MCID: OTS001
MIFTS: 53

Otosclerosis malady

Genetic diseases, Ear diseases, Rare diseases categories

Summaries for Otosclerosis

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66Wikipedia, 34MalaCards
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Wikipedia:66 Otosclerosis is an abnormal growth of bone near the middle ear. It can result in hearing loss. more...

MalaCards: 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 Cardiac Progenitor Differentiation and TGF Beta Signaling Pathway. The compounds mithramycin and nppa have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and cortex, and related mouse phenotypes are hearing/vestibular/ear and muscle.

Aliases & Classifications for Otosclerosis

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Sources:
9Disease Ontology, 21GeneTests, 23GTR, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 28ICD9CM, 36MeSH, 26ICD10
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Classifications:

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


Aliases & Descriptions:

otosclerosis 9 21 23 11 46 63


External Ids:

Disease Ontology9 DOID:12185
ICD9CM28 387.8
MeSH36 D010040
ICD1026 H80, H80.9

Related Diseases for Otosclerosis

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Otosclerosis family:

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

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

(show top 50)    (show all 61)
idRelated DiseaseScoreTop Affiliating Genes
1ankylosis30.3NOG
2ehlers-danlos syndrome30.1COL1A2, COL1A1
3osteogenesis imperfecta30.1COL1A2, COL1A1
4osteoporosis30.0TNFRSF11B, TGFB1, COL1A1, COL1A2, NOG, SLC26A2
5measles10.5
6sensorineural hearing loss10.4
7otosclerosis, familial10.3
8otosclerosis 310.3
9otosclerosis 210.3
10otosclerosis 110.2
11endolymphatic hydrops10.2
12otosclerosis 1010.2
13otosclerosis 510.2
14otosclerosis 710.2
15otosclerosis 810.2
16otosclerosis 410.2
17enlarged vestibular aqueduct10.1
18diastrophic dysplasia10.1
19neuroma10.1
20otitis media10.1
21col1a1/2-related osteogenesis imperfecta10.0COL1A1, COL1A2
22osteogenesis imperfecta type iii10.0COL1A1, COL1A2
23osteogenesis imperfecta, type ii10.0COL1A1, COL1A2
24osteogenesis imperfecta type i10.0COL1A2, COL1A1
25osteogenesis imperfecta type 410.0COL1A1, COL1A2
26ehlers–danlos syndrome classical type10.0COL1A2, COL1A1
27dentinogenesis imperfecta10.0COL1A1, COL1A2
28systemic scleroderma10.0COL1A2, COL1A1
29gingival overgrowth10.0COL1A1, TGFB1
30connective tissue disease10.0COL1A1, COL1A2
31glomerulosclerosis10.0COL1A2, TGFB1
32cystic fibrosis10.0COL1A2, TNFRSF11B
33pulmonary disease, chronic obstructive10.0COL1A1, TGFB1
34pulmonary fibrosis10.0COL1A2, COL1A1, TGFB1
35osteoporosis, postmenopausal10.0TNFRSF11B, COL1A1
36primary hyperoxaluria9.9TNFRSF11B, TGFB1
37melkersson-rosenthal syndrome9.9
38treacher collins syndrome9.9
39spinal stenosis9.9
40osteopoikilosis9.9
41esophageal atresia9.9
42acoustic neuroma9.9
43camurati-engelmann disease9.9
44fabry disease9.9
45familial combined hyperlipidemia9.9
46urticaria pigmentosa9.9
47cholesteatoma9.9
48chondrosarcoma9.9
49esophagitis9.9
50exostosis9.9

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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Otosclerosis

Drug clinical trials:

Search ClinicalTrials for Otosclerosis

Search NIH Clinical Center for Otosclerosis

Search CenterWatch for Otosclerosis

Genetic Tests for Otosclerosis

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Sources:
21GeneTests, 23GTR
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Genetic tests related to Otosclerosis:

id Genetic test Affiliating Genes
1 Otosclerosis21 23

Anatomical Context for Otosclerosis

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34MalaCards
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MalaCards organs/tissues related to Otosclerosis:

34
Bone, Eye, Cortex, Testes, T cells

Animal Models for Otosclerosis or affiliated genes

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Sources:
38MGI
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Publications for Otosclerosis

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Sources:
53PubMed
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Articles related to Otosclerosis:

(show top 50)    (show all 491)
idTitleAuthorsYear
1
Evaluation of vascular activity in otosclerosis by laser Doppler flowmetry: comparison with computed tomographic densitometry. (24136322)
2013
2
Outcome of management of otosclerosis by stapedotomy compared to stapedectomy in a jordanian population. (23386943)
2013
3
The role of imaging in the diagnosis and management of otosclerosis. (23921926)
2013
4
Are computed tomography and densitometric measurements useful in otosclerosis with mixed hearing loss? A retrospective clinical study. (24096812)
2013
5
Comments on 'Stapes surgery in profound hearing loss due to otosclerosis'. (23444485)
2013
6
Predictors of listening capabilities and patient satisfaction after stapes surgery in otosclerosis. (23295729)
2013
7
Oval window niche height: quantitative evaluation with CT before stapes surgery for otosclerosis. (23179652)
2013
8
Mild form of treacher collins syndrome imitating juvenile otosclerosis. (22953143)
2012
9
Functional hearing results in patients with otosclerosis before and after stapedotomy. (22452241)
2012
10
Evolution of otosclerosis to cochlear implantation. (22425206)
2012
11
Phenotype of the first otosclerosis family linked to OTSC10. (21433022)
2011
12
New bone formation in patients with cochlear implants and otosclerosis. (21892123)
2011
13
Primary stapes surgery in patients with otosclerosis: prediction of postoperative outcome. (21768405)
2011
14
Superior canal dehiscence in a patient with three failed stapedectomy operations for otosclerosis: a case report. (21291515)
2011
15
Otosclerosis 2: the medical management of otosclerosis. (20089010)
2010
16
Results of stapedotomy in otosclerosis with severe and profound hearing loss. (20470668)
2010
17
No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population. (19503013)
2009
18
Superior semicircular canal dehiscence: prevalence in a population with clinical suspected otosclerosis-type hearing loss. (19670595)
2009
19
Variations in the "Carhart notch" and overclosure after laser-assisted stapedotomy in otosclerosis. (18957900)
2009
20
Audiological evaluation of patients with otosclerosis. (17245032)
2007
21
Otosclerosis of the incus. (17414034)
2007
22
No evidence of linkage between 7q33-36 locus (OTSC2) and otosclerosis in seven British Caucasian pedigrees. (17908356)
2007
23
Distortion product otoacoustic emissions in otosclerosis: intraoperative findings. (17245034)
2007
24
Far-advanced otosclerosis and cochlear implantation. (17685047)
2007
25
Vestibular-evoked myogenic potentials in patients with otosclerosis using air- and bone-conducted tone-burst stimulation. (17106429)
2007
26
Molecular biology of otosclerosis. (17245026)
2007
27
Revision cochlear implantation for facial nerve stimulation in otosclerosis. (16618909)
2006
28
Blood flow to the promontory in cochlear otosclerosis. (16620329)
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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Otosclerosis

Search GEO for disease gene expression data for Otosclerosis.

Pathways for genes affiliated with Otosclerosis

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Sources:
51PathCards, 39NCBI BioSystems Database, 58SinoBiological, 31KEGG, 54QIAGEN, 56Reactome, 52PharmGKB, 61Thomson Reuters, 13EMD Millipore
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Pathways related to Otosclerosis according to GeneCards/GeneDecks:

(show all 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5TGFB1, NOG
29.5NOG, TGFB1
39.5NOG, TGFB1
4
Show member pathways
9.5NOG, TGFB1
5
Show member pathways
9.5NOG, TGFB1
6
Show member pathways
9.4COL1A2, COL1A1
79.4COL1A2, COL1A1
89.4COL1A2, COL1A1
9
Show member pathways
9.4COL1A2, COL1A1
109.4COL1A2, COL1A1
119.4COL1A2, COL1A1
12
Show member pathways
9.4COL1A1, COL1A2
139.4COL1A1, COL1A2
149.4COL1A1, COL1A2
15
Show member pathways
9.4COL1A1, COL1A2
169.3COL1A1, TGFB1
179.1TGFB1, TNFRSF11B
189.0TNFRSF11B, COL1A1
199.0COL1A1, TNFRSF11B
20
Show member pathways
8.9TGFB1, COL1A1, COL1A2
21
Show member pathways
8.9TGFB1, COL1A1, COL1A2
22
Show member pathways
8.9TGFB1, COL1A1, COL1A2
238.9COL1A2, COL1A1, TGFB1

Compounds for genes affiliated with Otosclerosis

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Sources:
46Novoseek, 30IUPHAR, 62Tocris Bioscience, 12DrugBank, 3BitterDB, 52PharmGKB, 25HMDB
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Compounds related to Otosclerosis according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1mithramycin469.9COL1A2, TGFB1
2nppa469.8COL1A2, COL1A1
3carbodiimide469.8COL1A2, COL1A1
4nppb30 46 6211.8COL1A2, COL1A1
5xbai469.8COL1A2, COL1A1
6ecori469.8COL1A1, COL1A2
7rsai469.8COL1A2, COL1A1
8mspi469.7COL1A1, COL1A2
9bleomycin46 1210.5COL1A1, TGFB1
10pmma469.5TGFB1, TNFRSF11B
11glycosaminoglycan469.4TGFB1, COL1A1
12ns 39846 6210.4TGFB1, TNFRSF11B
133-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide469.4TGFB1, TNFRSF11B
14azathioprine46 3 52 1212.3NOG, TNFRSF11B
15thymidine46 2510.2COL1A2, COL1A1, TGFB1
16simvastatin46 52 62 30 25 1214.1COL1A2, COL1A1
17dihydrotestosterone46 30 25 1212.1TNFRSF11B, TGFB1
18thyroxine46 2510.1TGFB1, TNFRSF11B
19oligonucleotide469.1TGFB1, COL1A1, COL1A2
20ly294002469.0COL1A2, TGFB1, TNFRSF11B
21tgf beta1469.0TGFB1, TNFRSF11B
22hydroxyproline46 25 1210.9COL1A1, TGFB1, TNFRSF11B
231,25 dihydroxy vitamin d3468.9TNFRSF11B, TGFB1, COL1A1
24cycloheximide468.9NOG, TGFB1, TNFRSF11B
25ribonucleic acid468.9NOG, COL1A2, COL1A1, TGFB1
26aspartate468.9TNFRSF11B, COL1A1, COL1A2
27pge2468.8TNFRSF11B, TGFB1, COL1A1
28procollagen468.5COL1A2, COL1A1, TGFB1, TNFRSF11B
29vitamin d468.5TNFRSF11B, TGFB1, COL1A1, COL1A2
30estrogen468.5TNFRSF11B, TGFB1, COL1A1, COL1A2
31vegf468.4TNFRSF11B, TGFB1, COL1A1, NOG
32retinoic acid46 259.4TNFRSF11B, TGFB1, COL1A1, NOG
33calcium46 52 25 1211.2NOG, COL1A2, COL1A1, TNFRSF11B
34cysteine468.0TNFRSF11B, COL1A1, COL1A2, NOG, SLC26A2
35serine468.0TNFRSF11B, TGFB1, COL1A1, COL1A2, NOG
36dexamethasone46 52 30 1210.9TNFRSF11B, TGFB1, COL1A1, NOG, SLC26A2

GO Terms for genes affiliated with Otosclerosis

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17Gene Ontology
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Cellular components related to Otosclerosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type IGO:0055849.4COL1A2, COL1A1
2extracellular matrixGO:0310129.4COL1A2, COL1A1
3extracellular spaceGO:0056157.5NOG, COL1A2, COL1A1, TGFB1, TNFRSF11B
4extracellular regionGO:0055767.3TNFRSF11B, TGFB1, COL1A1, COL1A2, NOG

Biological processes related to Otosclerosis according to GeneCards/GeneDecks:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of branching involved in ureteric bud morphogenesisGO:0901909.8NOG, TGFB1
2skin morphogenesisGO:0435899.8COL1A2, COL1A1
3epithelial to mesenchymal transitionGO:0018379.8NOG, TGFB1
4protein heterotrimerizationGO:0702089.8COL1A1, COL1A2
5collagen fibril organizationGO:0301999.7COL1A1, COL1A2
6blood vessel developmentGO:0015689.7COL1A1, COL1A2
7embryonic skeletal system developmentGO:0487069.7NOG, COL1A1
8cellular response to amino acid stimulusGO:0712309.7COL1A2, COL1A1
9positive regulation of epithelial cell proliferationGO:0506799.7NOG, TGFB1
10positive regulation of epithelial to mesenchymal transitionGO:0107189.6TGFB1, COL1A1
11osteoblast differentiationGO:0016499.6NOG, COL1A1
12collagen catabolic processGO:0305749.6COL1A1, COL1A2
13extracellular matrix disassemblyGO:0226179.4COL1A2, COL1A1
14response to estradiolGO:0323559.4COL1A1, TGFB1
15leukocyte migrationGO:0509009.3COL1A1, COL1A2
16positive regulation of cell migrationGO:0303359.3COL1A1, TGFB1
17transforming growth factor beta receptor signaling pathwayGO:0071799.2COL1A2, TGFB1
18platelet activationGO:0301689.2COL1A2, COL1A1, TGFB1
19face morphogenesisGO:0603259.2NOG, COL1A1, TGFB1
20response to nutrientGO:0075849.1TNFRSF11B, COL1A1
21blood coagulationGO:0075969.1TGFB1, COL1A1, COL1A2
22skeletal system developmentGO:0015018.5NOG, COL1A2, COL1A1, TNFRSF11B
23extracellular matrix organizationGO:0301988.4TNFRSF11B, TGFB1, COL1A1, COL1A2

Molecular functions related to Otosclerosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.4COL1A2, COL1A1
2platelet-derived growth factor bindingGO:0484079.1COL1A2, COL1A1

Products for genes affiliated with Otosclerosis

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  • Antibodies
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Sources for Otosclerosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet