MCID: OTS001
MIFTS: 50

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 43 15 17 71 32

Classifications:



External Ids:

Disease Ontology 12 DOID:12185
ICD9CM 34 387.8
MeSH 43 D010040
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 181)
# 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 31.3 TNFRSF11B NOG COL1A1 BMP2
5 proximal symphalangism 31.0 NOG BMP4 BMP2
6 diastrophic dysplasia 31.0 TGFB1 SLC26A2 BMP2
7 collagen disease 30.9 COL1A2 COL1A1 ACE
8 tympanosclerosis 30.7 COL1A1 BMP2
9 osteoporosis 30.6 TNFRSF11B TGFB1 SLC26A2 NOG COL1A2 COL1A1
10 otosclerosis 1 12.6
11 otosclerosis 10 12.6
12 otosclerosis 2 12.4
13 otosclerosis 3 12.4
14 otosclerosis 5 12.4
15 otosclerosis 4 12.4
16 otosclerosis 7 12.4
17 otosclerosis 8 12.4
18 otosclerosis, familial 12.1
19 buschke-ollendorff syndrome 11.6
20 deafness, progressive, with stapes fixation 11.2
21 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 11.1
22 sensorineural hearing loss 11.0
23 branchiootic syndrome 1 11.0
24 measles 10.7
25 osteogenesis imperfecta, type v 10.7 COL1A2 COL1A1
26 ehlers-danlos/osteogenesis imperfecta syndrome 10.7 COL1A2 COL1A1
27 arthrochalasia ehlers-danlos syndrome 10.7 COL1A2 COL1A1
28 col1a1/2 osteogenesis imperfecta 10.7 COL1A2 COL1A1
29 high bone mass osteogenesis imperfecta 10.7 COL1A2 COL1A1
30 larsen-like syndrome 10.6 COL1A2 COL1A1
31 familial vesicoureteral reflux 10.6 TGFB1 ACE
32 type i ehlers-danlos syndrome 10.6 COL1A2 COL1A1
33 brachydactyly, type a1, b 10.6 NOG BMP4 BMP2
34 fibrogenesis imperfecta ossium 10.6 COL1A2 COL1A1
35 osteogenesis imperfecta, type vi 10.6 SERPINF1 COL1A2 COL1A1
36 osseous heteroplasia, progressive 10.6 NOG BMP4 BMP2
37 van buchem disease 10.6 TNFRSF11B TGFB1 COL1A1
38 bullous keratopathy 10.6 TGFB1 BMP4 BMP2
39 pelvic organ prolapse 10.6 TGFB1 COL1A2 COL1A1
40 bruck syndrome 10.6 SERPINF1 COL1A2 COL1A1
41 scleroderma, familial progressive 10.6 COL1A2 COL1A1
42 brachydactyly, type a2 10.6 NOG BMP4 BMP2
43 osteoporosis, juvenile 10.6 TNFRSF11B COL1A2 COL1A1
44 dentinogenesis imperfecta 10.6 SERPINF1 COL1A2 COL1A1
45 carpal tunnel syndrome 10.6 TGFB1 COL1A1 ACE
46 bone structure disease 10.6 COL1A2 COL1A1 BMP2
47 diffuse scleroderma 10.6 TGFB1 COL1A2 COL1A1 ACE
48 juvenile polyposis syndrome 10.6 NOG BMP4 BMP2
49 posterior urethral valves 10.6 TGFB1 ACE
50 otitis media 10.6

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 10.07 ACE BMP2 BMP4 CD46 COL1A1 COL1A2
2 craniofacial MP:0005382 9.87 BMP2 BMP4 COL1A1 NOG SLC26A2 TGFB1
3 digestive/alimentary MP:0005381 9.8 BMP2 BMP4 COL1A1 NOG RELN SERPINF1
4 limbs/digits/tail MP:0005371 9.7 BMP2 BMP4 COL1A1 COL1A2 NOG SLC26A2
5 reproductive system MP:0005389 9.61 ACE BMP2 BMP4 CD46 COL1A1 NOG
6 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 27)
# 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
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
4 Anti-Infective Agents Phase 4
5 Free Radical Scavengers Phase 4
6 Antiviral Agents Phase 4
7 N-monoacetylcystine Phase 4
8 Respiratory System Agents Phase 4
9 Antioxidants Phase 4
10 Protective Agents Phase 4
11 Antidotes Phase 4
12 Expectorants Phase 4
13 Diphosphonates Phase 4
14 Calcium, Dietary Phase 4
15 calcium channel blockers Phase 4
16 Hormones Phase 4
17
tiludronate Approved, Investigational, Vet_approved Phase 3 89987-06-4 60937
18
Zoledronic Acid Approved 118072-93-8 68740
19
Epinephrine Approved, Vet_approved 51-43-4 5816
20
Lidocaine Approved, Vet_approved 137-58-6 3676
21
Racepinephrine Approved 329-65-7 838
22 Narcotics
23 Anesthetics, Local
24 Epinephryl borate
25 Anesthetics
26 Central Nervous System Depressants
27 Anesthetics, General

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 Not yet 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 Cone Beam CT (CS 9300) for Diagnosis of Select Otorhinolaryngology (ENT) Indications at Lower Dose Completed NCT01855425
11 Messung Der Beweglichkeit Der Gehörknöchelchenkette während Einer Ohroperation. ("Objective Measurements of Ossicular Chain Mobility Using a Palpating Instrument Intraoperatively") Completed NCT02554422
12 Clinical Validation of the Nucleus® CP810 Sound Processor for the Codacs™ System Completed NCT02156167
13 Subjektiv Verzerrter Höreindruck Nach Stapedotomie Completed NCT02245646
14 Comparison of Cone Beam With CT Scan for the Diagnosis of Otosclerosis Recruiting NCT02435446
15 Patient Satisfaction After Surgery for Otosclerosis Under Local ou General Anesthesia Recruiting NCT03888079 Local anesthetic;general anesthetic
16 Study of Binaural Squelch Effect Among Patients Undergoing Unilateral Otosclerosis Surgery: Comparison of Understanding in Noise Before-after Surgery Recruiting NCT03587792
17 Implantation of Trans-tympanic Aerator Using a Robotic Microsurgical Assistance Tool Active, not recruiting NCT03569943
18 Comprehensive Wide Bandwidth Test Battery of Auditory Function in Veterans Enrolling by invitation NCT02019888

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 29

Anatomical Context for Otosclerosis

MalaCards organs/tissues related to Otosclerosis:

40
Bone, Testes, Cortex, Skin, T Cells, Adrenal Cortex, Eye

Publications for Otosclerosis

Articles related to Otosclerosis:

(show top 50) (show all 3423)
# Title Authors PMID Year
1
Otosclerosis or congenital stapes ankylosis? The diagnostic role of genetic analysis. 54 61
19471170 2009
2
Genetics of otosclerosis. 54 61
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. 54 61
19113055 2008
5
Association of bone morphogenetic proteins with otosclerosis. 54 61
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. 54 61
17568407 2007
9
Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis. 54 61
17489845 2007
10
Current research in otosclerosis. 54 61
16974150 2006
11
Glucocorticoids inhibit diastrophic dysplasia sulfate transporter activity in otosclerosis by interleukin-6. 54 61
16954997 2006
12
Monogenic nonsyndromic otosclerosis: audiological and linkage analysis in a large Greek pedigree. 54 61
16168495 2006
13
Effect of 17 beta-estradiol on diastrophic dysplasia sulfate transporter activity in otosclerotic bone cell cultures and SaOS-2 cells. 54 61
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. 54 61
15241219 2004
16
Proposed association between the COL1A1 and COL1A2 genes and otosclerosis is not supported by a case-control study in Spain. 54 61
15211650 2004
17
Increased activity of the diastrophic dysplasia sulfate transporter in otosclerosis and its inhibition by sodium fluoride. 54 61
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. 54 61
12089654 2002
19
Similar COL1A1 expression in fibroblasts from some patients with clinical otosclerosis and those with type I osteogenesis imperfecta. 54 61
11860074 2002
20
Association of COL1A1 and otosclerosis: evidence for a shared genetic etiology with mild osteogenesis imperfecta. 54 61
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. 54 61
8172305 1994
23
Correlation Between Electrocochleographic Changes During Surgery and Hearing Outcome in Cochlear Implant Recipients: A Case Report and Systematic Review of the Literature. 61
31834213 2020
24
Rhythmic Wave Patterns on Ambient Pressure Tympanometry in Patients With Objective Tinnitus-associated Pathologies. 61
31868782 2020
25
A Case Series of Patients With Concurrent Otosclerosis and Superior Semicircular Canal Dehiscence. 61
31688614 2020
26
Prospective evaluation of disease-specific quality of life measurements after stapes surgery using Nitinol Head Prostheses. 61
31760470 2020
27
Stapedotomy with incus vibroplasty - A novel surgical solution of advanced otosclerosis and its place among existing therapeutic modalities - Hungarian single institutional experiences. 61
31079859 2020
28
Endoscopic stapedotomy: safety and audiological results in 150 patients. 61
31624863 2020
29
Otosclerosis revision surgery in Sweden: hearing outcome, predictive factors and complications. 61
31549194 2020
30
Pediatric otosyphilis-An unusual cause of conductive hearing loss. 61
31737149 2020
31
Evaluation of Artificial Fixation of the Incus and Malleus With Minimally Invasive Intraoperative Laser Vibrometry (MIVIB) in a Temporal Bone Model. 61
31664003 2020
32
Incidence of Congenital Stapes Footplate Fixation Since 1970: A Population-based Study. 61
31939909 2020
33
Early Assessment of Vestibular Function after Unilateral Cochlear Implant Surgery. 61
31505507 2020
34
Results of stapedotomy in otosurgical treatment of adult patients with osteogenesis imperfecta. 61
31006558 2019
35
[Otosclerosis. 2nd part. Diagnosis]. 61
31838860 2019
36
Promontory osteoma mimicking otosclerosis: case report. 61
31558169 2019
37
Stapes Surgery for 121 Patients With Mixed Hearing Loss. 61
31865772 2019
38
Psychometric properties of the Swedish version of the Glasgow Benefit Inventory in otosclerosis subjects. 61
31890887 2019
39
Finite element analysis of round-window stimulation of the cochlea in patients with stapedial otosclerosis. 61
31893738 2019
40
Double Ring in Cochlear Otosclerosis: A Limit to Cochlear Implantation? The Solution Is the Surgical Approach. 61
31842623 2019
41
Surgical treatment of otosclerosis leading to changes in postural control and quality of life. 61
31804726 2019
42
Predictors of hearing outcomes after stapes surgery in otosclerosis. 61
31617779 2019
43
High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature. 61
31841439 2019
44
Office-Based Stapes Surgery. 61
31570044 2019
45
Protocol for a validation study of the translated stapesplasty outcome test 25 for measurement of disease-specific quality of life in Dutch patients with otosclerosis. 61
31826888 2019
46
The Correlation Between Petrous Part of the Temporal Bone Density and the Internal Auditory Canal Diameter in Sensorineural Hearing Loss Patients with Chronic Renal Failure. 61
31750231 2019
47
Comparison of Ossiculoplasty Using Autograft Ossicle Versus Allograft (Teflon). 61
31750170 2019
48
A Clinico-Radiological Study: Veria Technique of Cochlear Implant-A Study of 50 Cases. 61
31750216 2019
49
Otosclerosis surgery: Assessment of patient comfort. 61
31734143 2019
50
Cost-effectiveness of Stapedectomy vs Hearing Aids in the Treatment of Otosclerosis. 61
31697352 2019

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 57)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.07 TGFB1 NOG CD46 BMP4 BMP2
2 positive regulation of cell migration GO:0030335 10 TGFB1 COL1A1 BMP4 BMP2
3 kidney development GO:0001822 9.9 SERPINF1 BMP4 ACE
4 wound healing GO:0042060 9.89 TGFB1 NOG COL1A1
5 neural tube closure GO:0001843 9.87 TGFB1 NOG BMP4
6 cartilage development GO:0051216 9.87 NOG BMP4 BMP2
7 cellular response to growth factor stimulus GO:0071363 9.84 TGFB1 BMP4 BMP2
8 positive regulation of protein binding GO:0032092 9.84 BMP4 BMP2 ACE
9 positive regulation of epithelial cell proliferation GO:0050679 9.83 TGFB1 NOG BMP4
10 regulation of MAPK cascade GO:0043408 9.83 TGFB1 BMP4 BMP2
11 SMAD protein signal transduction GO:0060395 9.82 TGFB1 BMP4 BMP2
12 cell development GO:0048468 9.81 TGFB1 BMP4 BMP2
13 blood vessel development GO:0001568 9.79 COL1A2 COL1A1 BMP4
14 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.79 TGFB1 BMP4 BMP2
15 negative regulation of cell cycle GO:0045786 9.78 TGFB1 BMP4 BMP2
16 embryonic skeletal system development GO:0048706 9.77 NOG COL1A1 BMP4
17 ureteric bud development GO:0001657 9.75 TGFB1 NOG BMP4
18 chondrocyte differentiation GO:0002062 9.74 TGFB1 BMP4 BMP2
19 epithelial to mesenchymal transition GO:0001837 9.73 TGFB1 NOG BMP2
20 osteoblast differentiation GO:0001649 9.73 NOG COL1A1 BMP4 BMP2
21 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.72 TGFB1 NOG
22 anatomical structure formation involved in morphogenesis GO:0048646 9.72 NOG BMP4
23 endocardial cushion morphogenesis GO:0003203 9.72 NOG BMP2
24 positive regulation of bone mineralization GO:0030501 9.72 TGFB1 BMP4 BMP2
25 positive regulation of cartilage development GO:0061036 9.71 BMP4 BMP2
26 positive regulation of ossification GO:0045778 9.71 BMP4 BMP2
27 pathway-restricted SMAD protein phosphorylation GO:0060389 9.71 TGFB1 BMP2
28 response to arsenic-containing substance GO:0046685 9.71 TNFRSF11B SERPINF1
29 cellular response to BMP stimulus GO:0071773 9.71 NOG BMP4 BMP2
30 positive regulation of SMAD protein signal transduction GO:0060391 9.7 TGFB1 BMP4
31 positive regulation of regulatory T cell differentiation GO:0045591 9.7 TGFB1 CD46
32 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.69 TGFB1 BMP4
33 extracellular matrix assembly GO:0085029 9.69 TGFB1 COL1A2
34 embryonic skeletal joint morphogenesis GO:0060272 9.68 NOG BMP4
35 mesenchymal cell differentiation GO:0048762 9.68 NOG BMP2
36 membranous septum morphogenesis GO:0003149 9.68 NOG BMP4
37 skin morphogenesis GO:0043589 9.68 COL1A2 COL1A1
38 regulation of protein import into nucleus GO:0042306 9.67 TGFB1 BMP4
39 face morphogenesis GO:0060325 9.67 TGFB1 NOG COL1A1
40 pharyngeal arch artery morphogenesis GO:0061626 9.66 NOG BMP4
41 endoderm development GO:0007492 9.65 TGFB1 NOG BMP4
42 telencephalon regionalization GO:0021978 9.64 BMP4 BMP2
43 BMP signaling pathway involved in heart development GO:0061312 9.63 NOG BMP4
44 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.63 BMP4 BMP2
45 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.63 TGFB1 BMP4 BMP2
46 common-partner SMAD protein phosphorylation GO:0007182 9.62 TGFB1 BMP4
47 ossification GO:0001503 9.62 SLC26A2 COL1A1 BMP4 BMP2
48 regulation of cartilage development GO:0061035 9.59 TGFB1 BMP4
49 positive regulation of odontogenesis GO:0042482 9.58 TGFB1 BMP2
50 BMP signaling pathway GO:0030509 9.56 TGFB1 NOG BMP4 BMP2

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.46 TNFRSF11B TGFB1 BMP4 BMP2
2 co-receptor binding GO:0039706 9.32 BMP4 BMP2
3 platelet-derived growth factor binding GO:0048407 9.26 COL1A2 COL1A1
4 BMP receptor binding GO:0070700 8.96 BMP4 BMP2
5 transforming growth factor beta receptor binding GO:0005160 8.8 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
Content
Loading form....