlear Implantation in Otosclerosis: Surgical and Auditory Outcomes With a Brief on Facial Nerve Stimulation. ( 28902803 )
2017
17
Identifying Otosclerosis with Aural Acoustical Tests of Absorbance, Group Delay, Acoustic Reflex Threshold, and Otoacoustic Emissions. ( 28972472 )
2017
18
Prevalence of Internal Auditory Canal Diverticulum and Its Association with Hearing Loss and Otosclerosis. ( 28982792 )
2017
19
Surgical Results and Complications of Cochlear Implantation in Far-Advanced Otosclerosis. ( 29360086 )
2017
20
The surgical treatment results of otosclerosis at the Department of Otolaryngology Silesian Medical University in Zabrze in years 2000-2010. ( 28485298 )
2017
21
Cochlear implantation in patients with otosclerosis of the otic capsule. ( 28549773 )
2017
22
Audiological outcome of stapes surgery for far advanced cochlear otosclerosis. ( 28874211 )
2017
23
Importance of a dedicated neuroradiologist in reporting high-resolution computed tomography for otosclerosis: a retrospective comparison study of 40 patients. ( 28318477 )
2017
24
Does Otosclerosis Affect Dark and Transitional Cells in the Human Vestibular Labyrinth? ( 27851656 )
2017
25
Diagnostic performance of high resolution computed tomography in otosclerosis. ( 28798924 )
2017
26
Juvenile otosclerosis: a case presentation and review of the literature. ( 27084899 )
2016
27
Magnetic resonance imaging evaluation of endolymphatic hydrops andpost-operative findings in cases with otosclerosis. ( 27676652 )
2016
28
Update on the imaging diagnosis of otosclerosis. ( 27267384 )
2016
29
Diode Laser Stapedotomy vs Conventional Stapedotomy in Otosclerosis: A Double-Blinded Randomized Clinical Trial. ( 26980905 )
2016
30
Analysis of hearing improvement in the patients operated on due to otosclerosis in the Otolaryngology Department of Jagiellonian University of Cracow, Poland. ( 27383734 )
2016
31
Obliquity of the Stapes in Otosclerosis: A New Radiological Sign. ( 27096011 )
2016
32
Does stapes surgery improve tinnitus in patients with otosclerosis? ( 27553985 )
2016
33
Otosclerosis Associated with a De Novo Mutation -832Ga88>a88A in the TGFB1 Gene Promoter Causing a Decreased Expression Level. ( 27404893 )
2016
34
Cochlear Lymph Fluid Signal Increase in Patients with Otosclerosis after Intravenous Administration of Gadodiamide. ( 26841857 )
2016
35
A Systematic Review of the Diagnostic Value of CT Imaging in Diagnosing Otosclerosis. ( 26649602 )
2016
36
3D-Flair sequence at 3T in cochlear otosclerosis. ( 26747254 )
2016
37
How Often Does Stapedectomy for Otosclerosis Result in Endolymphatic Hydrops? ( 27380537 )
2016
38
Relation of otosclerosis and osteoporosis: A bone mineral density study. ( 26656733 )
2016
39
Day-case stapes surgery: Day-case versus inpatient stapes surgery for otosclerosis: a randomized controlled trial. ( 26924941 )
2016
40
Flexible Fiber Optic Carbon-Dioxide Laser Assisted Stapedotomy in Otosclerosis. ( 27725835 )
2016
41
The Effect of Piston Diameter in Stapedotomy for Otosclerosis: A Temporal Bone Model. ( 27642666 )
2016
42
Endoscopic approach for cochlear implantation in advanced otosclerosis: A case report. ( 27106776 )
2016
43
Evaluation of Functional Outcomes after Stapes Surgery in Patients with Clinical Otosclerosis in a Teaching Institution. ( 26722344 )
2016
44
Mutations and altered expression of SERPINF1 in patients with familial otosclerosis. ( 27056980 )
2016
45
Long-term Incidence and Degree of Sensorineural Hearing Loss in Otosclerosis. ( 27755362 )
2016
46
Stapedotomy vs Cochlear Implantation for Advanced Otosclerosis: Systematic Review and Meta-analysis. ( 27329418 )
2016
47
Evaluation of Round Window Stimulation Performance in Otosclerosis Using Finite Element Modeling. ( 27034709 )
2016
48
Oxidative stress in otosclerosis. ( 27387094 )
2016
49
Comparison of manually crimping and laser-activated nitinol prosthesis in otosclerosis surgery: our experience of 98 patients. ( 26804928 )
2016
50
Analysis of hearing improvement in the patients operated on due to otosclerosis in the Otolaryngology Department of Jagiellonian University of Cracow, Poland. ( 27386930 )
2016

Variations for Otosclerosis

Expression for Otosclerosis

Search GEO for disease gene expression data for Otosclerosis.

Pathways for Otosclerosis

GO Terms for Otosclerosis

Cellular components related to Otosclerosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.96 AGT BMP2 BMP4 COL1A1 COL1A2 NOG
2 extracellular space GO:0005615 9.65 AGT BMP2 BMP4 COL1A1 COL1A2 NOG
3 collagen type I trimer GO:0005584 9.16 COL1A1 COL1A2
4 proteinaceous extracellular matrix GO:0005578 9.1 BMP4 COL1A1 COL1A2 RELN TGFB1 TNFRSF11B

Biological processes related to Otosclerosis according to GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell migration GO:0030335 9.96 BMP2 BMP4 COL1A1 TGFB1
2 kidney development GO:0001822 9.9 AGT BMP4 SERPINF1
3 positive regulation of neuron projection development GO:0010976 9.89 AGT RELN SERPINF1
4 response to estradiol GO:0032355 9.89 AGT COL1A1 TGFB1
5 wound healing GO:0042060 9.89 COL1A1 NOG TGFB1
6 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.88 AGT RELN TGFB1
7 neural tube closure GO:0001843 9.87 BMP4 NOG TGFB1
8 cellular response to mechanical stimulus GO:0071260 9.87 AGT COL1A1 TGFB1
9 cartilage development GO:0051216 9.87 BMP2 BMP4 NOG
10 positive regulation of epithelial cell proliferation GO:0050679 9.84 BMP4 NOG TGFB1
11 SMAD protein signal transduction GO:0060395 9.83 BMP2 BMP4 TGFB1
12 cellular response to growth factor stimulus GO:0071363 9.81 BMP2 BMP4 TGFB1
13 blood vessel development GO:0001568 9.79 BMP4 COL1A1 COL1A2
14 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.79 BMP2 BMP4 TGFB1
15 negative regulation of cell cycle GO:0045786 9.78 BMP2 BMP4 TGFB1
16 ureteric bud development GO:0001657 9.77 BMP4 NOG TGFB1
17 chondrocyte differentiation GO:0002062 9.77 BMP2 BMP4 TGFB1
18 osteoblast differentiation GO:0001649 9.76 BMP2 BMP4 COL1A1 NOG
19 epithelial to mesenchymal transition GO:0001837 9.75 BMP2 NOG TGFB1
20 embryonic skeletal system development GO:0048706 9.74 BMP4 COL1A1 NOG
21 anatomical structure formation involved in morphogenesis GO:0048646 9.73 BMP4 NOG
22 positive regulation of cellular protein metabolic process GO:0032270 9.73 AGT TGFB1
23 cellular response to BMP stimulus GO:0071773 9.73 BMP2 BMP4 NOG
24 positive regulation of cartilage development GO:0061036 9.72 BMP2 BMP4
25 endocardial cushion morphogenesis GO:0003203 9.72 BMP2 NOG
26 positive regulation of ossification GO:0045778 9.72 BMP2 BMP4
27 positive regulation of bone mineralization GO:0030501 9.72 BMP2 BMP4 TGFB1
28 positive regulation of superoxide anion generation GO:0032930 9.71 AGT TGFB1
29 positive regulation of SMAD protein import into nucleus GO:0060391 9.71 BMP4 TGFB1
30 pathway-restricted SMAD protein phosphorylation GO:0060389 9.71 BMP2 TGFB1
31 response to arsenic-containing substance GO:0046685 9.71 SERPINF1 TNFRSF11B
32 ossification GO:0001503 9.71 BMP2 BMP4 COL1A1 SLC26A2
33 protein heterotrimerization GO:0070208 9.7 COL1A1 COL1A2
34 embryonic skeletal joint morphogenesis GO:0060272 9.7 BMP4 NOG
35 positive regulation of regulatory T cell differentiation GO:0045591 9.69 CD46 TGFB1
36 mesenchymal cell differentiation GO:0048762 9.68 BMP2 NOG
37 membranous septum morphogenesis GO:0003149 9.68 BMP4 NOG
38 skin morphogenesis GO:0043589 9.68 COL1A1 COL1A2
39 renal system process GO:0003014 9.67 AGT BMP4
40 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.67 BMP4 TGFB1
41 face morphogenesis GO:0060325 9.67 COL1A1 NOG TGFB1
42 regulation of protein import into nucleus GO:0042306 9.65 BMP4 TGFB1
43 telencephalon regionalization GO:0021978 9.65 BMP2 BMP4
44 pharyngeal arch artery morphogenesis GO:0061626 9.65 BMP4 NOG
45 endoderm development GO:0007492 9.65 BMP4 NOG TGFB1
46 common-partner SMAD protein phosphorylation GO:0007182 9.63 BMP4 TGFB1
47 BMP signaling pathway involved in heart development GO:0061312 9.63 BMP4 NOG
48 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.62 BMP2 BMP4
49 BMP signaling pathway GO:0030509 9.62 BMP2 BMP4 NOG TGFB1
50 positive regulation of odontogenesis GO:0042482 9.58 BMP2 TGFB1

Molecular functions related to Otosclerosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.56 BMP2 BMP4 TGFB1 TNFRSF11B
2 platelet-derived growth factor binding GO:0048407 9.37 COL1A1 COL1A2
3 co-receptor binding GO:0039706 9.32 BMP2 BMP4
4 growth factor activity GO:0008083 9.26 AGT BMP2 BMP4 TGFB1
5 BMP receptor binding GO:0070700 9.16 BMP2 BMP4
6 transforming growth factor beta receptor binding GO:0005160 8.8 BMP2 BMP4 TGFB1

Sources for Otosclerosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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