MCID: OTS001
MIFTS: 33

Otosclerosis malady

Categories: Genetic diseases, Ear diseases, Rare diseases

Aliases & Classifications for Otosclerosis

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Aliases & Descriptions for Otosclerosis:

Name: Otosclerosis 11 23 13 25 48 66

Classifications:



External Ids:

Disease Ontology11 DOID:12185
ICD9CM30 387.8

Summaries for Otosclerosis

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Wikipedia:69 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 otosclerosis 1 and otosclerosis 10, and has symptoms including earache and earache. An important gene associated with Otosclerosis is COL1A1 (Collagen Type I Alpha 1 Chain). Affiliated tissues include bone, testes and t cells.

Disease Ontology:11 An otitis interna characterized by an abnormal bone growth in the middle ear.

Related Diseases for Otosclerosis

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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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcysteinePhase 4304616-91-112035
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
2TILUDRONIC ACIDPhase 32

Interventional clinical trials:

(show all 11)
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
6Quantification of Prosthesis Penetration With Conebeam in OtosclerosisCompletedNCT02901093
7Cone Beam CT for Diagnosis of Select Otorhinolaryngology (ENT) Indications at Lower DoseCompletedNCT01855425
8Objective Measurement of Ossicular Chain Mobility Using a Palpating Instrument IntraoperativelyCompletedNCT02554422
9Clinical Assessment of the External Sound Processor Worn by Patients Implanted With CodacsCompletedNCT02156167
10Taste Disorders in Middle Ear Disease and After Middle Ear SurgeryRecruitingNCT01584011
11Comprehensive 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 Otosclerosis25 23

Anatomical Context for Otosclerosis

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MalaCards organs/tissues related to Otosclerosis:

34
Bone, Testes, T cells, Cortex, Eye

Animal Models for Otosclerosis or affiliated genes

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Publications for Otosclerosis

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Articles related to Otosclerosis:

(show top 50)    (show all 567)
idTitleAuthorsYear
1
3D-Flair sequence at 3T in cochlear otosclerosis. (26747254)
2016
2
A systematic review of the effect of different crimping techniques in stapes surgery for otosclerosis. (26333166)
2015
3
Otosclerosis and Fitness to Fly. (26630051)
2015
4
Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population. (25032118)
2014
5
The role of imaging in the diagnosis and management of otosclerosis. (23921926)
2013
6
Oval window niche height: quantitative evaluation with CT before stapes surgery for otosclerosis. (23179652)
2013
7
Perspectives of pharmacological treatment in otosclerosis. (22843095)
2013
8
The pathologic basis of facial nerve stimulation in otosclerosis and multi-channel cochlear implantation. (23928519)
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
An "Uncrimped" SMart Stapes Prosthesis: A Cause of Late Hearing Deterioration in Otosclerosis. (22431926)
2012
13
Phenotype of the first otosclerosis family linked to OTSC10. (21433022)
2011
14
New bone formation in patients with cochlear implants and otosclerosis. (21892123)
2011
15
Primary stapes surgery in patients with otosclerosis: prediction of postoperative outcome. (21768405)
2011
16
Superior canal dehiscence in a patient with three failed stapedectomy operations for otosclerosis: a case report. (21291515)
2011
17
Histopathology of cochlear otosclerosis: implications for cochlear implantation. (20962702)
2011
18
Otosclerosis: thirty-year follow-up after surgery. (22032075)
2011
19
Otosclerosis 2: the medical management of otosclerosis. (20089010)
2010
20
Speech perception after cochlear implantation in 53 patients with otosclerosis: multicentre results. (19690406)
2010
21
Restriction analysis of otosclerosis-associated CD46 splicing variants. (19597833)
2010
22
No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population. (19503013)
2009
23
Variations in the "Carhart notch" and overclosure after laser-assisted stapedotomy in otosclerosis. (18957900)
2009
24
Detection of rare nonsynonymous variants in TGFB1 in otosclerosis patients. (19207109)
2009
25
Presence of otosclerosis and paget lesions in the same temporal bone. (19779387)
2009
26
Otosclerosis and TGF-beta 1 gene in black South Africans. (19113055)
2008
27
Audiological evaluation of patients with otosclerosis. (17245032)
2007
28
Vestibular-evoked myogenic potentials in patients with otosclerosis using air- and bone-conducted tone-burst stimulation. (17106429)
2007
29
Quantification of angiogenesis in otosclerosis. (15867645)
2005
30
Fenestral and cochlear otosclerosis. (15174809)
2004
31
Association of otosclerosis with Sp1 binding site polymorphism in COL1A1 gene: evidence for a shared genetic etiology with osteoporosis. (15241219)
2004
32
Characteristics and postoperative course of tinnitus in otosclerosis. (12544028)
2003
33
Superior semicircular canal dehiscence simulating otosclerosis. (12901812)
2003
34
KTP laser fine fenestra stapedotomy with vein graft interposition in the surgical management of otosclerosis. (15570777)
2003
35
The anterior and superior malleal ligaments in otosclerosis: a histopathologic observation. (12438846)
2002
36
MRI of cochlear otosclerosis. (12124236)
2002
37
Prevalence of otosclerosis in an unselected series of temporal bones. (11568664)
2001
38
Association of COL1A1 and otosclerosis: evidence for a shared genetic etiology with mild osteogenesis imperfecta. (9752968)
1998
39
Cochlear otosclerosis: the current understanding. (9865641)
1998
40
Hearing results in otosclerosis surgery after partial stapedectomy, total stapedectomy and stapedotomy. (9039488)
1997
41
Imaging case of the month: cochlear otosclerosis. (9149840)
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
Stapedectomy. Causes of failure and revision surgery in otosclerosis. (8341574)
1993
49
Evaluation of cochlear function in a patient with "far-advanced" otosclerosis. (1415499)
1992
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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Sources for Otosclerosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet