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, testes and eye.

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
See all sources

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, Testes, Eye, T cells, Cortex

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
Oval window niche height: quantitative evaluation with CT before stapes surgery for otosclerosis. (23179652)
2013
2
Perspectives of pharmacological treatment in otosclerosis. (22843095)
2013
3
Genetic association and gene expression profiles of TGFB1 and the contribution of TGFB1 to otosclerosis susceptibility. (23703862)
2013
4
An "Uncrimped" SMart Stapes Prosthesis: A Cause of Late Hearing Deterioration in Otosclerosis. (22431926)
2012
5
Restriction analysis of otosclerosis-associated CD46 splicing variants. (19597833)
2010
6
The spatial distribution of otosclerosis: a quantitative study using design-based stereology. (19968606)
2010
7
Why do we include CT scanning in the evaluation of otosclerosis patients? (20714201)
2010
8
The genetics of otosclerosis. (19607896)
2010
9
Reliability of high-resolution CT scan in diagnosis of otosclerosis. (19887979)
2009
10
Editorial comment on "no evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population". (19887983)
2009
11
Cochlear otosclerosis with malleoincudal fixation. (18580697)
2009
12
Tinnitus and otosclerosis. (20163050)
2009
13
Hearing rehabilitation counseling for patients with otosclerosis-related hearing loss. (19174707)
2009
14
Complications and pitfalls of cochlear implantation in otosclerosis: a 6-year follow-up cohort study. (19395988)
2009
15
Sacculo-collic response in otosclerosis and following successful stapes surgery. (17349100)
2008
16
Cochlear otosclerosis. (18180693)
2008
17
An analysis of the air-bone gap closure obtained by a crimping and a non-crimping titanium stapes prosthesis in otosclerosis. (18022336)
2008
18
Cochlear otosclerosis and endolymphatic hydrops. (18401282)
2008
19
No evidence of linkage between 7q33-36 locus (OTSC2) and otosclerosis in seven British Caucasian pedigrees. (17908356)
2007
20
Phenotype description of a Dutch otosclerosis family with suggestive linkage to OTSC7. (17568406)
2007
21
Otosclerosis and associated otopathologic conditions. (17245020)
2007
22
Bone conduction in otosclerosis--operated versus non-operated ears. (17970567)
2007
23
Otosclerosis: mid-term results of cochlear implantation. (17675831)
2007
24
Some remarks on the histopathology of otosclerosis. (17245019)
2007
25
Otosclerosis: a review of aetiology, management and outcomes. (17017609)
2006
26
Quantification of angiogenesis in otosclerosis. (15867645)
2005
27
Histologic otosclerosis is associated with the presence of measles virus in the stapes footplate. (16272929)
2005
28
Does pregnancy affect otosclerosis? (16222205)
2005
29
Correlation of CT analysis and audiometry in Japanese otosclerosis. (15121220)
2004
30
Neuroplasticity of auditory cortex after stape surgery for otosclerosis: a magnetoencephalographic study. (15046412)
2003
31
Malleostapedotomy in revision surgery for otosclerosis. (11698795)
2001
32
Efficacy of evaluation of audiometric results after stapes surgery in otosclerosis. I. The effects of using different audiologic parameters and criteria on success rates. (11228458)
2001
33
Management of far advanced otosclerosis in the era of cochlear implantation. (11449102)
2001
34
A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36. (11170898)
2001
35
Loss of facial nerve fibers in a case of otosclerosis. (10993472)
2000
36
Persistent measles virus infection as a possible cause of otosclerosis: state of the art. (10969462)
2000
37
Stapedectomy for far-advanced otosclerosis. (10431881)
1999
38
Obliterative otosclerosis. (10605578)
1999
39
Pneumatization in otosclerosis. (10445061)
1999
40
Otosclerosis regrowth. (8246660)
1993
41
Hearing aids and otosclerosis. (8341576)
1993
42
Evaluation of cochlear function in a patient with "far-advanced" otosclerosis. (1415499)
1992
43
Otosclerosis. Treating progressive hearing loss in young adults. (1603757)
1992
44
Survival and evolution of vein grafts in otosclerosis surgery: structural and ultrastructural evidence. (1599011)
1992
45
Otosclerosis: the University of Minnesota temporal bone collection. (1945425)
1991
46
Sodium fluoride therapy for otosclerosis. (2007023)
1991
47
Revision surgery for otosclerosis. (2284916)
1990
48
Small fenestra stapedotomy using a fiberoptic hand-held argon laser in obliterative otosclerosis. (2243517)
1990
49
Otosclerosis in multiple exostosis. (311806)
1979
50
Urticaria pigmentosa with systemic lesions and otosclerosis. (14415943)
1960

Genetic Variations for Otosclerosis

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Expression for genes affiliated with Otosclerosis

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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
See all sources

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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  • Antibodies
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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