MCID: OTS005
MIFTS: 26

Otosclerosis 1

Categories: Ear diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Otosclerosis 1

MalaCards integrated aliases for Otosclerosis 1:

Name: Otosclerosis 1 57 29 13
Otosclerosis 73
Otsc1 57
Ots 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant with reduced penetrance


HPO:

32
otosclerosis 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 166800
MedGen 42 C0029899
SNOMED-CT via HPO 69 263681008 11543004 44057004
UMLS 73 C0029899

Summaries for Otosclerosis 1

OMIM : 57 Clinical otosclerosis, the single most common cause of hearing impairment, is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule. Otosclerotic foci invade the stapediovestibular joint (oval window) and interfere with free motion of the stapes. Mean age of onset is in the third decade and 90% of affected persons are under 50 years of age at the time of diagnosis. Approximately 10% of affected persons develop profound sensorineural hearing loss across all frequencies (summary by Tomek et al., 1998). (166800)

MalaCards based summary : Otosclerosis 1, also known as otosclerosis, is related to primary orthostatic tremor and breast cancer, and has symptoms including earache An important gene associated with Otosclerosis 1 is OTSC1 (Otosclerosis 1). The drugs Acetylcysteine and Antidotes have been mentioned in the context of this disorder. Affiliated tissues include bone and testes, and related phenotypes are conductive hearing impairment and otosclerosis

Related Diseases for Otosclerosis 1

Diseases in the Otosclerosis family:

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

Diseases related to Otosclerosis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 primary orthostatic tremor 10.9
2 breast cancer 9.8
3 myelofibrosis 9.8
4 graft-versus-host disease 9.8
5 dilated cardiomyopathy 9.8
6 lymphoma 9.8
7 dermatitis 9.8
8 peritonitis 9.8
9 acute graft versus host disease 9.8
10 exfoliative dermatitis 9.8
11 otosclerosis 9.8

Graphical network of the top 20 diseases related to Otosclerosis 1:



Diseases related to Otosclerosis 1

Symptoms & Phenotypes for Otosclerosis 1

Symptoms via clinical synopsis from OMIM:

57
Ears:
otosclerosis
conductive hearing loss


Clinical features from OMIM:

166800

Human phenotypes related to Otosclerosis 1:

32
# Description HPO Frequency HPO Source Accession
1 conductive hearing impairment 32 HP:0000405
2 otosclerosis 32 HP:0000362

UMLS symptoms related to Otosclerosis 1:


earache

Drugs & Therapeutics for Otosclerosis 1

Drugs for Otosclerosis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
2 Antidotes Phase 4
3 Anti-Infective Agents Phase 4
4 Antioxidants Phase 4
5 Antiviral Agents Phase 4
6 Expectorants Phase 4
7 N-monoacetylcystine Phase 4
8 Protective Agents Phase 4
9 Respiratory System Agents Phase 4
10
tiludronate Approved, Investigational, Vet_approved Phase 3 89987-06-4 60937
11 Bone Density Conservation Agents Phase 3
12 Diphosphonates Phase 3

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Efficacy of Acetylcysteine in Patients Undergoing Surgery for Otosclerosis Completed NCT00525551 Phase 4 Acetylcysteine;Placebo (NaCl)
2 Therapeutic Efficacy of Tiludronic Acid on Inner Ear Involvement in Advanced Otosclerosis Terminated NCT01617057 Phase 3 tiludronic acid;Placebo
3 Audiometric Parameters in Conductive Hearing Loss and Middle Ear Disease Unknown status NCT00222417
4 Taste Disorders in Middle Ear Disease and After Middle Ear Surgery Unknown status NCT01584011
5 Hearing Aid Versus Surgical Rehabilitation as Treatment of Otosclerosis: Pilot Study Completed NCT02456272 Not Applicable
6 Quantification of Prosthesis Penetration With Conebeam in Otosclerosis Completed NCT02901093
7 Objective Measurement of Ossicular Chain Mobility Using a Palpating Instrument Intraoperatively Completed NCT02554422 Not Applicable
8 Clinical Assessment of the External Sound Processor Worn by Patients Implanted With Codacs Completed NCT02156167 Not Applicable
9 Cone Beam CT for Diagnosis of Select Otorhinolaryngology (ENT) Indications at Lower Dose Completed NCT01855425
10 Healthful Diets and Risk of Hearing Loss Completed NCT03351023
11 Cone Beam and CT Scan for the Diagnosis of Otosclerosis (TACOS) Recruiting NCT02435446 Not Applicable
12 Wide Frequency Band Test of Hearing in Veterans Enrolling by invitation NCT02019888
13 Robot Based Tympanic Tube Placement Not yet recruiting NCT03569943 Not Applicable

Search NIH Clinical Center for Otosclerosis 1

Genetic Tests for Otosclerosis 1

Genetic tests related to Otosclerosis 1:

# Genetic test Affiliating Genes
1 Otosclerosis 1 29

Anatomical Context for Otosclerosis 1

MalaCards organs/tissues related to Otosclerosis 1:

41
Bone, Testes

Publications for Otosclerosis 1

Articles related to Otosclerosis 1:

# Title Authors Year
1
Otosclerosis 1: the aetiopathogenesis of otosclerosis. ( 19769709 )
2009

Variations for Otosclerosis 1

Expression for Otosclerosis 1

Search GEO for disease gene expression data for Otosclerosis 1.

Pathways for Otosclerosis 1

GO Terms for Otosclerosis 1

Sources for Otosclerosis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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