OTSC8
MCID: OTS011
MIFTS: 14

Otosclerosis 8 (OTSC8)

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

Aliases & Classifications for Otosclerosis 8

MalaCards integrated aliases for Otosclerosis 8:

Name: Otosclerosis 8 57 13 70
Otsc8 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
otosclerosis 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 612096
OMIM Phenotypic Series 57 PS166800
MedGen 41 C2677515
UMLS 70 C2677515

Summaries for Otosclerosis 8

MalaCards based summary : Otosclerosis 8, also known as otsc8, is related to otosclerosis. An important gene associated with Otosclerosis 8 is OTSC8 (Otosclerosis 8). Related phenotypes are hearing impairment and otosclerosis

More information from OMIM: 612096 PS166800

Related Diseases for Otosclerosis 8

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

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 otosclerosis 11.1

Symptoms & Phenotypes for Otosclerosis 8

Human phenotypes related to Otosclerosis 8:

31 (showing 2, show less)
# 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 20-May-2021)
Head And Neck Ears:
otosclerosis
hearing loss, unilateral or bilateral, conductive, sensorineural, or mixed

Clinical features from OMIM®:

612096 (Updated 20-May-2021)

Drugs & Therapeutics for Otosclerosis 8

Search Clinical Trials , NIH Clinical Center for Otosclerosis 8

Genetic Tests for Otosclerosis 8

Anatomical Context for Otosclerosis 8

Publications for Otosclerosis 8

Articles related to Otosclerosis 8:

(showing 4, show less)
# Title Authors PMID Year
1
A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9. 57 61
18224337 2008
2
How Often Does Stapedectomy for Otosclerosis Result in Endolymphatic Hydrops? 61
27380537 2016
3
An introduction of genetics in otosclerosis: a systematic review. 61
24170657 2014
4
Pure-tone audiometry in otosclerosis: insufficient evidence for the diagnostic value of the Carhart notch. 61
24042555 2013

Variations for Otosclerosis 8

Expression for Otosclerosis 8

Search GEO for disease gene expression data for Otosclerosis 8.

Pathways for Otosclerosis 8

GO Terms for Otosclerosis 8

Sources for Otosclerosis 8

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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