OTSC1
MCID: OTS005
MIFTS: 25

Otosclerosis 1 (OTSC1)

Categories: Bone diseases, Ear diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Otosclerosis 1

MalaCards integrated aliases for Otosclerosis 1:

Name: Otosclerosis 1 57 29 13
Otosclerosis 70
Otsc1 57
Ots 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant with reduced penetrance


HPO:

31
otosclerosis 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 166800
OMIM Phenotypic Series 57 PS166800
MedGen 41 C4551901
SNOMED-CT via HPO 68 11543004 263681008 44057004
UMLS 70 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) (Updated 05-Apr-2021)

MalaCards based summary : Otosclerosis 1, also known as otosclerosis, is related to otosclerosis and branchiootic syndrome 1, and has symptoms including earache An important gene associated with Otosclerosis 1 is OTSC1 (Otosclerosis 1). The drugs Acetylcysteine and Respiratory System Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, 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:

# Related Disease Score Top Affiliating Genes
1 otosclerosis 10.1
2 branchiootic syndrome 1 10.0
3 intestinal perforation 10.0
4 otosclerosis 2 9.9
5 bone resorption disease 9.9

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



Diseases related to Otosclerosis 1

Symptoms & Phenotypes for Otosclerosis 1

Human phenotypes related to Otosclerosis 1:

31
# Description HPO Frequency HPO Source Accession
1 conductive hearing impairment 31 HP:0000405
2 otosclerosis 31 HP:0000362

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Ears:
otosclerosis
conductive hearing loss

Clinical features from OMIM®:

166800 (Updated 05-Apr-2021)

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 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
2 Respiratory System Agents Phase 4
3 Protective Agents Phase 4
4 Expectorants Phase 4
5 Antidotes Phase 4
6 Antiviral Agents Phase 4
7 Antioxidants Phase 4
8 Anti-Infective Agents Phase 4
9 N-monoacetylcystine Phase 4
10
tiludronate Approved, Investigational, Vet_approved Phase 3 89987-06-4 60937
11
Epinephrine Approved, Vet_approved 51-43-4 5816
12
Racepinephrine Approved 329-65-7 838
13
Lidocaine Approved, Vet_approved 137-58-6 3676
14 Narcotics
15 Epinephryl borate
16 Anesthetics, General
17 Anesthetics, Local
18 Anesthetics

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Acetylcystein Vid Stapedotomi 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 Study of Binaural Squelch Effect Among Patients Undergoing Unilateral Otosclerosis Surgery: Comparison of Understanding in Noise Before-after Surgery Completed NCT03587792
5 Early Postoperative Imaging of the Labyrinth by Cone Beam CT After Stapes Surgery for Otosclerosis With Correlation to Audiovestibular Outcome Completed NCT02901093
6 Hearing Aid Versus Surgical Rehabilitation as Treatment of Otosclerosis: Pilot Study Completed NCT02456272
7 Cone Beam CT (CS 9300) for Diagnosis of Select Otorhinolaryngology (ENT) Indications at Lower Dose Completed NCT01855425
8 Messung Der Beweglichkeit Der Gehörknöchelchenkette während Einer Ohroperation. ("Objective Measurements of Ossicular Chain Mobility Using a Palpating Instrument Intraoperatively") Completed NCT02554422
9 Comprehensive Wide Bandwidth Test Battery of Auditory Function in Veterans Completed NCT02019888
10 Patient Satisfaction After Surgery for Otosclerosis Under Local ou General Anesthesia Recruiting NCT03888079 Local anesthetic;general anesthetic
11 Comparison of Cone Beam With CT Scan for the Diagnosis of Otosclerosis Terminated NCT02435446

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:

40
Bone

Publications for Otosclerosis 1

Articles related to Otosclerosis 1:

(show all 29)
# Title Authors PMID Year
1
A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis. 57
19230858 2009
2
Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis. 57
17489845 2007
3
Localization of a gene for otosclerosis to chromosome 15q25-q26. 57
9425236 1998
4
A genetic study of otosclerosis in a population living in the north of Tunisia. 57
8215216 1993
5
[Studies on the genetics of otosclerosis (author's transl)]. 57
640874 1978
6
The genetics of Otosclerosis. I. Distorted sex ratio. 57
623103 1978
7
Genetic factors in otosclerosis. 57
5298472 1967
8
Congenital total colour blindness associated with otosclerosis. 57
24539138 1950
9
Heredity and environment in otosclerosis. 57
18884667 1948
10
Bone-conducted Vestibular-evoked Myogenic Potentials Before and After Stapes Surgery. 61
29227983 2018
11
Diagnostic efficacy and therapeutic impact of computed tomography in the evaluation of clinically suspected otosclerosis. 61
27364152 2017
12
An introduction of genetics in otosclerosis: a systematic review. 61
24170657 2014
13
Otosclerosis 1: the aetiopathogenesis of otosclerosis. 61
19769709 2009
14
Eustachian tube function and habitual sniffing in middle ear cholesteatoma. 61
18957901 2009
15
A review on the genetics of otosclerosis. 61
17651264 2007
16
A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1. 61
17213839 2007
17
Evidence of increased average age of patients with otosclerosis. 61
17245018 2007
18
The genetics of otosclerosis: pedigree studies and linkage analysis. 61
17245027 2007
19
Monogenic nonsyndromic otosclerosis: audiological and linkage analysis in a large Greek pedigree. 61
16168495 2006
20
Etiologic diagnosis of sensorineural hearing loss in adults. 61
15944560 2005
21
Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families. 61
14658855 2003
22
[Epidemiological aspects of otosclerosis (1). Its frequency in comparison with other ear pathologies, incidence and prevalence]. 61
12680295 2003
23
Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3. 61
12114476 2002
24
Otosclerosis: a genetically heterogeneous disease involving at least three different genes. 61
11934656 2002
25
Etiopathogenesis of otosclerosis. 61
12021502 2002
26
A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36. 61
11170898 2001
27
[Secondary Menière's disease]. 61
1896669 1991
28
Paradoxical compliances in otosclerosis. 61
1131117 1975
29
[On the biochemistry of the perilymph of surgically treated otosclerosis. 1. Preliminary report]. 61
13786907 1960

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....