MCID: OTS001
MIFTS: 49

Otosclerosis

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

Aliases & Classifications for Otosclerosis

MalaCards integrated aliases for Otosclerosis:

Name: Otosclerosis 12 74 29 54 15 17 71 32

Classifications:



External Ids:

Disease Ontology 12 DOID:12185
ICD9CM 34 387.8
ICD10 32 H80 H80.80 H80.9
UMLS 71 C0029696 C0029899

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 bone resorption disease 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 Degradation of the extracellular matrix and Human Embryonic Stem Cell Pluripotency. The drugs Acetylcysteine and Risedronate have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and cortex, and related phenotypes are cardiovascular system and craniofacial

Wikipedia : 74 Otosclerosis is a condition where one or more foci of irregularly laid spongy bone replace part of... 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 182)
# Related Disease Score Top Affiliating Genes
1 bone resorption disease 31.7 TNFRSF11B COL1A2 COL1A1 BMP2
2 brittle bone disorder 31.6 TNFRSF11B SERPINF1 COL1A2 COL1A1 BMP2
3 ankylosis 31.6 TNFRSF11B TGFB1 NOG BMP4 BMP2
4 bone disease 31.4 TNFRSF11B NOG COL1A1 BMP2
5 proximal symphalangism 31.0 NOG BMP4 BMP2
6 osteoporosis 30.6 TNFRSF11B TGFB1 SLC26A2 NOG COL1A2 COL1A1
7 synostosis 30.5 NOG BMP4 BMP2
8 tympanosclerosis 30.4 COL1A1 BMP2
9 otosclerosis 1 12.6
10 otosclerosis 10 12.6
11 otosclerosis 2 12.4
12 otosclerosis 3 12.4
13 otosclerosis 5 12.4
14 otosclerosis 4 12.4
15 otosclerosis 7 12.4
16 otosclerosis 8 12.4
17 otosclerosis, familial 12.1
18 buschke-ollendorff syndrome 11.6
19 deafness, progressive, with stapes fixation 11.3
20 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 11.1
21 sensorineural hearing loss 11.0
22 branchiootic syndrome 1 11.0
23 measles 10.7
24 osteogenesis imperfecta, type v 10.7 COL1A2 COL1A1
25 ehlers-danlos/osteogenesis imperfecta syndrome 10.7 COL1A2 COL1A1
26 col1a1/2 osteogenesis imperfecta 10.7 COL1A2 COL1A1
27 high bone mass osteogenesis imperfecta 10.6 COL1A2 COL1A1
28 larsen-like syndrome 10.6 COL1A2 COL1A1
29 familial vesicoureteral reflux 10.6 TGFB1 ACE
30 ehlers-danlos syndrome, arthrochalasia type, 2 10.6 COL1A2 COL1A1
31 type i ehlers-danlos syndrome 10.6 COL1A2 COL1A1
32 brachydactyly, type a1, b 10.6 NOG BMP4 BMP2
33 hyperostosis 10.6 TNFRSF11B TGFB1 COL1A1
34 osteogenesis imperfecta, type vi 10.6 SERPINF1 COL1A2 COL1A1
35 scleroderma, familial progressive 10.6 COL1A2 COL1A1
36 otitis media 10.6
37 van buchem disease 10.6 TNFRSF11B TGFB1 COL1A1
38 bruck syndrome 10.6 SERPINF1 COL1A2 COL1A1
39 bullous keratopathy 10.6 TGFB1 BMP4 BMP2
40 idiopathic nephrotic syndrome 10.6 TGFB1 ACE
41 fibrogenesis imperfecta ossium 10.6 SERPINF1 COL1A2
42 ischemic bone disease 10.6 TNFRSF11B COL1A1 BMP2
43 osteoporosis, juvenile 10.6 TNFRSF11B COL1A2 COL1A1
44 dentinogenesis imperfecta 10.6 SERPINF1 COL1A2 COL1A1
45 fibrodysplasia ossificans progressiva 10.6 NOG BMP4 BMP2
46 posterior urethral valves 10.6 TGFB1 ACE
47 brachydactyly, type a2 10.6 NOG BMP4 BMP2
48 juvenile polyposis syndrome 10.6 NOG BMP4 BMP2
49 diffuse scleroderma 10.6 TGFB1 COL1A2 COL1A1 ACE
50 synovial chondromatosis 10.6 NOG COL1A1 BMP4 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 cardiovascular system MP:0005385 10.1 ACE 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 reproductive system MP:0005389 9.81 ACE BMP2 BMP4 CD46 COL1A1 NOG
5 limbs/digits/tail MP:0005371 9.8 BMP2 BMP4 COL1A1 COL1A2 NOG SLC26A2
6 skeleton MP:0005390 9.65 BMP2 BMP4 COL1A1 COL1A2 NOG RELN
7 vision/eye MP:0005391 9.23 BMP4 CD46 COL1A1 COL1A2 NOG RELN

Drugs & Therapeutics for Otosclerosis

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
2
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
3 Respiratory System Agents Phase 4
4 Anti-Infective Agents Phase 4
5 Antidotes Phase 4
6 Antioxidants Phase 4
7 Antiviral Agents Phase 4
8 Expectorants Phase 4
9 Protective Agents Phase 4
10 N-monoacetylcystine Phase 4
11 Hormones Phase 4
12 Diphosphonates Phase 4
13 Calcium, Dietary Phase 4
14 calcium channel blockers Phase 4
15
Calcium Nutraceutical Phase 4 7440-70-2 271
16
tiludronate Approved, Investigational, Vet_approved Phase 3 89987-06-4 60937
17
Zoledronic Acid Approved 118072-93-8 68740
18
Lidocaine Approved, Vet_approved 137-58-6 3676
19
Epinephrine Approved, Vet_approved 51-43-4 5816
20
Racepinephrine Approved 329-65-7 838
21 Narcotics
22 Anesthetics, General
23 Epinephryl borate
24 Anesthetics
25 Anesthetics, Local

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Acetylcystein Vid Stapedotomi Completed NCT00525551 Phase 4 Acetylcysteine;Placebo (NaCl)
2 Effects of Bisphosphonates on OI-Related Hearing Loss: A Pilot Study Recruiting NCT04152551 Phase 4 Risedronate Oral Tablet
3 Therapeutic Efficacy of Tiludronic Acid on Inner Ear Involvement in Advanced Otosclerosis Terminated NCT01617057 Phase 3 tiludronic acid;Placebo
4 Audiometric Parameters in Conductive Hearing Loss and Middle Ear Disease Unknown status NCT00222417
5 Taste Disorders in Middle Ear Disease and After Middle Ear Surgery Unknown status NCT01584011
6 Molecular Genetic Study of Suspected Cases of Osteogenesis Imperfecta Attending Assiut University Children Hospital Unknown status NCT03169192 Zoledronic Acid
7 Efficacy of Treatment for Tinnitus Based on Cognitive Behavioural Therapy in an Inpatient Setting: a 10-year Retrospective Outcome Analysis Unknown status NCT02632058
8 Hearing Aid Versus Surgical Rehabilitation as Treatment of Otosclerosis: Pilot Study Completed NCT02456272
9 Early Postoperative Imaging of the Labyrinth by Cone Beam CT After Stapes Surgery for Otosclerosis With Correlation to Audiovestibular Outcome Completed NCT02901093
10 Study of Binaural Squelch Effect Among Patients Undergoing Unilateral Otosclerosis Surgery: Comparison of Understanding in Noise Before-after Surgery Completed NCT03587792
11 Cone Beam CT (CS 9300) for Diagnosis of Select Otorhinolaryngology (ENT) Indications at Lower Dose Completed NCT01855425
12 Messung Der Beweglichkeit Der Gehörknöchelchenkette während Einer Ohroperation. ("Objective Measurements of Ossicular Chain Mobility Using a Palpating Instrument Intraoperatively") Completed NCT02554422
13 Clinical Validation of the Nucleus® CP810 Sound Processor for the Codacs™ System Completed NCT02156167
14 Subjektiv Verzerrter Höreindruck Nach Stapedotomie Completed NCT02245646
15 Comprehensive Wide Bandwidth Test Battery of Auditory Function in Veterans Completed NCT02019888
16 Comparison of Cone Beam With CT Scan for the Diagnosis of Otosclerosis Recruiting NCT02435446
17 Patient Satisfaction After Surgery for Otosclerosis Under Local ou General Anesthesia Recruiting NCT03888079 Local anesthetic;general anesthetic
18 Implantation of Trans-tympanic Aerator Using a Robotic Microsurgical Assistance Tool Active, not recruiting NCT03569943

Search NIH Clinical Center for Otosclerosis

Genetic Tests for Otosclerosis

Genetic tests related to Otosclerosis:

# Genetic test Affiliating Genes
1 Otosclerosis 29

Anatomical Context for Otosclerosis

MalaCards organs/tissues related to Otosclerosis:

40
Bone, Testes, Cortex, Skin, Adrenal Cortex, Eye, Brain

Publications for Otosclerosis

Articles related to Otosclerosis:

(show top 50) (show all 3462)
# Title Authors PMID Year
1
Otosclerosis or congenital stapes ankylosis? The diagnostic role of genetic analysis. 61 54
19471170 2009
2
Genetics of otosclerosis. 61 54
19546831 2009
3
Detection of rare nonsynonymous variants in TGFB1 in otosclerosis patients. 54 61
19207109 2009
4
Otosclerosis and TGF-beta 1 gene in black South Africans. 61 54
19113055 2008
5
Association of bone morphogenetic proteins with otosclerosis. 61 54
18021008 2008
6
Medical treatment of otosclerosis: rationale for use of bisphosphonates. 54 61
19205157 2008
7
The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations. 54 61
17588962 2007
8
Clinical and genetic analysis of two Tunisian otosclerosis families. 61 54
17568407 2007
9
Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis. 61 54
17489845 2007
10
Current research in otosclerosis. 61 54
16974150 2006
11
Glucocorticoids inhibit diastrophic dysplasia sulfate transporter activity in otosclerosis by interleukin-6. 61 54
16954997 2006
12
Monogenic nonsyndromic otosclerosis: audiological and linkage analysis in a large Greek pedigree. 61 54
16168495 2006
13
Effect of 17 beta-estradiol on diastrophic dysplasia sulfate transporter activity in otosclerotic bone cell cultures and SaOS-2 cells. 61 54
15513522 2004
14
Association between osteoporosis and otosclerosis in women. 54 61
15453937 2004
15
Association of otosclerosis with Sp1 binding site polymorphism in COL1A1 gene: evidence for a shared genetic etiology with osteoporosis. 61 54
15241219 2004
16
Proposed association between the COL1A1 and COL1A2 genes and otosclerosis is not supported by a case-control study in Spain. 61 54
15211650 2004
17
Increased activity of the diastrophic dysplasia sulfate transporter in otosclerosis and its inhibition by sodium fluoride. 61 54
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. 61 54
12089654 2002
19
Similar COL1A1 expression in fibroblasts from some patients with clinical otosclerosis and those with type I osteogenesis imperfecta. 61 54
11860074 2002
20
Association of COL1A1 and otosclerosis: evidence for a shared genetic etiology with mild osteogenesis imperfecta. 61 54
9752968 1998
21
Phenotype of in vitro human otosclerotic cells and its modulation by TGF beta. 54 61
8747085 1995
22
Antibodies to the minor cartilage collagen type IX in otosclerosis. 61 54
8172305 1994
23
The Cochlear Cleft: CT Correlation With Histopathology. 61
32221113 2020
24
Double challenge: cochlear implantation in the only hearing ear with progressive hearing loss following meningitis and vestibular dysfunction after implantation. 61
32440270 2020
25
The first direct acoustic middle-ear implantation in Hungary 61
32469843 2020
26
Endoscopic Management of Malleus Head Fixation in Revision Stapes Surgery. 61
32080028 2020
27
Subjective Visual Vertical Testing in Patients With Chronic Suppurative Otitis Media. 61
32571144 2020
28
Changes of incudostapedial joint angle in stapedotomy: does it impact hearing outcomes? 61
32524207 2020
29
Laser vs drill for footplate fenestration during stapedotomy: a systematic review and meta-analysis of hearing results. 61
32535861 2020
30
Evaluation of the Genetic Association and mRNA Expression of the COL1A1, BMP2, and BMP4 Genes in the Development of Otosclerosis. 61
32379989 2020
31
Measurement of Wideband Absorbance as a Test for Otosclerosis. 61
32570989 2020
32
OTOPLAN in Cochlear Implantation for Far-Advanced Otosclerosis. 61
32569151 2020
33
Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysis. 61
32493243 2020
34
Stapes Surgery Outcomes in Patients With Concurrent Otosclerosis and Superior Semicircular Canal Dehiscence. 61
32472923 2020
35
Microdrill stapedotomy for otosclerosis with small and large preoperative air-bone gap: a retrospective comparison of results. 61
32432490 2020
36
Cochlear Implant Performance in Adult Patients with Absent Intraoperative Electrically Evoked Compound Action Potentials. 61
32122228 2020
37
Frequency-specific hearing results after stapes surgery for Chinese population otosclerosis with different degrees of hearing loss. 61
32068480 2020
38
Effect of CO2 laser for the management of primary otosclerosis: A protocol for systematic review and meta-analysis. 61
32481424 2020
39
Role of MRI as first-line modality in the detection of previously undiagnosed otosclerosis: a single tertiary institute experience. 61
32430577 2020
40
Robot-based assistance in middle ear surgery and cochlear implantation: first clinical report. 61
32458123 2020
41
Clinical aspects of otosclerotic ossicular chain fixations. 61
32365050 2020
42
Factors Influencing Aberrant Facial Nerve Stimulation Following Cochlear Implantation: A Systematic Review and Meta-Analysis. 61
32558747 2020
43
Availability of audiological evaluation for the differential diagnosis of clinical otosclerosis. 61
32370914 2020
44
Sensitivity of High-Resolution Computed Tomography in Otosclerosis Patients undergoing Primary Stapedotomy. 61
32432485 2020
45
GPER-1 and sex-hormone levels in patients with otosclerosis. 61
32144019 2020
46
Otosclerosis: Experience With Stapes Surgery. 61
32499972 2020
47
Otosclerosis surgery: Assessment of patient comfort. 61
31734143 2020
48
The Size of Internal Auditory Canal Diverticula Is Unrelated to Degree of Hearing Loss. 61
31233221 2020
49
[The comparison of malleostapedotomy in primary and revision stapes surgery for otosclerosis]. 61
32306629 2020
50
MRI evaluation of the endolymphatic space in otosclerosis and correlation with clinical findings. 61
32253140 2020

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 TNFRSF11B TGFB1 SERPINF1 RELN NOG COL1A2
2 extracellular matrix GO:0031012 9.55 TNFRSF11B TGFB1 RELN COL1A2 COL1A1
3 extracellular space GO:0005615 9.32 TNFRSF11B TGFB1 SERPINF1 RELN NOG COL1A2
4 collagen type I trimer GO:0005584 8.96 COL1A2 COL1A1

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

(show top 50) (show all 54)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.08 TGFB1 NOG CD46 BMP4 BMP2
2 positive regulation of cell migration GO:0030335 9.99 TGFB1 COL1A1 BMP4 BMP2
3 wound healing GO:0042060 9.88 TGFB1 NOG COL1A1
4 neural tube closure GO:0001843 9.87 TGFB1 NOG BMP4
5 cartilage development GO:0051216 9.86 NOG BMP4 BMP2
6 cellular response to growth factor stimulus GO:0071363 9.84 TGFB1 BMP4 BMP2
7 positive regulation of protein binding GO:0032092 9.83 BMP4 BMP2 ACE
8 positive regulation of epithelial cell proliferation GO:0050679 9.82 TGFB1 NOG BMP4
9 blood vessel development GO:0001568 9.82 COL1A2 COL1A1 BMP4
10 SMAD protein signal transduction GO:0060395 9.81 TGFB1 BMP4 BMP2
11 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.78 TGFB1 BMP4 BMP2
12 negative regulation of cell cycle GO:0045786 9.77 TGFB1 BMP4 BMP2
13 chondrocyte differentiation GO:0002062 9.77 TGFB1 BMP4 BMP2
14 epithelial to mesenchymal transition GO:0001837 9.76 TGFB1 NOG BMP2
15 embryonic skeletal system development GO:0048706 9.75 NOG COL1A1 BMP4
16 ureteric bud development GO:0001657 9.74 TGFB1 NOG BMP4
17 osteoblast differentiation GO:0001649 9.73 NOG COL1A1 BMP4 BMP2
18 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.72 TGFB1 NOG
19 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.72 TGFB1 BMP4 BMP2
20 anatomical structure formation involved in morphogenesis GO:0048646 9.71 NOG BMP4
21 endocardial cushion morphogenesis GO:0003203 9.71 NOG BMP2
22 positive regulation of cartilage development GO:0061036 9.71 BMP4 BMP2
23 positive regulation of ossification GO:0045778 9.71 BMP4 BMP2
24 positive regulation of SMAD protein signal transduction GO:0060391 9.71 TGFB1 BMP4
25 positive regulation of bone mineralization GO:0030501 9.71 TGFB1 BMP4 BMP2
26 ossification GO:0001503 9.71 SLC26A2 COL1A1 BMP4 BMP2
27 pathway-restricted SMAD protein phosphorylation GO:0060389 9.7 TGFB1 BMP2
28 response to arsenic-containing substance GO:0046685 9.7 TNFRSF11B SERPINF1
29 positive regulation of regulatory T cell differentiation GO:0045591 9.7 TGFB1 CD46
30 cellular response to BMP stimulus GO:0071773 9.7 NOG BMP4 BMP2
31 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.69 TGFB1 BMP4
32 skin morphogenesis GO:0043589 9.68 COL1A2 COL1A1
33 extracellular matrix assembly GO:0085029 9.68 TGFB1 COL1A2
34 embryonic skeletal joint morphogenesis GO:0060272 9.67 NOG BMP4
35 mesenchymal cell differentiation GO:0048762 9.67 NOG BMP2
36 membranous septum morphogenesis GO:0003149 9.67 NOG BMP4
37 regulation of protein import into nucleus GO:0042306 9.65 TGFB1 BMP4
38 pharyngeal arch artery morphogenesis GO:0061626 9.65 NOG BMP4
39 face morphogenesis GO:0060325 9.65 TGFB1 NOG COL1A1
40 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.63 BMP4 BMP2
41 telencephalon regionalization GO:0021978 9.63 BMP4 BMP2
42 endoderm development GO:0007492 9.63 TGFB1 NOG BMP4
43 BMP signaling pathway involved in heart development GO:0061312 9.62 NOG BMP4
44 common-partner SMAD protein phosphorylation GO:0007182 9.62 TGFB1 BMP4
45 regulation of cartilage development GO:0061035 9.61 TGFB1 BMP4
46 positive regulation of odontogenesis GO:0042482 9.56 TGFB1 BMP2
47 BMP signaling pathway GO:0030509 9.56 TGFB1 NOG BMP4 BMP2
48 regulation of pri-miRNA transcription by RNA polymerase II GO:1902893 9.51 TGFB1 BMP4
49 negative regulation of gene expression GO:0010629 9.5 TGFB1 SERPINF1 NOG CD46 BMP4 BMP2
50 mesenchymal cell proliferation involved in ureteric bud development GO:0072138 9.49 BMP4 BMP2

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

# Name GO ID Score Top Affiliating Genes
1 BMP receptor binding GO:0070700 9.26 BMP4 BMP2
2 co-receptor binding GO:0039706 9.16 BMP4 BMP2
3 platelet-derived growth factor binding GO:0048407 8.96 COL1A2 COL1A1
4 cytokine activity GO:0005125 8.92 TNFRSF11B TGFB1 BMP4 BMP2

Sources for Otosclerosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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