MCID: OTS001
MIFTS: 43

Otosclerosis malady

Genetic diseases, Ear diseases, Rare diseases categories

Aliases & Classifications for Otosclerosis

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Sources:
10Disease Ontology, 22GeneTests, 47Novoseek, 12DISEASES, 24GTR, 65UMLS, 36MeSH, 59SNOMED-CT, 29ICD9CM, 27ICD10
See all sources

Aliases & Descriptions for Otosclerosis:

Name: Otosclerosis 10 22 47 12 24 65 36


Classifications:



External Ids:

Disease Ontology10 DOID:12185
ICD9CM29 387.8
MeSH36 D010040
ICD1027 H80, H80.9

Summaries for Otosclerosis

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Disease Ontology:10 A labyrinthine disease characterized by an abnormal bone growth in the middle ear.

MalaCards based summary: Otosclerosis is related to labyrinthitis and diastrophic dysplasia. An important gene associated with Otosclerosis is COL1A1 (Collagen, Type I, Alpha 1), and among its related pathways are VEGFR3 signaling in lymphatic endothelium and Inflammatory Response Pathway. Affiliated tissues include bone, testes and t cells, and related mouse phenotypes are hearing/vestibular/ear and vision/eye.

Related Diseases for Otosclerosis

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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 98)
idRelated DiseaseScoreTop Affiliating Genes
1labyrinthitis30.3COL1A1, RELN
2diastrophic dysplasia30.1BMP2, SLC26A2, TGFB1
3osteogenesis imperfecta, type iv30.1COL1A1, COL1A2
4osteoporosis29.5BMP2, COL1A1, COL1A2, NOG, TGFB1, TNFRSF11B
5otosclerosis 110.6
6measles10.5
7otosclerosis 310.5
8otosclerosis 210.5
9sensorineural hearing loss10.4
10otosclerosis 410.4
11otosclerosis, familial10.4
12otosclerosis 1010.4
13otosclerosis 510.4
14otosclerosis 710.4
15otosclerosis 810.4
16auditory system disease10.3
17thrombocytopenia due to platelet alloimmunization10.2COL1A1, TGFB1
18ichthyosis with confetti10.2COL1A1, TGFB1
19immunodeficiency 28, mycobacteriosis10.2NOG, TGFB1
20ankylosis10.2
21osteolysis syndrome recessive10.2COL1A1, COL1A2
22classic rett syndrome10.2COL1A1, COL1A2
23congenital trigeminal anesthesia10.2COL1A1, COL1A2
24idiopathic linear interstitial keratitis10.2COL1A1, COL1A2
25pervasive developmental disorder not otherwise specified10.2COL1A1, COL1A2
26col4a1-related disorders10.2COL1A1, COL1A2
27eif4g1-related parkinson disease10.2COL1A1, COL1A2
28larsen-like syndrome10.2COL1A1, COL1A2
29ehlers-danlos syndrome, type viib10.2COL1A1, COL1A2
30autosomal dominant microcephaly10.2COL1A1, COL1A2
31caffey disease10.2COL1A1, COL1A2
32osteogenesis imperfecta, type ii10.1COL1A1, COL1A2
33mental retardation, autosomal recessive 3510.1COL1A1, COL1A2
34osteogenesis imperfecta, type iii10.1COL1A1, COL1A2
35otitis media10.1
36buschke-ollendorff syndrome10.1
37osteogenesis imperfecta10.1
38mastoiditis10.1
39ehlers-danlos syndrome10.1
40inner ear disease10.1
41labyrinthine disease10.1
42middle ear disease10.1
43neuroma10.1
44cogan-reese syndrome10.1COL1A1, COL1A2
45ehlers-danlos syndrome, classic type10.1COL1A1, COL1A2
46papillary cystadenocarcinoma10.1COL1A1, TGFB1
47xanthinuria10.1COL1A1, COL1A2
48osteogenesis imperfecta congenita microcephaly and cataracts10.1BMP2, TGFB1
49atherosclerosis10.1BMP2, NOG
50sclerosing hemangioma10.1COL1A1, COL1A2, TGFB1

Graphical network of the top 20 diseases related to Otosclerosis:



Diseases related to otosclerosis

Symptoms for Otosclerosis

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Drugs & Therapeutics for Otosclerosis

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Drugs for Otosclerosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcysteineapprovedPhase 4280616-91-112035
Synonyms:
(2R)-2-acetylamino-3-Sulfanylpropanoic acid
(R)-2-acetylamino-3-Mercaptopropanoic acid
(R)-Mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
 
Flumucetin
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Mercapturic acid
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
Sodium 2-acetamido-3-mercaptopropionate
2N-monoacetylcystinePhase 4280
3ExpectorantsPhase 4320
4Tiludronic acidPhase 32
5DiphosphonatesPhase 3369

Interventional clinical trials:

idNameStatusNCT IDPhase
1Efficacy of Acetylcysteine in Patients Undergoing Surgery for OtosclerosisCompletedNCT00525551Phase 4
2Hearing Aid Versus Surgical Rehabilitation as Treatment of Otosclerosis: Pilot StudyRecruitingNCT02456272Phase 3
3Therapeutic Efficacy of Tiludronic Acid on Inner Ear Involvement in Advanced OtosclerosisActive, not recruitingNCT01617057Phase 3
4Audiometric Parameters in Conductive Hearing Loss and Middle Ear DiseaseActive, not recruitingNCT00222417Phase 2, Phase 3
5Cone Beam and CT Scan for the Diagnosis of Otosclerosis (TACOS)Enrolling by invitationNCT02435446Phase 1
6Cone Beam CT for Diagnosis of Select Otorhinolaryngology (ENT) Indications at Lower DoseCompletedNCT01855425
7Objective Measurement of Ossicular Chain Mobility Using a Palpating Instrument IntraoperativelyCompletedNCT02554422
8Clinical Assessment of the External Sound Processor Worn by Patients Implanted With CodacsCompletedNCT02156167
9Taste Disorders in Middle Ear Disease and After Middle Ear SurgeryRecruitingNCT01584011
10Comprehensive Wide Bandwidth Test Battery of Auditory Function in VeteransEnrolling by invitationNCT02019888

Search NIH Clinical Center for Otosclerosis


Cochrane evidence based reviews: Otosclerosis

Genetic Tests for Otosclerosis

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Genetic tests related to Otosclerosis:

id Genetic test Affiliating Genes
1 Otosclerosis22 24

Anatomical Context for Otosclerosis

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MalaCards organs/tissues related to Otosclerosis:

33
Bone, Testes, T cells, Cortex, Eye

Animal Models for Otosclerosis or affiliated genes

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MGI Mouse Phenotypes related to Otosclerosis:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.6BMP2, BMP4, COL1A1, NOG, TNFRSF11B
2MP:00053918.3BMP4, COL1A1, NOG, RELN, TGFB1
3MP:00053698.2BMP4, COL1A1, COL1A2, NOG, RELN, TGFB1
4MP:00053818.0BMP2, BMP4, COL1A1, NOG, RELN, TGFB1
5MP:00053908.0BMP2, BMP4, COL1A1, COL1A2, NOG, SLC26A2
6MP:00053717.9BMP2, BMP4, COL1A1, COL1A2, NOG, SLC26A2
7MP:00053827.8BMP2, BMP4, COL1A1, NOG, SLC26A2, TGFB1
8MP:00107717.7BMP4, COL1A1, COL1A2, NOG, RELN, TGFB1
9MP:00053857.6BMP2, BMP4, COL1A1, COL1A2, NOG, TGFB1
10MP:00053896.9BMP2, BMP4, CD46, COL1A1, NOG, RELN
11MP:00053846.8BMP2, BMP4, COL1A1, COL1A2, NOG, RELN
12MP:00107686.7BMP2, BMP4, COL1A1, COL1A2, NOG, RELN
13MP:00053786.5BMP2, BMP4, COL1A1, COL1A2, NOG, RELN

Publications for Otosclerosis

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Articles related to Otosclerosis:

(show top 50)    (show all 535)
idTitleAuthorsYear
1
A systematic review of the effect of different crimping techniques in stapes surgery for otosclerosis. (26333166)
2015
2
Quantitative assessment of vestibular otopathology in otosclerosis: A temporal bone study. (26309142)
2015
3
Analysis of the Hyalinization Reaction in Otosclerosis. (24744179)
2014
4
Evaluation of vascular activity in otosclerosis by laser Doppler flowmetry: comparison with computed tomographic densitometry. (24136322)
2013
5
Outcome of management of otosclerosis by stapedotomy compared to stapedectomy in a jordanian population. (23386943)
2013
6
The role of imaging in the diagnosis and management of otosclerosis. (23921926)
2013
7
Are computed tomography and densitometric measurements useful in otosclerosis with mixed hearing loss? A retrospective clinical study. (24096812)
2013
8
Comments on 'Stapes surgery in profound hearing loss due to otosclerosis'. (23444485)
2013
9
Predictors of listening capabilities and patient satisfaction after stapes surgery in otosclerosis. (23295729)
2013
10
Oval window niche height: quantitative evaluation with CT before stapes surgery for otosclerosis. (23179652)
2013
11
Mild form of treacher collins syndrome imitating juvenile otosclerosis. (22953143)
2012
12
Functional hearing results in patients with otosclerosis before and after stapedotomy. (22452241)
2012
13
Evolution of otosclerosis to cochlear implantation. (22425206)
2012
14
Phenotype of the first otosclerosis family linked to OTSC10. (21433022)
2011
15
New bone formation in patients with cochlear implants and otosclerosis. (21892123)
2011
16
Primary stapes surgery in patients with otosclerosis: prediction of postoperative outcome. (21768405)
2011
17
Superior canal dehiscence in a patient with three failed stapedectomy operations for otosclerosis: a case report. (21291515)
2011
18
Otosclerosis 2: the medical management of otosclerosis. (20089010)
2010
19
Results of stapedotomy in otosclerosis with severe and profound hearing loss. (20470668)
2010
20
No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population. (19503013)
2009
21
Superior semicircular canal dehiscence: prevalence in a population with clinical suspected otosclerosis-type hearing loss. (19670595)
2009
22
Variations in the "Carhart notch" and overclosure after laser-assisted stapedotomy in otosclerosis. (18957900)
2009
23
Audiological evaluation of patients with otosclerosis. (17245032)
2007
24
Otosclerosis of the incus. (17414034)
2007
25
No evidence of linkage between 7q33-36 locus (OTSC2) and otosclerosis in seven British Caucasian pedigrees. (17908356)
2007
26
Distortion product otoacoustic emissions in otosclerosis: intraoperative findings. (17245034)
2007
27
Far-advanced otosclerosis and cochlear implantation. (17685047)
2007
28
Vestibular-evoked myogenic potentials in patients with otosclerosis using air- and bone-conducted tone-burst stimulation. (17106429)
2007
29
Revision cochlear implantation for facial nerve stimulation in otosclerosis. (16618909)
2006
30
Quantification of angiogenesis in otosclerosis. (15867645)
2005
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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Search GEO for disease gene expression data for Otosclerosis.

Pathways for genes affiliated with Otosclerosis

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GO Terms for genes affiliated with Otosclerosis

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

idNameGO IDScoreTop Affiliating Genes
1collagen type I trimerGO:000558410.6COL1A1, COL1A2
2proteinaceous extracellular matrixGO:00055788.3BMP4, COL1A1, RELN, TGFB1, TNFRSF11B
3extracellular regionGO:00055767.2BMP2, BMP4, COL1A1, COL1A2, NOG, TGFB1
4extracellular spaceGO:00056156.9BMP2, BMP4, COL1A1, COL1A2, NOG, RELN

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

(show top 50)    (show all 58)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:004358910.6COL1A1, COL1A2
2protein heterotrimerizationGO:007020810.4COL1A1, COL1A2
3positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.3NOG, TGFB1
4common-partner SMAD protein phosphorylationGO:000718210.2BMP4, TGFB1
5regulation of protein import into nucleusGO:004230610.2BMP4, TGFB1
6regulation of cartilage developmentGO:006103510.2BMP4, TGFB1
7lung morphogenesisGO:006042510.2BMP4, NOG
8anatomical structure formation involved in morphogenesisGO:004864610.2BMP4, NOG
9positive regulation of collagen biosynthetic processGO:003296710.1BMP4, TGFB1
10positive regulation of SMAD protein import into nucleusGO:006039110.1BMP4, TGFB1
11pituitary gland developmentGO:002198310.1BMP4, NOG
12mesenchymal cell differentiationGO:004876210.1BMP2, NOG
13pathway-restricted SMAD protein phosphorylationGO:006038910.0BMP2, TGFB1
14negative regulation of myoblast differentiationGO:004566210.0BMP4, TGFB1
15positive regulation of odontogenesisGO:00424829.9BMP2, TGFB1
16endochondral ossificationGO:00019589.9BMP4, COL1A1
17BMP signaling pathway involved in heart inductionGO:00031309.9BMP2, BMP4
18telencephalon regionalizationGO:00219789.9BMP2, BMP4
19regulation of odontogenesis of dentin-containing toothGO:00424879.9BMP2, BMP4
20mesenchymal cell proliferation involved in ureteric bud developmentGO:00721389.9BMP2, BMP4
21positive regulation of ossificationGO:00457789.9BMP2, BMP4
22face morphogenesisGO:00603259.8COL1A1, NOG, TGFB1
23embryonic skeletal joint morphogenesisGO:00602729.8BMP4, NOG
24positive regulation of cartilage developmentGO:00610369.8BMP2, BMP4
25positive regulation of epithelial to mesenchymal transitionGO:00107189.7BMP2, COL1A1, TGFB1
26positive regulation of epithelial cell proliferationGO:00506799.7BMP4, NOG, TGFB1
27embryonic skeletal system developmentGO:00487069.7BMP4, COL1A1, NOG
28epithelial to mesenchymal transitionGO:00018379.6BMP2, NOG, TGFB1
29ureteric bud developmentGO:00016579.6BMP4, NOG, TGFB1
30response to estradiolGO:00323559.5BMP4, COL1A1, TGFB1
31blood vessel developmentGO:00015689.4BMP4, COL1A1, COL1A2
32growthGO:00400079.4BMP2, BMP4, TGFB1
33positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.4BMP2, BMP4, TGFB1
34forebrain developmentGO:00309009.4BMP4, NOG, RELN
35positive regulation of bone mineralizationGO:00305019.4BMP2, BMP4, TGFB1
36negative regulation of cell cycleGO:00457869.4BMP2, BMP4, TGFB1
37SMAD protein signal transductionGO:00603959.4BMP2, BMP4, TGFB1
38positive regulation of protein phosphorylationGO:00019349.3BMP2, BMP4, TGFB1
39BMP signaling pathwayGO:00305099.3BMP2, BMP4, NOG
40cellular response to growth factor stimulusGO:00713639.2BMP2, BMP4, TGFB1
41cellular response to BMP stimulusGO:00717739.1BMP2, BMP4, NOG
42chondrocyte differentiationGO:00020629.1BMP2, BMP4, TGFB1
43osteoblast differentiationGO:00016499.0BMP2, BMP4, COL1A1, NOG
44positive regulation of cell migrationGO:00303359.0BMP2, BMP4, COL1A1, TGFB1
45wound healingGO:00420608.8BMP4, COL1A1, NOG, TGFB1
46regulation of gene expressionGO:00104688.7BMP4, RELN, TGFB1
47positive regulation of gene expressionGO:00106288.4BMP2, BMP4, CD46, TGFB1
48negative regulation of gene expressionGO:00106298.1BMP2, BMP4, CD46, NOG, TGFB1
49skeletal system developmentGO:00015018.1BMP2, BMP4, COL1A1, COL1A2, NOG, TNFRSF11B
50extracellular matrix organizationGO:00301987.8BMP2, BMP4, COL1A1, COL1A2, TGFB1, TNFRSF11B

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

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:00484079.9COL1A1, COL1A2
2co-receptor bindingGO:00397069.7BMP2, BMP4
3transforming growth factor beta receptor bindingGO:00051609.7BMP2, BMP4
4BMP receptor bindingGO:00707009.7BMP2, BMP4
5growth factor activityGO:00080838.9BMP2, BMP4, TGFB1
6cytokine activityGO:00051258.6BMP2, BMP4, TGFB1, TNFRSF11B

Sources for Otosclerosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet