MCID: OTS001
MIFTS: 46

Otosclerosis malady

Genetic diseases, Ear diseases, Rare diseases categories

Aliases & Classifications for Otosclerosis

About this section
Sources:
8Disease Ontology, 20GeneTests, 10DISEASES, 44Novoseek, 22GTR, 61UMLS, 33MeSH, 56SNOMED-CT, 27ICD9CM, 25ICD10
See all sources

Aliases & Descriptions for Otosclerosis:

Name: Otosclerosis 8 20 10 44 22 61


Classifications:



External Ids:

Disease Ontology8 DOID:12185
MeSH33 D010040
ICD9CM27 387.8
ICD1025 H80, H80.9

Summaries for Otosclerosis

About this section
Wikipedia:64 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. 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.

Disease Ontology:8 A labyrinthine disease characterized by an abnormal bone growth in the middle ear.

Related Diseases for Otosclerosis

About this section

Diseases in the Otosclerosis family:

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

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

(show top 50)    (show all 58)
idRelated DiseaseScoreTop Affiliating Genes
1ankylosis30.8NOG
2ehlers-danlos syndrome30.2COL1A2, COL1A1
3osteogenesis imperfecta30.2COL1A2, COL1A1
4osteogenesis imperfecta, type i30.1COL1A2, COL1A1
5osteoporosis30.1TNFRSF11B, COL1A1
6osteogenesis imperfecta, type iv30.1COL1A2, COL1A1
7measles10.5
8otosclerosis 110.5
9otosclerosis 310.4
10sensorineural hearing loss10.4
11otosclerosis 210.4
12otosclerosis, familial10.4
13otosclerosis 710.3
14otosclerosis 810.3
15otosclerosis 410.3
16otosclerosis 1010.3
17otosclerosis 510.3
18endolymphatic hydrops10.3
19col1a1/2-related osteogenesis imperfecta10.2COL1A2, COL1A1
20osteogenesis imperfecta, type ii10.1COL1A2, COL1A1
21osteogenesis imperfecta, type iii10.1COL1A1, COL1A2
22ehlers-danlos syndrome, type i10.1COL1A1, COL1A2
23dentinogenesis imperfecta10.1COL1A2, COL1A1
24systemic scleroderma10.1COL1A2, COL1A1
25diastrophic dysplasia10.1
26neuroma10.1
27otitis media10.1
28gingival overgrowth10.0TGFB1, COL1A1
29connective tissue disease10.0COL1A2, COL1A1
30glomerulosclerosis10.0TGFB1, COL1A2
31cystic fibrosis10.0COL1A2, TNFRSF11B
32pulmonary disease, chronic obstructive10.0COL1A1, TGFB1
33charge syndrome9.9
34chondrosarcoma9.9
35melkersson-rosenthal syndrome9.9
36buschke-ollendorff syndrome9.9
37obsessive-compulsive disorder9.9
38camurati-engelmann disease9.9
39fabry disease9.9
40spinal stenosis9.9
41esophageal atresia9.9
42acoustic neuroma9.9
43urticaria pigmentosa9.9
44cholesteatoma9.9
45esophagitis9.9
46exostosis9.9
47labyrinthitis9.9
48meniere's disease9.9
49middle ear disease9.9
50suppurative otitis media9.9

Graphical network of the top 20 diseases related to Otosclerosis:



Diseases related to otosclerosis

Symptoms for Otosclerosis

About this section

Drugs & Therapeutics for Otosclerosis

About this section

Drug clinical trials:

Search ClinicalTrials for Otosclerosis

Search NIH Clinical Center for Otosclerosis

Genetic Tests for Otosclerosis

About this section

Genetic tests related to Otosclerosis:

id Genetic test Affiliating Genes
1 Otosclerosis20 22

Anatomical Context for Otosclerosis

About this section

MalaCards organs/tissues related to Otosclerosis:

31
Bone, Testes, Eye, Cortex, T cells

Animal Models for Otosclerosis or affiliated genes

About this section

Publications for Otosclerosis

About this section

Articles related to Otosclerosis:

(show top 50)    (show all 520)
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

About this section

Expression for genes affiliated with Otosclerosis

About this section
Search GEO for disease gene expression data for Otosclerosis.

Pathways for genes affiliated with Otosclerosis

About this section

Pathways related to Otosclerosis according to GeneCards Suite gene sharing:

(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
Metalloproteases in connective tissue degradation
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

About this section

Compounds related to Otosclerosis according to GeneCards Suite gene sharing:

(show all 36)
idCompoundScoreTop Affiliating Genes
1mithramycin449.9COL1A2, TGFB1
2nppa449.8COL1A1, COL1A2
3carbodiimide449.8COL1A2, COL1A1
4nppb28 44 6011.8COL1A1, COL1A2
5xbai449.8COL1A2, COL1A1
6ecori449.8COL1A1, COL1A2
7rsai449.8COL1A2, COL1A1
8mspi449.7COL1A2, COL1A1
9bleomycin44 1110.5COL1A1, TGFB1
10pmma449.5TGFB1, TNFRSF11B
11glycosaminoglycan449.4COL1A1, TGFB1
12ns 39844 6010.4TNFRSF11B, TGFB1
133-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide449.4TGFB1, TNFRSF11B
14azathioprine44 1 50 1112.3TNFRSF11B, NOG
15thymidine44 2410.2TGFB1, COL1A2, COL1A1
16simvastatin44 50 60 28 24 1114.1COL1A2, COL1A1
17dihydrotestosterone44 28 24 1112.1TNFRSF11B, TGFB1
18thyroxine44 2410.1TGFB1, TNFRSF11B
19oligonucleotide449.1COL1A1, COL1A2, TGFB1
20ly294002449.0TNFRSF11B, COL1A2, TGFB1
21tgf beta1449.0TNFRSF11B, TGFB1
22hydroxyproline44 24 1110.9TNFRSF11B, TGFB1, COL1A1
231,25 dihydroxy vitamin d3448.9TNFRSF11B, TGFB1, COL1A1
24cycloheximide448.9TNFRSF11B, NOG, TGFB1
25ribonucleic acid448.9COL1A2, TGFB1, COL1A1, NOG
26aspartate448.9COL1A2, COL1A1, TNFRSF11B
27pge2448.8COL1A1, TNFRSF11B, TGFB1
28procollagen448.5TNFRSF11B, TGFB1, COL1A2, COL1A1
29vitamin d448.5COL1A1, COL1A2, TGFB1, TNFRSF11B
30estrogen448.5COL1A2, COL1A1, TGFB1, TNFRSF11B
31vegf448.4COL1A1, TGFB1, TNFRSF11B, NOG
32retinoic acid44 249.4COL1A1, TGFB1, TNFRSF11B, NOG
33calcium44 50 24 1111.2TNFRSF11B, NOG, COL1A2, COL1A1
34cysteine448.0SLC26A2, NOG, COL1A2, COL1A1, TNFRSF11B
35serine448.0NOG, TNFRSF11B, TGFB1, COL1A1, COL1A2
36dexamethasone44 50 28 1110.9NOG, SLC26A2, TNFRSF11B, COL1A1, TGFB1

GO Terms for genes affiliated with Otosclerosis

About this section

Cellular components related to Otosclerosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen type IGO:00055849.4COL1A2, COL1A1
2extracellular matrixGO:00310129.4COL1A2, COL1A1
3extracellular spaceGO:00056157.5NOG, COL1A2, COL1A1, TGFB1, TNFRSF11B
4extracellular regionGO:00055767.3TNFRSF11B, TGFB1, COL1A1, COL1A2, NOG

Biological processes related to Otosclerosis according to GeneCards Suite gene sharing:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of branching involved in ureteric bud morphogenesisGO:00901909.8NOG, TGFB1
2skin morphogenesisGO:00435899.8COL1A2, COL1A1
3epithelial to mesenchymal transitionGO:00018379.8NOG, TGFB1
4protein heterotrimerizationGO:00702089.8COL1A1, COL1A2
5collagen fibril organizationGO:00301999.7COL1A1, COL1A2
6blood vessel developmentGO:00015689.7COL1A1, COL1A2
7embryonic skeletal system developmentGO:00487069.7NOG, COL1A1
8cellular response to amino acid stimulusGO:00712309.7COL1A2, COL1A1
9positive regulation of epithelial cell proliferationGO:00506799.7NOG, TGFB1
10positive regulation of epithelial to mesenchymal transitionGO:00107189.6TGFB1, COL1A1
11osteoblast differentiationGO:00016499.6NOG, COL1A1
12collagen catabolic processGO:00305749.6COL1A1, COL1A2
13extracellular matrix disassemblyGO:00226179.4COL1A2, COL1A1
14response to estradiolGO:00323559.4COL1A1, TGFB1
15leukocyte migrationGO:00509009.3COL1A1, COL1A2
16positive regulation of cell migrationGO:00303359.3COL1A1, TGFB1
17transforming growth factor beta receptor signaling pathwayGO:00071799.2COL1A2, TGFB1
18platelet activationGO:00301689.2COL1A2, COL1A1, TGFB1
19face morphogenesisGO:00603259.2NOG, COL1A1, TGFB1
20response to nutrientGO:00075849.1TNFRSF11B, COL1A1
21blood coagulationGO:00075969.1TGFB1, COL1A1, COL1A2
22skeletal system developmentGO:00015018.5NOG, COL1A2, COL1A1, TNFRSF11B
23extracellular matrix organizationGO:00301988.4TNFRSF11B, TGFB1, COL1A1, COL1A2

Molecular functions related to Otosclerosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.4COL1A2, COL1A1
2platelet-derived growth factor bindingGO:00484079.1COL1A2, COL1A1

Sources for Otosclerosis

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet