MCID: OTS001
MIFTS: 41

Otosclerosis malady

Ear category

Summaries for Otosclerosis

Sources:
64Wikipedia, 33MalaCards
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Wikipedia:64 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 cortex and t cells.

Aliases & Classifications for Otosclerosis

Sources:
8Disease Ontology, 20GeneTests, 22GTR, 10DISEASES, 45Novoseek, 61UMLS, 35MeSH, 27ICD9CM, 57SNOMED-CT, 25ICD10
See all sources

Classifications:

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


Aliases & Descriptions:

otosclerosis 8 20 22 10 45 61


External Ids:

Disease Ontology8 DOID:12185
MeSH35 D010040
ICD9CM27 387.8
ICD1025 H80, H80.9

Related Diseases for Otosclerosis

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 69)
idRelated DiseaseScoreTop Affiliating Genes
1osteoporosis30.2COL1A2, COL1A1, TNFRSF11B, CD36, SLC26A2, NOG
2ankylosis30.1NOG
3osteogenesis imperfecta30.1COL1A2, COL1A1, CD36
4osteogenesis imperfecta type i29.8COL1A2, COL1A1
5measles10.5
6sensorineural hearing loss10.4
7otosclerosis 110.4
8otosclerosis 710.3
9otosclerosis 210.3
10otosclerosis 310.2
11endolymphatic hydrops10.2
12otosclerosis, familial10.1
13otosclerosis 510.1
14otosclerosis 810.1
15otosclerosis 410.1
16diastrophic dysplasia10.1
17enlarged vestibular aqueduct10.1
18vestibular nystagmus10.1
19ehlers–danlos syndrome10.1
20otosclerosis 1010.1
21hyperostosis10.0COL1A1
22caffey disease10.0COL1A1
23connective tissue disease10.0TGFB1
24osteogenesis imperfecta type 410.0COL1A2, COL1A1
25osteogenesis imperfecta type iii10.0COL1A2, COL1A1
26osteogenesis imperfecta, type ii10.0COL1A2, COL1A1
27col1a1/2-related osteogenesis imperfecta10.0COL1A2, COL1A1
28achondrogenesis10.0SLC26A2
29marfan syndrome10.0CD36, COL1A2
30hyperparathyroidism10.0TNFRSF11B
31systemic scleroderma10.0COL1A1, COL1A2
32ehlers-danlos syndrome, classic type10.0COL1A1, COL1A2
33idiopathic juvenile osteoporosis10.0COL1A2, CD36
34fibromatosis, gingival10.0CD36, TGFB1
35short stature10.0CD36, COL1A2
36biliary atresia10.0TGFB1
37osteoporosis, postmenopausal10.0COL1A1, TNFRSF11B, CD36
38dentinogenesis imperfecta10.0COL1A2, COL1A1, CD36
39collagen disease10.0CD36, COL1A1
40myelofibrosis10.0TGFB1
41liver cirrhosis10.0TGFB1
42focal segmental glomerulosclerosis10.0COL1A2, CD36, TGFB1
43pseudoachondroplasia10.0SLC26A2, CD36
44ehlers-danlos syndrome10.0COL1A2, COL1A1, CD36
45cholesteatoma10.0A1BG, TNFRSF11B
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

Drugs & Therapeutics for Otosclerosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Otosclerosis:

id Genetic test Affiliating Genes
1 Otosclerosis20 22

Anatomical Context for Otosclerosis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Otosclerosis:

33
Cortex, T cells

Animal Models for Otosclerosis or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Otosclerosis

Sources:
51PubMed
See all sources

Articles related to Otosclerosis:

(show top 50)    (show all 499)
idTitleAuthorsYear
1
Genetic association and gene expression profiles of TGFB1 and the contribution of TGFB1 to otosclerosis susceptibility. (23703862)
2013
2
Controversial issues of optimal surgical timing and patient selection in the treatment planning of otosclerosis. (23632874)
2013
3
Short-term hearing results after primary stapedotomy with nitinol and teflon-platinum prostheses for otosclerosis. (23143561)
2013
4
Undiagnosed severe cochlear otosclerosis as a cause of profound hearing loss. (23187926)
2013
5
Long term outcome of otosclerosis surgery. (22936147)
2012
6
Third-generation bisphosphonates for treatment of sensorineural hearing loss in otosclerosis. (22935809)
2012
7
Outcome of stapes surgery for tinnitus recovery in otosclerosis. (23906826)
2012
8
Malleo-incudal osteoma: an unexpected finding during surgery for presumed otosclerosis. (21745432)
2011
9
Current aspects of etiology, diagnosis and therapy of otosclerosis. (21916215)
2011
10
Restriction analysis of otosclerosis-associated CD46 splicing variants. (19597833)
2010
11
Latent superior canal dehiscence syndrome unmasked by stapedotomy for otosclerosis. (19840429)
2010
12
Genetic variants in RELN are associated with otosclerosis in a non-European population from Tunisia. (20642811)
2010
13
Imaging evaluation in otosclerosis: single photon emission computed tomography and computed tomography. (20433019)
2010
14
TNF-alpha receptor expression correlates with histologic activity of otosclerosis. (19816227)
2009
15
A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis. (19230858)
2009
16
Audiovestibular function in patients with otosclerosis and balance disorders. (19638946)
2009
17
Post-traumatic otosclerosis: coincidence or trigger factor? (18777771)
2008
18
No evidence of linkage between 7q33-36 locus (OTSC2) and otosclerosis in seven British Caucasian pedigrees. (17908356)
2007
19
Cochlear implantation and far-advanced otosclerosis. (17245066)
2007
20
Using the Glasgow Benefit Plot as a prognostic instrument and for preoperative counseling in patients with otosclerosis. (17721362)
2007
21
Otosclerosis and stapes surgery. Proceedings of an international symposium. April 2004. Saas Fee, Switzerland. (17436426)
2007
22
"Otosclerosis surgery": a frequently used inaccurate expression. (16481836)
2006
23
Glucocorticoids inhibit diastrophic dysplasia sulfate transporter activity in otosclerosis by interleukin-6. (16954997)
2006
24
Relationship between CT densitometry with a slice thickness of 0.5 mm and audiometry in otosclerosis. (16532357)
2006
25
Quantification of angiogenesis in otosclerosis. (15867645)
2005
26
Effectiveness assessment of otosclerosis surgery. (16193586)
2005
27
In vivo performance of the Nitinol shape-memory stapes prosthesis during hearing restoration surgery in otosclerosis: a first report. (15497164)
2005
28
Fenestral and cochlear otosclerosis. (15174809)
2004
29
Correlation of CT analysis and audiometry in Japanese otosclerosis. (15121220)
2004
30
Cholesteatoma and otosclerosis: two slowly progressive causes of hearing loss treatable through corrective surgery. (15931303)
2003
31
Middle ear dynamic characteristics in patients with otosclerosis. (11951850)
2002
32
Incidence and characteristics of otosclerosis in the Japanese population. (12167447)
2002
33
Malleostapedotomy in revision surgery for otosclerosis. (11698795)
2001
34
Antimeasles immunoglobulin G in sera of patients with otosclerosis is lower than that in healthy people. (11698793)
2001
35
Genetic correlation in otosclerosis. (10203160)
1999
36
Otosclerosis and cochlear otosclerosis: a post mortem study on temporal bones. (11073125)
1999
37
Cochlear otosclerosis: the current understanding. (9865641)
1998
38
Localization of a gene for otosclerosis to chromosome 15q25-q26. (9425236)
1998
39
Far-advanced otosclerosis. (9742285)
1998
40
The bone anchored hearing aid--the third option for otosclerosis. (9015446)
1996
41
Surgical treatment of otosclerosis, a Sri Lankan experience. (7656362)
1995
42
Effect of drinking water fluoridation on hearing of patients with otosclerosis in a low fluoride area: a follow-up study. (8588612)
1994
43
Otosclerosis regrowth. (8246660)
1993
44
Stapedectomy. Causes of failure and revision surgery in otosclerosis. (8341574)
1993
45
Value of computed tomography (CT) in the diagnosis of cochlear otosclerosis. (8877220)
1993
46
Evaluation of cochlear function in a patient with "far-advanced" otosclerosis. (1415499)
1992
47
Effect of sodium fluoride on early stages of otosclerosis. (1882968)
1991
48
Fluoride therapy for otosclerosis. (2206512)
1990
49
Otosclerosis in multiple exostosis. (311806)
1979
50
The Treatment of Chronic Catarrhal Otitis Media (excluding Otosclerosis), and of Deafness and Dry Suppurative Otitis Media: (Section of Otology). (19989856)
1934

Genetic Variations for Otosclerosis

Expression for genes affiliated with Otosclerosis

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

Sources:
54Reactome, 38NCBI BioSystems Database, 50PharmGKB
See all sources

Compounds for genes affiliated with Otosclerosis

Sources:
11DrugBank, 45Novoseek, 60Tocris Bioscience, 29IUPHAR, 24HMDB, 50PharmGKB
See all sources

Compounds related to Otosclerosis according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1Collagenase1110.6COL1A2, COL1A1
2l-ascorbic acid 2-phosphate4510.6TGFB1, CD36
3nppa4510.6COL1A2, COL1A1
4carbodiimide4510.6COL1A1, COL1A2
5benzylamide4510.5CD36, TGFB1
6etidronate4510.5CD36, TNFRSF11B
7teriparatide45 1111.5CD36, TNFRSF11B
8ibandronate45 1111.5CD36, TNFRSF11B
9vitamin k24510.4CD36, TNFRSF11B
10nppb45 60 2912.4COL1A1, COL1A2
11hydroxyproline45 11 2412.3COL1A1, TNFRSF11B, CD36, TGFB1
12glycosaminoglycan4510.3TGFB1, CD36, COL1A1
13pamidronate45 50 1112.3TNFRSF11B, CD36
141,25 dihydroxy vitamin d34510.3COL1A1, TNFRSF11B, TGFB1
15ribonucleic acid4510.3COL1A2, COL1A1, NOG, TGFB1
16mithramycin4510.2TGFB1, COL1A2
17procollagen4510.2TGFB1, CD36, TNFRSF11B, COL1A1, COL1A2
18clodronate45 50 1112.2CD36, TNFRSF11B
19vitamin d4510.2COL1A2, COL1A1, TNFRSF11B, CD36, TGFB1
20ly2940024510.1TGFB1, CD36, TNFRSF11B, COL1A2
21risedronate45 60 50 29 1114.1CD36, TNFRSF11B
22dexamethasone45 50 29 1113.1TGFB1, NOG, SLC26A2, CD36, TNFRSF11B, COL1A1
23cysteine4510.0COL1A2, COL1A1, TNFRSF11B, CD36, SLC26A2, NOG
24pirfenidone45 6010.9TGFB1, CD36

GO Terms for genes affiliated with Otosclerosis

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Otosclerosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet