MCID: OTS001
MIFTS: 46

Otosclerosis malady

Ear diseases category

Summaries for Otosclerosis

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63Wikipedia, 32MalaCards
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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: Otosclerosis is related to osteoporosis and ankylosis. An important gene associated with Otosclerosis is COL1A2 (collagen, type I, alpha 2), and among its related pathways are Anchoring fibril formation and Crosslinking of collagen fibrils. The compounds Collagenase and l-ascorbic acid 2-phosphate have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and cortex.

Aliases & Classifications for Otosclerosis

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Sources:
8Disease Ontology, 20GeneTests, 22GTR, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH, 27ICD9CM, 56SNOMED-CT, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Ear diseases


Aliases & Descriptions:

otosclerosis 8 20 22 10 44 60


External Ids:

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

Related Diseases for Otosclerosis

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Sources:
17GeneCards, 18GeneDecks
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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 71)
idRelated DiseaseScoreTop Affiliating Genes
1osteoporosis30.1COL1A2, COL1A1, TNFRSF11B, CD36, SLC26A2, NOG
2ankylosis30.0NOG
3osteogenesis imperfecta30.0COL1A2, COL1A1, CD36
4ehlers-danlos syndrome30.0COL1A2, COL1A1, CD36
5osteogenesis imperfecta type i29.8COL1A2, COL1A1
6cholesteatoma29.8A1BG, TNFRSF11B
7measles10.4
8sensorineural hearing loss10.3
9otosclerosis 510.1
10otosclerosis 310.1
11otosclerosis 710.1
12otosclerosis 210.1
13otosclerosis 810.1
14otosclerosis 410.1
15diastrophic dysplasia10.0
16enlarged vestibular aqueduct10.0
17vestibular nystagmus10.0
18neuroma10.0
19otitis media10.0
20otosclerosis, familial10.0
21otosclerosis 1010.0
22otosclerosis 110.0
23hyperostosis10.0COL1A1
24caffey disease10.0COL1A1
25connective tissue disease10.0TGFB1
26osteogenesis imperfecta type 410.0COL1A2, COL1A1
27osteogenesis imperfecta type iii10.0COL1A2, COL1A1
28osteogenesis imperfecta, type ii10.0COL1A2, COL1A1
29col1a1/2-related osteogenesis imperfecta10.0COL1A2, COL1A1
30achondrogenesis10.0SLC26A2
31marfan syndrome10.0CD36, COL1A2
32hyperparathyroidism10.0TNFRSF11B
33systemic scleroderma10.0COL1A1, COL1A2
34ehlers-danlos syndrome, classic type10.0COL1A1, COL1A2
35idiopathic juvenile osteoporosis10.0COL1A2, CD36
36fibromatosis, gingival10.0CD36, TGFB1
37short stature10.0CD36, COL1A2
38biliary atresia10.0TGFB1
39osteoporosis, postmenopausal10.0COL1A1, TNFRSF11B, CD36
40dentinogenesis imperfecta10.0COL1A2, COL1A1, CD36
41collagen disease10.0CD36, COL1A1
42myelofibrosis10.0TGFB1
43liver cirrhosis10.0TGFB1
44focal segmental glomerulosclerosis10.0COL1A2, CD36, TGFB1
45pseudoachondroplasia10.0SLC26A2, CD36
46gingival overgrowth10.0TGFB1, CD36, COL1A1
47osteoarthritis10.0COL1A2, COL1A1, TNFRSF11B, CD36, TGFB1
48cystic fibrosis10.0TNFRSF11B, COL1A2
49pulmonary fibrosis10.0TGFB1, CD36, COL1A1, COL1A2
50treacher collins syndrome9.9

Graphical network of the top 20 diseases related to Otosclerosis:



Diseases related to otosclerosis

Clinical Features for Otosclerosis

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Drugs & Therapeutics for Otosclerosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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:
20GeneTests, 22GTR
See all sources

Genetic tests related to Otosclerosis:

id Genetic test Affiliating Genes
1 Otosclerosis20 22

Anatomical Context for Otosclerosis

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Sources:
32MalaCards
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MalaCards organs/tissues related to Otosclerosis:

32
Bone, Eye, Cortex, Testes, T cells

Animal Models for Otosclerosis or affiliated genes

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Publications for Otosclerosis

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Sources:
50PubMed
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Articles related to Otosclerosis:

(show top 50)    (show all 496)
idTitleAuthorsYear
1
Evaluation of vascular activity in otosclerosis by laser Doppler flowmetry: comparison with computed tomographic densitometry. (24136322)
2013
2
Are computed tomography and densitometric measurements useful in otosclerosis with mixed hearing loss? A retrospective clinical study. (24096812)
2013
3
Predictors of listening capabilities and patient satisfaction after stapes surgery in otosclerosis. (23295729)
2013
4
Association of COL1A1 polymorphism in Turkish patients with otosclerosis. (23601588)
2013
5
Surgical Treatment of Otosclerosis: Eight years' Experience at the Jordan University Hospital. (24303446)
2013
6
Functional hearing results in patients with otosclerosis before and after stapedotomy. (22452241)
2012
7
Jugular bulb diverticulum dehiscence towards the vestibular aqueduct in a patient with otosclerosis. (22216874)
2012
8
Controversies in RELN/reelin expression in otosclerosis. (21630058)
2012
9
Otosclerosis: a perilabyrinthine threshold phenomenon. (22217131)
2012
10
Aided air conduction threshold as a predictor of cochlear reserve in otosclerosis patients. (20145423)
2010
11
Otosclerosis 3: the surgical management of otosclerosis. (20456195)
2010
12
A review of 89 revision stapes surgeries for otosclerosis. (21036120)
2010
13
COCHLEAR IMPLANTATION IN OTOSCLEROSIS. (20818289)
2010
14
Relationship between high-resolution computed tomography densitometry and audiometry in otosclerosis. (20399580)
2010
15
Prospective effectiveness of stapes surgery for otosclerosis in a multicenter audit setting: feasibility of the Common Otology Database as a benchmark database. (19672201)
2009
16
Otosclerosis: an autoimmune disease? (19318139)
2009
17
Disease-associated novel CD46 splicing variants and pathologic bone remodeling in otosclerosis. (18677279)
2008
18
Molecular biology of otosclerosis. (17245026)
2007
19
Evidence of increased average age of patients with otosclerosis. (17245018)
2007
20
A review on the genetics of otosclerosis. (17651264)
2007
21
Dynamic bone studies of the labyrinthine capsule in relation to otosclerosis. (17245023)
2007
22
Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus. (16618911)
2006
23
Perioperative recordings of vestibular-evoked myogenic potentials in otosclerosis. (17057612)
2006
24
Air and bone conduction change after stapedotomy and partial stapedectomy for otosclerosis. (16025064)
2005
25
Otosclerosis. Untimely hearing loss. (12619620)
2003
26
MRI of cochlear otosclerosis. (12124236)
2002
27
Management of otosclerosis in the UK. (11994117)
2002
28
Electronystagmography in a patient with recent disequilibrium and a family history of otosclerosis. (12472025)
2002
29
Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3. (12114476)
2002
30
Etiopathogenesis of otosclerosis. (12021502)
2002
31
Sensorineural hearing loss and otosclerosis: a clinical and radiologic survey of 437 cases. (11349779)
2001
32
Stapes mobilization in otosclerosis. (11523478)
2001
33
No evidence of measles virus in stapes samples from patients with otosclerosis. (10878059)
2000
34
Scanning electron microscopy images and energy-dispersive X-ray microanalysis of the stapes in otosclerosis and Van der Hoeve syndrome. (10983951)
2000
35
Cochlear otosclerosis 30 years after stapedectomy confirmed by CT, MRI. (9512800)
1998
36
Correlations between pathologic changes in the stapes and conductive hearing loss in otosclerosis. (9557767)
1998
37
Imaging case of the month: cochlear otosclerosis. (9149840)
1997
38
Effect of drinking water fluoridation on the prevalence of otosclerosis. (9292125)
1997
39
The subjective meaning of illness in severe otosclerosis: a descriptive study in three steps based on focus group interviews and written questionnaire. (8738643)
1996
40
Otosclerosis update. (8860924)
1996
41
Surgery in elderly patients with otosclerosis. (8588657)
1995
42
Otosclerosis: a measles virus associated inflammatory disease. (7610826)
1995
43
Buschke-Ollendorff syndrome, otosclerosis, and congenital spinal stenosis. (8170846)
1994
44
Endolymphatic hydrops associated with otosclerosis. (8579139)
1994
45
Group specific component in serum and otosclerosis: no association. (8073863)
1994
46
Inner ear inflammation and round window otosclerosis. (8503480)
1993
47
Carbon dioxide lasers for otosclerosis. (8341572)
1993
48
Computed tomographic evaluation of otosclerosis. (8214325)
1993
49
Very far-advanced otosclerosis. (1443086)
1992
50
Cochlear otosclerosis presenting in children: a case report. (2012193)
1991

Genetic Variations for Otosclerosis

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Expression for genes affiliated with Otosclerosis

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Sources:
1BioGPS, 15Gene 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:
53Reactome, 37NCBI BioSystems Database, 49PharmGKB
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Compounds for genes affiliated with Otosclerosis

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Sources:
11DrugBank, 44Novoseek, 59Tocris Bioscience, 28IUPHAR, 24HMDB, 49PharmGKB
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Compounds related to Otosclerosis according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1Collagenase1110.6COL1A2, COL1A1
2l-ascorbic acid 2-phosphate4410.6TGFB1, CD36
3nppa4410.6COL1A2, COL1A1
4carbodiimide4410.6COL1A1, COL1A2
5benzylamide4410.5CD36, TGFB1
6etidronate4410.5CD36, TNFRSF11B
7teriparatide44 1111.5CD36, TNFRSF11B
8ibandronate44 1111.5CD36, TNFRSF11B
9vitamin k24410.4CD36, TNFRSF11B
10nppb44 59 2812.4COL1A1, COL1A2
11hydroxyproline44 11 2412.3COL1A1, TNFRSF11B, CD36, TGFB1
12glycosaminoglycan4410.3TGFB1, CD36, COL1A1
13pamidronate44 49 1112.3TNFRSF11B, CD36
141,25 dihydroxy vitamin d34410.3COL1A1, TNFRSF11B, TGFB1
15ribonucleic acid4410.3COL1A2, COL1A1, NOG, TGFB1
16mithramycin4410.2TGFB1, COL1A2
17procollagen4410.2TGFB1, CD36, TNFRSF11B, COL1A1, COL1A2
18clodronate44 49 1112.2CD36, TNFRSF11B
19vitamin d4410.2COL1A2, COL1A1, TNFRSF11B, CD36, TGFB1
20ly2940024410.1TGFB1, CD36, TNFRSF11B, COL1A2
21risedronate44 59 49 28 1114.1CD36, TNFRSF11B
22dexamethasone44 49 28 1113.1TGFB1, NOG, SLC26A2, CD36, TNFRSF11B, COL1A1
23cysteine4410.0COL1A2, COL1A1, TNFRSF11B, CD36, SLC26A2, NOG
24pirfenidone44 5910.9TGFB1, CD36

GO Terms for genes affiliated with Otosclerosis

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Sources:
16Gene Ontology
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Cellular components related to Otosclerosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type IGO:00558410.2COL1A1, COL1A2

Biological processes related to Otosclerosis according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:04358910.3COL1A1, COL1A2
2face morphogenesisGO:06032510.3TGFB1, NOG, COL1A1
3positive regulation of branching involved in ureteric bud morphogenesisGO:09019010.2TGFB1, NOG
4protein heterotrimerizationGO:07020810.1COL1A1, COL1A2
5skeletal system developmentGO:00150110.1COL1A2, COL1A1, TNFRSF11B, NOG
6platelet activationGO:03016810.0COL1A2, COL1A1, CD36, TGFB1
7extracellular matrix organizationGO:0301989.7COL1A2, COL1A1, TNFRSF11B, TGFB1

Molecular functions related to Otosclerosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:04840710.2COL1A1, COL1A2

Products for genes affiliated with Otosclerosis

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  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet