OTSC3
MCID: OTS007
MIFTS: 18

Otosclerosis 3 (OTSC3)

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

Aliases & Classifications for Otosclerosis 3

MalaCards integrated aliases for Otosclerosis 3:

Name: Otosclerosis 3 57 13 70
Otsc3 57

Characteristics:

OMIM®:

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

Miscellaneous:
reduced penetrance


HPO:

31
otosclerosis 3:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM® 57 608244
OMIM Phenotypic Series 57 PS166800
MedGen 41 C1842353
UMLS 70 C1842353

Summaries for Otosclerosis 3

MalaCards based summary : Otosclerosis 3, also known as otsc3, is related to otosclerosis and otosclerosis 1. An important gene associated with Otosclerosis 3 is OTSC3 (Otosclerosis 3). Related phenotypes are hearing impairment and otosclerosis

More information from OMIM: 608244 PS166800

Related Diseases for Otosclerosis 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 otosclerosis 10.1
2 otosclerosis 1 9.9
3 otosclerosis 2 9.9
4 branchiootic syndrome 1 9.9
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9

Graphical network of the top 20 diseases related to Otosclerosis 3:



Diseases related to Otosclerosis 3

Symptoms & Phenotypes for Otosclerosis 3

Human phenotypes related to Otosclerosis 3:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 otosclerosis 31 HP:0000362

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
otosclerosis
hearing loss, unilateral or bilateral, conductive , sensorineural, or mixed

Clinical features from OMIM®:

608244 (Updated 05-Apr-2021)

Drugs & Therapeutics for Otosclerosis 3

Search Clinical Trials , NIH Clinical Center for Otosclerosis 3

Genetic Tests for Otosclerosis 3

Anatomical Context for Otosclerosis 3

Publications for Otosclerosis 3

Articles related to Otosclerosis 3:

(show all 16)
# Title Authors PMID Year
1
Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3. 57 61
12114476 2002
2
Additive value of "otosclerosis-weighted" images for the CT diagnosis of fenestral otosclerosis. 61
28090791 2017
3
How Often Does Stapedectomy for Otosclerosis Result in Endolymphatic Hydrops? 61
27380537 2016
4
Analysis of hearing improvement in the patients operated on due to otosclerosis in the Otolaryngology Department of Jagiellonian University of Cracow, Poland. 61
27386930 2016
5
Analysis of hearing improvement in the patients operated on due to otosclerosis in the Otolaryngology Department of Jagiellonian University of Cracow, Poland. 61
27383734 2016
6
Detection of small fenestral otosclerotic lesions by high-resolution computed tomography using multiplanar reconstruction. 61
22607998 2013
7
Otosclerosis 3: the surgical management of otosclerosis. 61
20456195 2010
8
European results with totally implantable carina placed on the round window: 2-year follow-up. 61
19890224 2009
9
[Cochlear otosclerosis: 3 cases report and literature review]. 61
19441245 2009
10
Immunohistochemical evidence of BMP-2, -4 and -7 activity in otospongiosis. 61
17851943 2008
11
A review on the genetics of otosclerosis. 61
17651264 2007
12
Clinical and genetic analysis of two Tunisian otosclerosis families. 61
17568407 2007
13
Monogenic nonsyndromic otosclerosis: audiological and linkage analysis in a large Greek pedigree. 61
16168495 2006
14
Ultrastructural analysis of the chorda tympani nerve in facial paralysis from different etiologies. 61
8059097 1993
15
Paradoxical compliances in otosclerosis. 61
1131117 1975
16
Biochemical studies of otosclerosis. 3. Lactic dehydrogenase in vein tissue. 61
5844989 1965

Variations for Otosclerosis 3

Expression for Otosclerosis 3

Search GEO for disease gene expression data for Otosclerosis 3.

Pathways for Otosclerosis 3

GO Terms for Otosclerosis 3

Sources for Otosclerosis 3

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....