MCID: OTS001
MIFTS: 55

Otosclerosis malady

Categories: Genetic diseases, Ear diseases, Rare diseases

Aliases & Classifications for Otosclerosis

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Aliases & Descriptions for Otosclerosis:

Name: Otosclerosis 10 22 47 12 24 65

Classifications:



External Ids:

Disease Ontology10 DOID:12185
ICD9CM29 387.8
UMLS65 C0029696, C0029899

Summaries for Otosclerosis

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Wikipedia:68 Otosclerosis or otospongiosis is an abnormal growth of bone near the middle ear. It can result in... more...

MalaCards based summary: Otosclerosis is related to ankylosis and otosclerosis 1, and has symptoms including earacheand earache. An important gene associated with Otosclerosis is COL1A1 (Collagen Type I Alpha 1), and among its related pathways are Cell adhesion_Endothelial cell contacts by non-junctional mechanisms and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include bone, lung and breast, and related mouse phenotypes are integument and muscle.

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

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 84)
idRelated DiseaseScoreTop Affiliating Genes
1ankylosis29.8COL1A1, COL1A2, SLC26A2
2otosclerosis 112.2
3otosclerosis 1012.1
4otosclerosis 312.1
5otosclerosis 212.1
6otosclerosis, familial12.0
7otosclerosis 511.9
8otosclerosis 711.9
9otosclerosis 811.9
10otosclerosis 411.9
11laryngeal tuberculosis10.6COL1A1, TGFB1
12ichthyosis with confetti10.6COL1A1, TGFB1
13dysgraphia10.5COL1A1, RELN
14congenital trigeminal anesthesia10.5COL1A1, COL1A2
15immunodeficiency 28, mycobacteriosis10.5NOG, TGFB1
16col4a1-related disorders10.5COL1A1, COL1A2
17idiopathic linear interstitial keratitis10.5COL1A1, COL1A2
18eif4g1-related parkinson disease10.5COL1A1, COL1A2
19osteogenesis imperfecta, type iv10.5COL1A1, COL1A2
20autosomal dominant microcephaly10.5COL1A1, COL1A2
21caffey disease10.5COL1A1, COL1A2
22buschke-ollendorff syndrome10.5
23ehlers-danlos syndrome, cardiac valvular form10.4COL1A1, COL1A2
24mental retardation, autosomal recessive 3510.4COL1A1, COL1A2
25giant hemangioma10.4COL1A1, TGFB1
26osteogenesis imperfecta, type ii10.4COL1A1, COL1A2
27osteogenesis imperfecta, type iii10.4COL1A1, COL1A2
28lymph node adenoid cystic carcinoma10.4COL1A1, COL1A2
29ehlers-danlos syndrome, classic type10.4COL1A1, COL1A2
30branchiootic syndrome10.4COL1A1, COL1A2
31sclerocornea10.4COL1A1, NOG
32measles10.3
33anterior cruciate ligament tears10.3COL1A1, COL1A2
34depressed scar10.2COL1A1, COL1A2
35atherosclerosis10.2BMP2, NOG
36sensorineural hearing loss10.2
37sezary's disease10.2COL1A1, COL1A2, TGFB1
38mucocele of appendix10.1BMP2, TNFRSF11B
39osteoporosis10.0
40vulvovaginal candidiasis10.0NOG, TNFRSF11B
41darier disease10.0COL1A1, COL1A2, SLC26A2
42bone structure disease10.0BMP2, TNFRSF11B
43secondary corneal edema9.9BMP4, TGFB1
44diastrophic dysplasia9.9
45otitis media9.9
46mastoiditis9.9
47osteogenesis imperfecta9.9
48ehlers-danlos syndrome9.9
49neuroma9.9
50chromosomal disease9.8BMP2, COL1A1, TNFRSF11B

Graphical network of the top 20 diseases related to Otosclerosis:



Diseases related to otosclerosis

Symptoms for Otosclerosis

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UMLS symptoms related to Otosclerosis:


earache

Drugs & Therapeutics for Otosclerosis

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcysteineapprovedPhase 4293616-91-112035
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
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
 
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
2Protective AgentsPhase 45651
3Respiratory System AgentsPhase 43931
4ExpectorantsPhase 4337
5N-monoacetylcystinePhase 4293
6Antiviral AgentsPhase 48071
7Anti-Infective AgentsPhase 417220
8AntioxidantsPhase 42442
9Tiludronic acidPhase 32
10Bone Density Conservation AgentsPhase 32600
11DiphosphonatesPhase 3381

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
3Audiometric Parameters in Conductive Hearing Loss and Middle Ear DiseaseActive, not recruitingNCT00222417Phase 2, Phase 3
4Therapeutic Efficacy of Tiludronic Acid on Inner Ear Involvement in Advanced OtosclerosisTerminatedNCT01617057Phase 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

Genetic Tests for Otosclerosis

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Genetic tests related to Otosclerosis:

id Genetic test Affiliating Genes
1 Otosclerosis22

Anatomical Context for Otosclerosis

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MalaCards organs/tissues related to Otosclerosis:

33
Bone, Lung, Breast, T cells, Liver, Pituitary, Testes

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:00107718.3BMP4, COL1A1, COL1A2, NOG, RELN, TGFB1
2MP:00053698.1BMP4, COL1A1, COL1A2, NOG, RELN, TGFB1
3MP:00053718.0BMP2, BMP4, COL1A1, COL1A2, NOG, SLC26A2
4MP:00053777.9BMP2, BMP4, COL1A1, NOG, TNFRSF11B
5MP:00053817.9BMP2, BMP4, COL1A1, NOG, RELN, TGFB1
6MP:00053917.8BMP4, CD46, COL1A1, NOG, RELN, TGFB1
7MP:00053827.6BMP2, BMP4, COL1A1, NOG, SLC26A2, TGFB1
8MP:00053897.2BMP2, BMP4, CD46, COL1A1, NOG, RELN
9MP:00053907.1BMP2, BMP4, COL1A1, COL1A2, NOG, SLC26A2
10MP:00053846.9BMP2, BMP4, COL1A1, COL1A2, NOG, RELN
11MP:00107686.7BMP2, BMP4, COL1A1, COL1A2, NOG, RELN
12MP:00053786.6BMP2, BMP4, COL1A1, COL1A2, NOG, RELN
13MP:00053856.5BMP2, BMP4, CD46, COL1A1, COL1A2, NOG

Publications for Otosclerosis

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Articles related to Otosclerosis:

(show top 50)    (show all 557)
idTitleAuthorsYear
1
A systematic review of the effect of different crimping techniques in stapes surgery for otosclerosis. (26333166)
2015
2
Numerical study of Hough technique in surgery of otosclerosis, using the finite element method. (26899201)
2015
3
Quantitative assessment of vestibular otopathology in otosclerosis: A temporal bone study. (26309142)
2015
4
Otosclerosis and Fitness to Fly. (26630051)
2015
5
Analysis of the Hyalinization Reaction in Otosclerosis. (24744179)
2014
6
Evaluation of vascular activity in otosclerosis by laser Doppler flowmetry: comparison with computed tomographic densitometry. (24136322)
2013
7
Outcome of management of otosclerosis by stapedotomy compared to stapedectomy in a jordanian population. (23386943)
2013
8
The role of imaging in the diagnosis and management of otosclerosis. (23921926)
2013
9
Are computed tomography and densitometric measurements useful in otosclerosis with mixed hearing loss? A retrospective clinical study. (24096812)
2013
10
Comments on 'Stapes surgery in profound hearing loss due to otosclerosis'. (23444485)
2013
11
Predictors of listening capabilities and patient satisfaction after stapes surgery in otosclerosis. (23295729)
2013
12
Oval window niche height: quantitative evaluation with CT before stapes surgery for otosclerosis. (23179652)
2013
13
Mild form of treacher collins syndrome imitating juvenile otosclerosis. (22953143)
2012
14
Functional hearing results in patients with otosclerosis before and after stapedotomy. (22452241)
2012
15
Evolution of otosclerosis to cochlear implantation. (22425206)
2012
16
Phenotype of the first otosclerosis family linked to OTSC10. (21433022)
2011
17
New bone formation in patients with cochlear implants and otosclerosis. (21892123)
2011
18
Primary stapes surgery in patients with otosclerosis: prediction of postoperative outcome. (21768405)
2011
19
Superior canal dehiscence in a patient with three failed stapedectomy operations for otosclerosis: a case report. (21291515)
2011
20
Otosclerosis 2: the medical management of otosclerosis. (20089010)
2010
21
Results of stapedotomy in otosclerosis with severe and profound hearing loss. (20470668)
2010
22
No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population. (19503013)
2009
23
Superior semicircular canal dehiscence: prevalence in a population with clinical suspected otosclerosis-type hearing loss. (19670595)
2009
24
Variations in the "Carhart notch" and overclosure after laser-assisted stapedotomy in otosclerosis. (18957900)
2009
25
Audiological evaluation of patients with otosclerosis. (17245032)
2007
26
Otosclerosis of the incus. (17414034)
2007
27
No evidence of linkage between 7q33-36 locus (OTSC2) and otosclerosis in seven British Caucasian pedigrees. (17908356)
2007
28
Distortion product otoacoustic emissions in otosclerosis: intraoperative findings. (17245034)
2007
29
Far-advanced otosclerosis and cochlear implantation. (17685047)
2007
30
Vestibular-evoked myogenic potentials in patients with otosclerosis using air- and bone-conducted tone-burst stimulation. (17106429)
2007
31
Revision cochlear implantation for facial nerve stimulation in otosclerosis. (16618909)
2006
32
Quantification of angiogenesis in otosclerosis. (15867645)
2005
33
Outcome of stapes surgery for otosclerosis. (15559166)
2004
34
Fenestral and cochlear otosclerosis. (15174809)
2004
35
Association of otosclerosis with Sp1 binding site polymorphism in COL1A1 gene: evidence for a shared genetic etiology with osteoporosis. (15241219)
2004
36
Characteristics and postoperative course of tinnitus in otosclerosis. (12544028)
2003
37
Otosclerosis and chronic tinnitus. (12784976)
2003
38
The anterior and superior malleal ligaments in otosclerosis: a histopathologic observation. (12438846)
2002
39
Prevalence of otosclerosis in an unselected series of temporal bones. (11568664)
2001
40
Imaging quiz case 1. Displaced stapes prosthesis; otosclerosis. (9932597)
1999
41
Hearing results in otosclerosis surgery after partial stapedectomy, total stapedectomy and stapedotomy. (9039488)
1997
42
Surgery in elderly patients with otosclerosis. (8588657)
1995
43
Magnetic resonance imaging of cochlear otosclerosis. (7574263)
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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Pathways related to Otosclerosis according to GeneCards Suite gene sharing:

(show all 23)
idSuper pathwaysScoreTop Affiliating Genes
19.9COL1A1, COL1A2
29.9COL1A1, COL1A2
39.9COL1A1, COL1A2
49.9COL1A1, COL1A2
59.8COL1A1, TNFRSF11B
69.4COL1A1, COL1A2, TGFB1
79.4COL1A1, COL1A2, TGFB1
8
Show member pathways
9.3COL1A1, COL1A2, RELN
99.3BMP2, BMP4
109.1BMP2, COL1A1, TGFB1
119.1BMP4, NOG, TGFB1
129.1BMP4, NOG, TGFB1
139.1BMP4, NOG, TGFB1
148.9BMP2, BMP4, TGFB1
158.9BMP2, BMP4, TGFB1
16
Show member pathways
8.9BMP2, BMP4, TGFB1
178.9BMP2, BMP4, TGFB1
188.5BMP2, BMP4, NOG, TGFB1
19
Show member pathways
8.5BMP2, BMP4, NOG, TGFB1
20
Show member pathways
8.5BMP2, BMP4, NOG, TGFB1
21
Show member pathways
8.5BMP2, BMP4, NOG, TGFB1
22
Show member pathways
8.3BMP2, BMP4, COL1A1, COL1A2, TGFB1
23
Show member pathways
8.3BMP2, BMP4, COL1A1, COL1A2, TGFB1

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:00055849.9COL1A1, COL1A2

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

(show top 50)    (show all 67)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.3NOG, TGFB1
2endochondral ossificationGO:000195810.3BMP4, COL1A1
3common-partner SMAD protein phosphorylationGO:000718210.2BMP4, TGFB1
4regulation of cartilage developmentGO:006103510.2BMP4, TGFB1
5embryonic skeletal joint morphogenesisGO:006027210.1BMP4, NOG
6regulation of protein import into nucleusGO:004230610.1BMP4, TGFB1
7pituitary gland developmentGO:002198310.1BMP4, NOG
8skin morphogenesisGO:004358910.1COL1A1, COL1A2
9positive regulation of SMAD protein import into nucleusGO:006039110.1BMP4, TGFB1
10positive regulation of epithelial cell proliferationGO:005067910.1BMP4, NOG
11pathway-restricted SMAD protein phosphorylationGO:006038910.0BMP2, TGFB1
12negative regulation of myoblast differentiationGO:004566210.0BMP4, TGFB1
13BMP signaling pathway involved in heart inductionGO:000313010.0BMP2, BMP4
14positive regulation of cartilage developmentGO:006103610.0BMP2, BMP4
15mesoderm formationGO:000170710.0BMP4, NOG
16cellular response to BMP stimulusGO:007177310.0BMP4, NOG
17mesenchymal cell proliferation involved in ureteric bud developmentGO:00721389.9BMP2, BMP4
18regulation of odontogenesis of dentin-containing toothGO:00424879.9BMP2, BMP4
19hematopoietic progenitor cell differentiationGO:00022449.9BMP4, TGFB1
20positive regulation of bone mineralizationGO:00305019.9BMP4, TGFB1
21telencephalon developmentGO:00215379.9BMP2, BMP4
22positive regulation of ossificationGO:00457789.8BMP2, BMP4
23face morphogenesisGO:00603259.8COL1A1, NOG, TGFB1
24platelet activationGO:00301689.8COL1A1, COL1A2, TGFB1
25wound healingGO:00420609.8BMP4, COL1A1, NOG
26embryonic skeletal system developmentGO:00487069.8BMP4, COL1A1, NOG
27blood coagulationGO:00075969.8COL1A1, COL1A2, TGFB1
28negative regulation of epithelial cell proliferationGO:00506809.6BMP4, TGFB1
29skeletal system developmentGO:00015019.6BMP4, COL1A2, NOG
30forebrain developmentGO:00309009.6BMP4, NOG, RELN
31regulation of gene expressionGO:00104689.5BMP4, RELN, TGFB1
32epithelial to mesenchymal transitionGO:00018379.4BMP2, NOG, TGFB1
33anatomical structure formation involved in morphogenesisGO:00486469.4BMP4, NOG
34chondrocyte differentiationGO:00020629.4BMP2, BMP4, TGFB1
35BMP signaling pathwayGO:00305099.4BMP2, BMP4, NOG
36SMAD protein signal transductionGO:00603959.3BMP2, BMP4, TGFB1
37positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.3BMP2, BMP4, TGFB1
38positive regulation of epithelial to mesenchymal transitionGO:00107189.3BMP2, COL1A1, TGFB1
39growthGO:00400079.3BMP2, BMP4, TGFB1
40inflammatory responseGO:00069549.3BMP2, TGFB1, TNFRSF11B
41positive regulation of protein phosphorylationGO:00019349.2BMP2, BMP4, TGFB1
42response to estradiolGO:00323559.2BMP4, COL1A1, TGFB1
43negative regulation of cell proliferationGO:00082859.2BMP2, BMP4, TGFB1
44positive regulation of transcription, DNA-templatedGO:00458939.0BMP2, BMP4, COL1A1, TGFB1
45positive regulation of cell migrationGO:00303358.9BMP2, BMP4, COL1A1, TGFB1
46positive regulation of gene expressionGO:00106288.9BMP2, BMP4, TGFB1
47negative regulation of transcription from RNA polymerase II promoterGO:00001228.7BMP2, BMP4, NOG, TGFB1
48extracellular matrix organizationGO:00301988.3BMP2, BMP4, COL1A1, TGFB1, TNFRSF11B
49osteoblast differentiationGO:00016498.3BMP2, BMP4, COL1A1, NOG
50negative regulation of gene expressionGO:00106297.9BMP2, BMP4, CD46, NOG, TGFB1

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