MCID: OTS001
MIFTS: 46

Otosclerosis malady

Genetic diseases, Ear diseases, Rare diseases categories

Aliases & Classifications for Otosclerosis

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Sources:
9Disease Ontology, 20GeneTests, 11DISEASES, 43Novoseek, 22GTR, 60UMLS, 33MeSH, 55SNOMED-CT, 27ICD9CM, 25ICD10
See all sources

Otosclerosis, Aliases & Descriptions:

Name: Otosclerosis 9 20 11 43 22 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Ear diseases


External Ids:

Disease Ontology9 DOID:12185
MeSH33 D010040
ICD9CM27 387.8
ICD1025 H80, H80.9

Summaries for Otosclerosis

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Wikipedia:63 Otosclerosis is an abnormal growth of bone near the middle ear. It can result in hearing loss. more...

MalaCards based summary: Otosclerosis is related to ankylosis and ehlers-danlos syndrome. An important gene associated with Otosclerosis is COL1A2 (collagen, type I, alpha 2), and among its related pathways are TGF-beta Signaling Pathway and TGF-beta Signaling Pathway. The compounds mithramycin and nppa have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and eye, and related mouse phenotypes are hearing/vestibular/ear and muscle.

Disease Ontology:9 A labyrinthine disease characterized by an abnormal bone growth in the middle ear.

Related Diseases for Otosclerosis

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Diseases in the Otosclerosis family:

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

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

(show top 50)    (show all 58)
idRelated DiseaseScoreTop Affiliating Genes
1ankylosis30.8NOG
2ehlers-danlos syndrome30.2COL1A2, COL1A1
3osteogenesis imperfecta30.2COL1A2, COL1A1
4osteogenesis imperfecta, type i30.1COL1A2, COL1A1
5osteoporosis30.1TNFRSF11B, COL1A1
6osteogenesis imperfecta, type iv30.1COL1A2, COL1A1
7measles10.5
8otosclerosis 110.5
9otosclerosis 310.4
10sensorineural hearing loss10.4
11otosclerosis 210.4
12otosclerosis, familial10.4
13otosclerosis 710.3
14otosclerosis 810.3
15otosclerosis 410.3
16otosclerosis 1010.3
17otosclerosis 510.3
18endolymphatic hydrops10.3
19col1a1/2-related osteogenesis imperfecta10.2COL1A2, COL1A1
20osteogenesis imperfecta, type ii10.1COL1A2, COL1A1
21osteogenesis imperfecta, type iii10.1COL1A1, COL1A2
22ehlers-danlos syndrome, type i10.1COL1A1, COL1A2
23dentinogenesis imperfecta10.1COL1A2, COL1A1
24systemic scleroderma10.1COL1A2, COL1A1
25diastrophic dysplasia10.1
26neuroma10.1
27otitis media10.1
28gingival overgrowth10.0TGFB1, COL1A1
29connective tissue disease10.0COL1A2, COL1A1
30glomerulosclerosis10.0TGFB1, COL1A2
31cystic fibrosis10.0COL1A2, TNFRSF11B
32pulmonary disease, chronic obstructive10.0COL1A1, TGFB1
33charge syndrome9.9
34chondrosarcoma9.9
35melkersson-rosenthal syndrome9.9
36buschke-ollendorff syndrome9.9
37obsessive-compulsive disorder9.9
38camurati-engelmann disease9.9
39fabry disease9.9
40spinal stenosis9.9
41esophageal atresia9.9
42acoustic neuroma9.9
43urticaria pigmentosa9.9
44cholesteatoma9.9
45esophagitis9.9
46exostosis9.9
47labyrinthitis9.9
48meniere's disease9.9
49middle ear disease9.9
50suppurative otitis media9.9

Graphical network of the top 20 diseases related to Otosclerosis:



Diseases related to otosclerosis

Symptoms for Otosclerosis

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Drugs & Therapeutics for Otosclerosis

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Drug clinical trials:

Search ClinicalTrials for Otosclerosis

Search NIH Clinical Center for Otosclerosis

Genetic Tests for Otosclerosis

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Genetic tests related to Otosclerosis:

id Genetic test Affiliating Genes
1 Otosclerosis20 22

Anatomical Context for Otosclerosis

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MalaCards organs/tissues related to Otosclerosis:

31
Bone, Testes, Eye, Cortex, T cells

Animal Models for Otosclerosis or affiliated genes

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Publications for Otosclerosis

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Articles related to Otosclerosis:

(show top 50)    (show all 520)
idTitleAuthorsYear
1
Analysis of the Hyalinization Reaction in Otosclerosis. (24744179)
2014
2
Evaluation of vascular activity in otosclerosis by laser Doppler flowmetry: comparison with computed tomographic densitometry. (24136322)
2013
3
Outcome of management of otosclerosis by stapedotomy compared to stapedectomy in a jordanian population. (23386943)
2013
4
The role of imaging in the diagnosis and management of otosclerosis. (23921926)
2013
5
Are computed tomography and densitometric measurements useful in otosclerosis with mixed hearing loss? A retrospective clinical study. (24096812)
2013
6
Comments on 'Stapes surgery in profound hearing loss due to otosclerosis'. (23444485)
2013
7
Predictors of listening capabilities and patient satisfaction after stapes surgery in otosclerosis. (23295729)
2013
8
Oval window niche height: quantitative evaluation with CT before stapes surgery for otosclerosis. (23179652)
2013
9
Mild form of treacher collins syndrome imitating juvenile otosclerosis. (22953143)
2012
10
Functional hearing results in patients with otosclerosis before and after stapedotomy. (22452241)
2012
11
Evolution of otosclerosis to cochlear implantation. (22425206)
2012
12
Phenotype of the first otosclerosis family linked to OTSC10. (21433022)
2011
13
New bone formation in patients with cochlear implants and otosclerosis. (21892123)
2011
14
Primary stapes surgery in patients with otosclerosis: prediction of postoperative outcome. (21768405)
2011
15
Superior canal dehiscence in a patient with three failed stapedectomy operations for otosclerosis: a case report. (21291515)
2011
16
Otosclerosis 2: the medical management of otosclerosis. (20089010)
2010
17
Results of stapedotomy in otosclerosis with severe and profound hearing loss. (20470668)
2010
18
No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population. (19503013)
2009
19
Superior semicircular canal dehiscence: prevalence in a population with clinical suspected otosclerosis-type hearing loss. (19670595)
2009
20
Variations in the "Carhart notch" and overclosure after laser-assisted stapedotomy in otosclerosis. (18957900)
2009
21
Audiological evaluation of patients with otosclerosis. (17245032)
2007
22
Otosclerosis of the incus. (17414034)
2007
23
No evidence of linkage between 7q33-36 locus (OTSC2) and otosclerosis in seven British Caucasian pedigrees. (17908356)
2007
24
Distortion product otoacoustic emissions in otosclerosis: intraoperative findings. (17245034)
2007
25
Far-advanced otosclerosis and cochlear implantation. (17685047)
2007
26
Vestibular-evoked myogenic potentials in patients with otosclerosis using air- and bone-conducted tone-burst stimulation. (17106429)
2007
27
Molecular biology of otosclerosis. (17245026)
2007
28
Revision cochlear implantation for facial nerve stimulation in otosclerosis. (16618909)
2006
29
Quantification of angiogenesis in otosclerosis. (15867645)
2005
30
Outcome of stapes surgery for otosclerosis. (15559166)
2004
31
Fenestral and cochlear otosclerosis. (15174809)
2004
32
Association of otosclerosis with Sp1 binding site polymorphism in COL1A1 gene: evidence for a shared genetic etiology with osteoporosis. (15241219)
2004
33
Characteristics and postoperative course of tinnitus in otosclerosis. (12544028)
2003
34
Otosclerosis and chronic tinnitus. (12784976)
2003
35
The anterior and superior malleal ligaments in otosclerosis: a histopathologic observation. (12438846)
2002
36
Prevalence of otosclerosis in an unselected series of temporal bones. (11568664)
2001
37
Imaging quiz case 1. Displaced stapes prosthesis; otosclerosis. (9932597)
1999
38
Hearing results in otosclerosis surgery after partial stapedectomy, total stapedectomy and stapedotomy. (9039488)
1997
39
Imaging case of the month: cochlear otosclerosis. (9149840)
1997
40
Surgery in elderly patients with otosclerosis. (8588657)
1995
41
Magnetic resonance imaging of cochlear otosclerosis. (7574263)
1995
42
The effect on tinnitus of stapes surgery for otosclerosis. (7644843)
1995
43
Averaged electrode voltages: management of electrode failures in children, fluctuating threshold and comfort levels, and otosclerosis. (7668620)
1995
44
Far-advanced otosclerosis. (8172306)
1994
45
Evidence of abnormal stromelysin mRNA expression in suspected carriers of otosclerosis. A possible molecular marker. (8398062)
1993
46
Otosclerosis regrowth. (8246660)
1993
47
Impedance transfer: acoustic impedance of the annular ligament and stapedial tendon reconstruction in otosclerosis surgery. (8296869)
1993
48
Evaluation of cochlear function in a patient with "far-advanced" otosclerosis. (1415499)
1992
49
Otosclerosis. Correlation of clinical incidence and abnormal TIMP gene expression. (1659291)
1991
50
Otosclerosis in multiple exostosis. (311806)
1979

Variations for Otosclerosis

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Expression for genes affiliated with Otosclerosis

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Search GEO for disease gene expression data for Otosclerosis.

Pathways for genes affiliated with Otosclerosis

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Pathways related to Otosclerosis according to GeneCards Suite gene sharing:

(show all 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5TGFB1, NOG
2
Show member pathways
9.5NOG, TGFB1
39.5TGFB1, NOG
49.5NOG, TGFB1
5
Show member pathways
9.5NOG, TGFB1
69.4COL1A2, COL1A1
7
Show member pathways
9.4COL1A2, COL1A1
8
Show member pathways
Metalloproteases in connective tissue degradation
9.4COL1A2, COL1A1
9
Show member pathways
9.4COL1A2, COL1A1
109.4COL1A2, COL1A1
119.4COL1A2, COL1A1
129.4COL1A1, COL1A2
139.4COL1A1, COL1A2
14
Show member pathways
9.4COL1A1, COL1A2
159.4COL1A1, COL1A2
169.3TGFB1, COL1A1
179.1TGFB1, TNFRSF11B
189.0TNFRSF11B, COL1A1
199.0COL1A1, TNFRSF11B
20
Show member pathways
8.9TGFB1, COL1A1, COL1A2
21
Show member pathways
8.9TGFB1, COL1A2, COL1A1
228.9TGFB1, COL1A1, COL1A2
23
Show member pathways
8.9COL1A2, COL1A1, TGFB1

Compounds for genes affiliated with Otosclerosis

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Compounds related to Otosclerosis according to GeneCards Suite gene sharing:

(show all 36)
idCompoundScoreTop Affiliating Genes
1mithramycin439.9COL1A2, TGFB1
2nppa439.8COL1A2, COL1A1
3carbodiimide439.8COL1A2, COL1A1
4nppb28 43 5911.8COL1A2, COL1A1
5xbai439.8COL1A2, COL1A1
6ecori439.8COL1A1, COL1A2
7rsai439.8COL1A2, COL1A1
8mspi439.7COL1A1, COL1A2
9bleomycin43 1210.5COL1A1, TGFB1
10pmma439.5TGFB1, TNFRSF11B
11glycosaminoglycan439.4TGFB1, COL1A1
12ns 39843 5910.4TGFB1, TNFRSF11B
133-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide439.4TGFB1, TNFRSF11B
14azathioprine43 2 49 1212.3NOG, TNFRSF11B
15thymidine43 2410.2COL1A2, COL1A1, TGFB1
16simvastatin43 49 59 28 24 1214.1COL1A2, COL1A1
17dihydrotestosterone43 28 24 1212.1TNFRSF11B, TGFB1
18thyroxine43 2410.1TGFB1, TNFRSF11B
19oligonucleotide439.1TGFB1, COL1A1, COL1A2
20ly294002439.0COL1A2, TGFB1, TNFRSF11B
21tgf beta1439.0TGFB1, TNFRSF11B
22hydroxyproline43 24 1210.9COL1A1, TGFB1, TNFRSF11B
231,25 dihydroxy vitamin d3438.9TNFRSF11B, TGFB1, COL1A1
24cycloheximide438.9NOG, TGFB1, TNFRSF11B
25ribonucleic acid438.9NOG, COL1A2, COL1A1, TGFB1
26aspartate438.9TNFRSF11B, COL1A1, COL1A2
27pge2438.8TNFRSF11B, TGFB1, COL1A1
28procollagen438.5COL1A2, COL1A1, TGFB1, TNFRSF11B
29vitamin d438.5TNFRSF11B, TGFB1, COL1A1, COL1A2
30estrogen438.5TNFRSF11B, TGFB1, COL1A1, COL1A2
31vegf438.4TNFRSF11B, TGFB1, COL1A1, NOG
32retinoic acid43 249.4TNFRSF11B, TGFB1, COL1A1, NOG
33calcium43 49 24 1211.2NOG, COL1A2, COL1A1, TNFRSF11B
34cysteine438.0TNFRSF11B, COL1A1, COL1A2, NOG, SLC26A2
35serine438.0TNFRSF11B, TGFB1, COL1A1, COL1A2, NOG
36dexamethasone43 49 28 1210.9TNFRSF11B, TGFB1, COL1A1, NOG, SLC26A2

GO Terms for genes affiliated with Otosclerosis

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

idNameGO IDScoreTop Affiliating Genes
1collagen type IGO:00055849.4COL1A2, COL1A1
2extracellular matrixGO:00310129.4COL1A2, COL1A1
3extracellular spaceGO:00056157.5NOG, COL1A2, COL1A1, TGFB1, TNFRSF11B
4extracellular regionGO:00055767.3TNFRSF11B, TGFB1, COL1A1, COL1A2, NOG

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of branching involved in ureteric bud morphogenesisGO:00901909.8NOG, TGFB1
2skin morphogenesisGO:00435899.8COL1A2, COL1A1
3epithelial to mesenchymal transitionGO:00018379.8NOG, TGFB1
4protein heterotrimerizationGO:00702089.8COL1A1, COL1A2
5collagen fibril organizationGO:00301999.7COL1A1, COL1A2
6blood vessel developmentGO:00015689.7COL1A1, COL1A2
7embryonic skeletal system developmentGO:00487069.7NOG, COL1A1
8cellular response to amino acid stimulusGO:00712309.7COL1A2, COL1A1
9positive regulation of epithelial cell proliferationGO:00506799.7NOG, TGFB1
10positive regulation of epithelial to mesenchymal transitionGO:00107189.6TGFB1, COL1A1
11osteoblast differentiationGO:00016499.6NOG, COL1A1
12collagen catabolic processGO:00305749.6COL1A1, COL1A2
13extracellular matrix disassemblyGO:00226179.4COL1A2, COL1A1
14response to estradiolGO:00323559.4COL1A1, TGFB1
15leukocyte migrationGO:00509009.3COL1A1, COL1A2
16positive regulation of cell migrationGO:00303359.3COL1A1, TGFB1
17transforming growth factor beta receptor signaling pathwayGO:00071799.2COL1A2, TGFB1
18platelet activationGO:00301689.2COL1A2, COL1A1, TGFB1
19face morphogenesisGO:00603259.2NOG, COL1A1, TGFB1
20response to nutrientGO:00075849.1TNFRSF11B, COL1A1
21blood coagulationGO:00075969.1TGFB1, COL1A1, COL1A2
22skeletal system developmentGO:00015018.5NOG, COL1A2, COL1A1, TNFRSF11B
23extracellular matrix organizationGO:00301988.4TNFRSF11B, TGFB1, COL1A1, COL1A2

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.4COL1A2, COL1A1
2platelet-derived growth factor bindingGO:00484079.1COL1A2, COL1A1

Products for genes affiliated with Otosclerosis

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Sources for Otosclerosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet