MCID: OTS001
MIFTS: 53

Otosclerosis malady

Genetic diseases, Ear diseases, Rare diseases categories
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Summaries for Otosclerosis

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Wikipedia:65 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, and has symptoms including 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, testes and eye, and related mouse phenotypes are hearing/vestibular/ear and muscle.

Aliases & Classifications for Otosclerosis

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Sources:
8Disease Ontology, 20GeneTests, 22GTR, 10DISEASES, 44Novoseek, 62UMLS, 57SNOMED-CT, 34MeSH, 27ICD9CM, 25ICD10
See all sources

Otosclerosis, Aliases & Descriptions:

Name: Otosclerosis 8 20 22 10 44 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:12185
MeSH34 D010040
ICD9CM27 387.8
ICD1025 H80, H80.9

Related Diseases for Otosclerosis

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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 62)
idRelated DiseaseScoreTop Affiliating Genes
1ankylosis30.8NOG
2ehlers-danlos syndrome30.2COL1A2, COL1A1
3osteogenesis imperfecta30.2COL1A2, COL1A1
4osteoporosis29.0TNFRSF11B, TGFB1, COL1A1, COL1A2, NOG, SLC26A2
5measles10.5
6sensorineural hearing loss10.4
7otosclerosis, familial10.3
8otosclerosis 310.3
9otosclerosis 210.3
10otosclerosis 110.3
11endolymphatic hydrops10.2
12otosclerosis 1010.2
13otosclerosis 510.2
14otosclerosis 710.2
15otosclerosis 810.2
16otosclerosis 410.2
17col1a1/2-related osteogenesis imperfecta10.2COL1A1, COL1A2
18osteogenesis imperfecta type iii10.2COL1A1, COL1A2
19osteogenesis imperfecta, type ii10.2COL1A1, COL1A2
20osteogenesis imperfecta type i10.1COL1A2, COL1A1
21osteogenesis imperfecta type 410.1COL1A1, COL1A2
22ehlers–danlos syndrome classical type10.1COL1A2, COL1A1
23dentinogenesis imperfecta10.1COL1A1, COL1A2
24systemic scleroderma10.1COL1A2, COL1A1
25diastrophic dysplasia10.1
26enlarged vestibular aqueduct10.1
27neuroma10.1
28otitis media10.1
29gingival overgrowth10.1COL1A1, TGFB1
30connective tissue disease10.0COL1A1, COL1A2
31glomerulosclerosis10.0COL1A2, TGFB1
32cystic fibrosis10.0COL1A2, TNFRSF11B
33chronic obstructive pulmonary disease10.0COL1A1, TGFB1
34spinal stenosis9.9
35treacher collins syndrome9.9
36fabry disease9.9
37melkersson-rosenthal syndrome9.9
38familial combined hyperlipidemia9.9
39charge syndrome9.9
40osteopoikilosis9.9
41acoustic neuroma9.9
42camurati-engelmann disease9.9
43urticaria pigmentosa9.9
44esophageal atresia9.9
45cholesteatoma9.9
46chondrosarcoma9.9
47esophagitis9.9
48exostosis9.9
49labyrinthitis9.9
50meniere's disease9.9

Graphical network of the top 20 diseases related to Otosclerosis:



Diseases related to otosclerosis

Symptoms for Otosclerosis

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HPO human phenotypes related to Otosclerosis:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 otosclerosis HP:0000362
3 conductive hearing impairment HP:0000405

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:

32
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 511)
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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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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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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Compounds related to Otosclerosis according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1mithramycin449.9COL1A2, TGFB1
2nppa449.8COL1A2, COL1A1
3carbodiimide449.8COL1A2, COL1A1
4nppb28 44 6111.8COL1A2, COL1A1
5xbai449.8COL1A2, COL1A1
6ecori449.8COL1A1, COL1A2
7rsai449.8COL1A2, COL1A1
8mspi449.7COL1A1, COL1A2
9bleomycin44 1110.5COL1A1, TGFB1
10pmma449.5TGFB1, TNFRSF11B
11glycosaminoglycan449.4TGFB1, COL1A1
12ns 39844 6110.4TGFB1, TNFRSF11B
133-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide449.4TGFB1, TNFRSF11B
14azathioprine44 2 50 1112.3NOG, TNFRSF11B
15thymidine44 2410.2COL1A2, COL1A1, TGFB1
16simvastatin44 50 61 28 24 1114.1COL1A2, COL1A1
17dihydrotestosterone44 28 24 1112.1TNFRSF11B, TGFB1
18thyroxine44 2410.1TGFB1, TNFRSF11B
19oligonucleotide449.1TGFB1, COL1A1, COL1A2
20ly294002449.0COL1A2, TGFB1, TNFRSF11B
21tgf beta1449.0TGFB1, TNFRSF11B
22hydroxyproline44 24 1110.9COL1A1, TGFB1, TNFRSF11B
231,25 dihydroxy vitamin d3448.9TNFRSF11B, TGFB1, COL1A1
24cycloheximide448.9NOG, TGFB1, TNFRSF11B
25ribonucleic acid448.9NOG, COL1A2, COL1A1, TGFB1
26aspartate448.9TNFRSF11B, COL1A1, COL1A2
27pge2448.8TNFRSF11B, TGFB1, COL1A1
28procollagen448.5COL1A2, COL1A1, TGFB1, TNFRSF11B
29vitamin d448.5TNFRSF11B, TGFB1, COL1A1, COL1A2
30estrogen448.5TNFRSF11B, TGFB1, COL1A1, COL1A2
31vegf448.4TNFRSF11B, TGFB1, COL1A1, NOG
32retinoic acid44 249.4TNFRSF11B, TGFB1, COL1A1, NOG
33calcium44 50 24 1111.2NOG, COL1A2, COL1A1, TNFRSF11B
34cysteine448.0TNFRSF11B, COL1A1, COL1A2, NOG, SLC26A2
35serine448.0TNFRSF11B, TGFB1, COL1A1, COL1A2, NOG
36dexamethasone44 50 28 1110.9TNFRSF11B, TGFB1, COL1A1, NOG, SLC26A2

GO Terms for genes affiliated with Otosclerosis

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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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Sources for Otosclerosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet