MCID: OTS001
MIFTS: 50

Otosclerosis

Categories: Bone diseases, Ear diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Otosclerosis

MalaCards integrated aliases for Otosclerosis:

Name: Otosclerosis 11 75 28 53 43 14 38 16 71 31 33
Otospongiosis 33

Classifications:



External Ids:

Disease Ontology 11 DOID:12185
ICD9CM 34 387.8
MeSH 43 D010040
SNOMED-CT 68 194382008
ICD10 31 H80 H80.9
ICD11 33 1242649410
UMLS 71 C0029696 C0029899

Summaries for Otosclerosis

Disease Ontology: 11 An otitis interna characterized by an abnormal bone growth in the middle ear.

MalaCards based summary: Otosclerosis, also known as otospongiosis, is related to ankylosis and brittle bone disorder, and has symptoms including earache An important gene associated with Otosclerosis is OTSC2 (Otosclerosis 2), and among its related pathways/superpathways are Phospholipase-C Pathway and Extracellular matrix organization. The drugs Acetylcysteine and Antiviral Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, adrenal cortex and cortex, and related phenotypes are limbs/digits/tail and digestive/alimentary

Wikipedia: 75 Otosclerosis is a condition of the middle ear where portions of the dense enchondral layer of the bony... 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 212)
# Related Disease Score Top Affiliating Genes
1 ankylosis 31.2 TNFRSF11B TGFB1 NOG BMP4 BMP2
2 brittle bone disorder 31.2 TNFRSF11B SERPINF1 MEPE COL1A2 COL1A1 BMP4
3 osteogenesis imperfecta, type i 31.0 SERPINF1 COL1A2 COL1A1
4 bone disease 30.9 TNFRSF11B NOG COL1A1 BMP4 BMP2
5 diastrophic dysplasia 30.5 TGFB1 SLC26A2 BMP2
6 proximal symphalangism 30.5 NOG BMP4 BMP2
7 osteogenesis imperfecta, type vi 30.4 SERPINF1 MEPE COL1A2 COL1A1
8 osteoporosis 30.3 TNFRSF11B TGFB1 SLC26A2 NOG MEPE COL1A2
9 osteonecrosis 30.2 TNFRSF11B TGFB1 BMP2
10 synostosis 30.1 NOG BMP4 BMP2
11 osteogenic sarcoma 30.1 TNFRSF11B TGFB1 BMP4 BMP2
12 otosclerosis 1 11.5
13 otosclerosis 5 11.5
14 otosclerosis, familial 11.4
15 otosclerosis 10 11.3
16 otosclerosis 2 11.2
17 otosclerosis 3 11.2
18 otosclerosis 8 11.2
19 otosclerosis 4 11.2
20 otosclerosis 7 11.2
21 deafness, x-linked 2 11.1
22 sensorineural hearing loss 10.9
23 measles 10.6
24 osteogenesis imperfecta, type v 10.5 COL1A2 COL1A1
25 ehlers-danlos/osteogenesis imperfecta syndrome 10.5 COL1A2 COL1A1
26 otitis media 10.5
27 high bone mass osteogenesis imperfecta 10.5 COL1A2 COL1A1
28 glanders 10.4
29 superior semicircular canal dehiscence 10.4
30 breast scirrhous carcinoma 10.4 COL1A2 COL1A1
31 hyperostosis 10.4 TNFRSF11B TGFB1 COL1A1
32 ehlers-danlos syndrome, arthrochalasia type, 1 10.4 COL1A2 COL1A1
33 oral submucous fibrosis 10.4 TGFB1 COL1A2 COL1A1
34 pelvic organ prolapse 10.4 TGFB1 COL1A2 COL1A1
35 van buchem disease 10.4 TGFB1 MEPE COL1A1
36 fibrogenesis imperfecta ossium 10.4 COL1A2 COL1A1
37 bruck syndrome 10.4 SERPINF1 COL1A2 COL1A1
38 scleroderma, familial progressive 10.4 COL1A2 COL1A1
39 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.4
40 cleidocranial dysplasia 1 10.4 COL1A1 BMP4 BMP2
41 osseous heteroplasia, progressive 10.4 NOG BMP4 BMP2
42 meniere disease 10.4
43 osteogenesis imperfecta, type iv 10.4 SERPINF1 COL1A2 COL1A1
44 juvenile polyposis syndrome 10.4 NOG BMP4 BMP2
45 sclerosteosis 10.4 TGFB1 NOG MEPE COL1A1
46 plantar fasciitis 10.4 TGFB1 BMP2
47 cardiomyopathy, familial restrictive, 3 10.4 BMP4 BMP2
48 brachydactyly, type a2 10.4 NOG BMP4 BMP2
49 epicondylitis 10.4 TGFB1 COL1A1
50 endosteal hyperostosis, autosomal dominant 10.4 TNFRSF11B COL1A2 COL1A1 BMP2

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.87 BMP2 BMP4 COL1A1 COL1A2 NOG SLC26A2
2 digestive/alimentary MP:0005381 9.86 BMP2 BMP4 COL1A1 NOG RELN SERPINF1
3 craniofacial MP:0005382 9.7 BMP2 BMP4 COL1A1 NOG SLC26A2 TGFB1
4 skeleton MP:0005390 9.65 BMP2 BMP4 COL1A1 COL1A2 MEPE NOG
5 vision/eye MP:0005391 9.28 BMP4 CD46 COL1A1 COL1A2 NOG RELN

Drugs & Therapeutics for Otosclerosis

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 581 12035
2 Antiviral Agents Phase 4
3 Anti-Infective Agents Phase 4
4 Expectorants Phase 4
5 Antidotes Phase 4
6 N-monoacetylcystine Phase 4
7 Respiratory System Agents Phase 4
8 Antioxidants Phase 4
9 Protective Agents Phase 4
10
Tiludronic acid Approved, Investigational, Vet_approved Phase 3 89987-06-4 60937
11
Racepinephrine Approved, Vet_approved 51-43-4, 329-65-7 838 5816
12
Lidocaine Approved, Vet_approved 137-58-6 3676
13 Epinephryl borate
14 Anesthetics, Local
15 Anesthetics, General
16 Anesthetics
17 Narcotics

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Acetylcystein Vid Stapedotomi Completed NCT00525551 Phase 4 Acetylcysteine;Placebo (NaCl)
2 Therapeutic Efficacy of Tiludronic Acid on Inner Ear Involvement in Advanced Otosclerosis Terminated NCT01617057 Phase 3 tiludronic acid;Placebo
3 Audiometric Parameters in Conductive Hearing Loss and Middle Ear Disease Unknown status NCT00222417
4 Patient Satisfaction After Surgery for Otosclerosis Under Local ou General Anesthesia Completed NCT03888079 Local anesthetic;general anesthetic
5 Study of Binaural Squelch Effect Among Patients Undergoing Unilateral Otosclerosis Surgery: Comparison of Understanding in Noise Before-after Surgery Completed NCT03587792
6 Hearing Aid Versus Surgical Rehabilitation as Treatment of Otosclerosis: Pilot Study Completed NCT02456272
7 Early Postoperative Imaging of the Labyrinth by Cone Beam CT After Stapes Surgery for Otosclerosis With Correlation to Audiovestibular Outcome Completed NCT02901093
8 Endoscopic Stapedotomy: Classic Versus Reversal Technique Completed NCT05554796
9 Messung Der Beweglichkeit Der Gehörknöchelchenkette während Einer Ohroperation. ("Objective Measurements of Ossicular Chain Mobility Using a Palpating Instrument Intraoperatively") Completed NCT02554422
10 Comprehensive Wide Bandwidth Test Battery of Auditory Function in Veterans Completed NCT02019888
11 Cone Beam CT (CS 9300) for Diagnosis of Select Otorhinolaryngology (ENT) Indications at Lower Dose Completed NCT01855425
12 Validation of the French Version of the Stapesplasty Outcome Test 25 (SPOT-25) Completed NCT04908839
13 Cone Beam vs MDCT for Diagnosis and Pre-operative Evaluation of Otosclerosis Terminated NCT05214053
14 Comparison of Cone Beam With CT Scan for the Diagnosis of Otosclerosis Terminated NCT02435446

Search NIH Clinical Center for Otosclerosis

Cochrane evidence based reviews: otosclerosis

Genetic Tests for Otosclerosis

Genetic tests related to Otosclerosis:

# Genetic test Affiliating Genes
1 Otosclerosis 28

Anatomical Context for Otosclerosis

Organs/tissues related to Otosclerosis:

MalaCards : Bone, Adrenal Cortex, Cortex, Pineal, Skin, Thyroid, Eye

Publications for Otosclerosis

Articles related to Otosclerosis:

(show top 50) (show all 3985)
# Title Authors PMID Year
1
Genetics of otosclerosis. 53 62
19546831 2009
2
Otosclerosis or congenital stapes ankylosis? The diagnostic role of genetic analysis. 53 62
19471170 2009
3
Detection of rare nonsynonymous variants in TGFB1 in otosclerosis patients. 53 62
19207109 2009
4
Otosclerosis and TGF-beta 1 gene in black South Africans. 53 62
19113055 2008
5
Association of bone morphogenetic proteins with otosclerosis. 53 62
18021008 2008
6
Medical treatment of otosclerosis: rationale for use of bisphosphonates. 53 62
19205157 2008
7
The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations. 53 62
17588962 2007
8
Clinical and genetic analysis of two Tunisian otosclerosis families. 53 62
17568407 2007
9
Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis. 53 62
17489845 2007
10
Current research in otosclerosis. 53 62
16974150 2006
11
Glucocorticoids inhibit diastrophic dysplasia sulfate transporter activity in otosclerosis by interleukin-6. 53 62
16954997 2006
12
Monogenic nonsyndromic otosclerosis: audiological and linkage analysis in a large Greek pedigree. 53 62
16168495 2006
13
Effect of 17 beta-estradiol on diastrophic dysplasia sulfate transporter activity in otosclerotic bone cell cultures and SaOS-2 cells. 53 62
15513522 2004
14
Association between osteoporosis and otosclerosis in women. 53 62
15453937 2004
15
Association of otosclerosis with Sp1 binding site polymorphism in COL1A1 gene: evidence for a shared genetic etiology with osteoporosis. 53 62
15241219 2004
16
Proposed association between the COL1A1 and COL1A2 genes and otosclerosis is not supported by a case-control study in Spain. 53 62
15211650 2004
17
Increased activity of the diastrophic dysplasia sulfate transporter in otosclerosis and its inhibition by sodium fluoride. 53 62
14600463 2003
18
Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin. 53 62
12089654 2002
19
Similar COL1A1 expression in fibroblasts from some patients with clinical otosclerosis and those with type I osteogenesis imperfecta. 53 62
11860074 2002
20
Association of COL1A1 and otosclerosis: evidence for a shared genetic etiology with mild osteogenesis imperfecta. 53 62
9752968 1998
21
Phenotype of in vitro human otosclerotic cells and its modulation by TGF beta. 53 62
8747085 1995
22
Antibodies to the minor cartilage collagen type IX in otosclerosis. 53 62
8172305 1994
23
PORP vs. TORP in children: A systematic review and meta-analysis. 62
36347062 2023
24
Comparison of different oval window sealing materials in stapes surgery: systematic review and meta-analysis. 62
35857099 2022
25
Role of the endoscope in cochlear implantation: A systematic review. 62
34971491 2022
26
Ossicular osteoma of the malleus-A rare diagnosis of middle ear mass. 62
36188094 2022
27
Are there differences in revision stapes surgery outcomes between university and county clinics? A study from the quality register for otosclerosis surgery in Sweden. 62
36367582 2022
28
[Role of computed tomography in the preoperative diagnosis of otosclerosis]. 62
36326852 2022
29
Management of Juvenile Otosclerosis: A Systematic Review. 62
36421236 2022
30
"Hot" vs "Cold" endoscopic stapes surgery: a matched case-control study. 62
36380092 2022
31
Wideband Acoustic Absorbance in Otosclerosis: Does Stapedotomy Restore Normal Tympanic Cavity Function? 62
36405486 2022
32
Preoperative Evaluation of Otosclerosis: A National Survey of Otologists. 62
36047701 2022
33
Otopathologic and Computed Tomography Correlation of Internal Auditory Canal Diverticula in Otosclerosis. 62
36075107 2022
34
The effect of female hormone in otosclerosis. A comparative study and speculation about their effect on the ossicular chain based on the clinical results. 62
35187596 2022
35
The Case Against Stapedectomy as a Core Competency for General Practice: A Study of Care Patterns in the Department of Defense. 62
36006782 2022
36
Long-Term Audiometric Outcomes of a Self-Crimping Stapes Prosthesis With CO 2 Laser Stapedotomy. 62
36026603 2022
37
Removal and Repositioning of a Piston Wire Prosthesis That Entered the Vestibule Secondary to Trauma in a Patient Who Underwent Stapedotomy. 62
35196444 2022
38
The Effects of Middle-ear Stiffness on the Auditory Brainstem Neural Encoding of Phase. 62
36214911 2022
39
Improved Bone Conduction Hearing after Middle Ear Surgery: Investigation of the Improvement Mechanism. 62
36330708 2022
40
Wideband Tympanometry: Normative Data for Young Iranian Adults. 62
36137525 2022
41
The Spatial Distribution of Cellular Voids in the Human Otic Capsule: An Unbiased Quantification of Osteocyte-Depleted Areas. 62
35941668 2022
42
Do CT values change over time and correlate with hearing in the non-surgical ears of otosclerosis patients? 62
36093598 2022
43
Audiologic comparison of classification systems of advanced otosclerosis. 62
35714498 2022
44
Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I. 62
35855543 2022
45
Automatic Prediction of Conductive Hearing Loss Using Video Pneumatic Otoscopy and Deep Learning Algorithm. 62
35344974 2022
46
Cochlear Implantation in Far Advanced Otosclerosis: A Systematic Review and Meta-Analysis. 62
36082830 2022
47
Feasibility of CBCT in Diagnosing Otosclerosis by Measuring CBCT Bone Density: A Preliminary Study. 62
36213485 2022
48
Endoscopic Ear Surgery: Our Experience. 62
36032880 2022
49
Revision Stapes Surgery: Hearing Symptoms and Associations With Intraoperative Findings and Outcomes. 62
34846954 2022
50
RESPONSE TO LETTER TO THE EDITOR: "OUTCOMES OF STAPEDOTOMY IN PATIENTS WITH CONCOMITANT OTOSCLEROSIS AND SUPERIOR SEMICIRCULAR CANAL DEHISCENCE: SHOULD A RADIOGRAPHIC THIRD-WINDOW BE A CONTRAINDICATION TO STAPES SURGERY?" 62
35878648 2022

Variations for Otosclerosis

Expression for Otosclerosis

Search GEO for disease gene expression data for Otosclerosis.

Pathways for Otosclerosis

Pathways related to Otosclerosis according to GeneCards Suite gene sharing:

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.87 BMP2 BMP4 COL1A1 COL1A2 MEPE TGFB1
2
Show member pathways
12.52 TGFB1 COL1A2 COL1A1 BMP4 BMP2
3
Show member pathways
12.3 TGFB1 NOG BMP4 BMP2
4
Show member pathways
12.22 TGFB1 NOG COL1A2 BMP2
5 11.91 TGFB1 NOG BMP4
6 11.9 TGFB1 BMP4 BMP2
7
Show member pathways
11.82 TGFB1 NOG BMP4
8 11.78 TGFB1 COL1A1 BMP2
9 11.73 TGFB1 COL1A2 COL1A1
10
Show member pathways
11.71 TNFRSF11B TGFB1 BMP2
11
Show member pathways
11.62 TGFB1 BMP4 BMP2
12 11.56 TGFB1 COL1A2 COL1A1
13 11.43 TGFB1 NOG BMP4 BMP2
14 11.36 TGFB1 COL1A2 COL1A1
15 11.33 TGFB1 NOG BMP4
16 11.26 TGFB1 NOG BMP4
17 11 TNFRSF11B TGFB1 SERPINF1 MEPE BMP4 BMP2
18 10.97 TGFB1 COL1A2 COL1A1
19 10.88 TGFB1 COL1A2 COL1A1
20 10.85 TGFB1 BMP2
21 10.78 TNFRSF11B SERPINF1 COL1A2 COL1A1
22 10.75 BMP2 BMP4 COL1A1 COL1A2 MEPE TGFB1
23 10.63 NOG BMP2

GO Terms for Otosclerosis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.4 TNFRSF11B TGFB1 RELN MEPE COL1A2 COL1A1
2 collagen type I trimer GO:0005584 9.26 COL1A2 COL1A1

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

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 osteoblast differentiation GO:0001649 10.2 BMP2 BMP4 COL1A1 NOG
2 epithelial to mesenchymal transition GO:0001837 10.11 TGFB1 NOG BMP2
3 SMAD protein signal transduction GO:0060395 10.08 TGFB1 BMP4 BMP2
4 odontogenesis of dentin-containing tooth GO:0042475 10.07 TGFB1 BMP4 BMP2
5 chondrocyte differentiation GO:0002062 10.06 TGFB1 BMP4 BMP2
6 blood vessel development GO:0001568 10.06 BMP4 COL1A1 COL1A2
7 negative regulation of cell cycle GO:0045786 10.05 TGFB1 BMP4 BMP2
8 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 10.04 TGFB1 BMP4 BMP2
9 negative regulation of gene expression GO:0010629 10.03 TGFB1 SERPINF1 NOG CD46 BMP4 BMP2
10 positive regulation of bone mineralization GO:0030501 10.01 TGFB1 BMP4 BMP2
11 cartilage development GO:0051216 10 NOG BMP4 BMP2
12 pharyngeal arch artery morphogenesis GO:0061626 9.99 NOG BMP4
13 embryonic skeletal joint morphogenesis GO:0060272 9.99 NOG BMP4
14 embryonic skeletal system development GO:0048706 9.99 NOG COL1A1 BMP4
15 epithelial cell proliferation GO:0050673 9.97 TGFB1 NOG BMP4
16 cellular response to BMP stimulus GO:0071773 9.97 NOG BMP4 BMP2
17 ossification GO:0001503 9.97 SLC26A2 COL1A1 BMP4 BMP2
18 membranous septum morphogenesis GO:0003149 9.96 NOG BMP4
19 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.95 BMP4 BMP2
20 positive regulation of miRNA transcription GO:1902895 9.95 TGFB1 BMP4 BMP2
21 telencephalon regionalization GO:0021978 9.93 BMP2 BMP4
22 regulation of protein import into nucleus GO:0042306 9.92 TGFB1 BMP4
23 face morphogenesis GO:0060325 9.92 TGFB1 NOG COL1A1
24 ameloblast differentiation GO:0036305 9.91 BMP4 BMP2
25 BMP signaling pathway GO:0030509 9.91 BMP2 BMP4 NOG TGFB1
26 ureteric bud development GO:0001657 9.88 TGFB1 NOG BMP4
27 prostatic bud formation GO:0060513 9.88 NOG BMP4
28 cellular response to growth factor stimulus GO:0071363 9.86 TGFB1 BMP4 BMP2
29 positive regulation of epithelial cell differentiation GO:0030858 9.86 BMP4 BMP2
30 forebrain development GO:0030900 9.85 BMP4 NOG RELN
31 mesenchymal cell differentiation GO:0048762 9.85 NOG BMP2
32 common-partner SMAD protein phosphorylation GO:0007182 9.81 BMP4 TGFB1
33 mesenchymal cell proliferation involved in ureteric bud development GO:0072138 9.81 BMP4 BMP2
34 positive regulation of miRNA maturation GO:1903800 9.8 BMP4 TGFB1
35 endoderm development GO:0007492 9.78 TGFB1 NOG BMP4
36 positive regulation of SMAD protein signal transduction GO:0060391 9.77 TGFB1 BMP4 BMP2
37 positive regulation of epithelial to mesenchymal transition GO:0010718 9.76 BMP2 BMP4 COL1A1 TGFB1
38 positive regulation of odontogenesis GO:0042482 9.72 BMP2 TGFB1
39 cardiac jelly development GO:1905072 9.71 BMP2 BMP4
40 BMP signaling pathway involved in heart induction GO:0003130 9.71 BMP4 BMP2
41 regulation of cartilage development GO:0061035 9.56 TGFB1 BMP4
42 regulation of miRNA transcription GO:1902893 9.46 TGFB1 BMP4
43 skeletal system development GO:0001501 9.44 TNFRSF11B NOG MEPE COL1A2 COL1A1 BMP4
44 BMP signaling pathway involved in heart development GO:0061312 9.43 NOG BMP4 BMP2
45 specification of segmental identity, mandibular segment GO:0042305 9.32 NOG BMP4

Sources for Otosclerosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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