OTSC7
MCID: OTS010
MIFTS: 15

Otosclerosis 7 (OTSC7)

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

Aliases & Classifications for Otosclerosis 7

MalaCards integrated aliases for Otosclerosis 7:

Name: Otosclerosis 7 57 13 70
Otsc7 57

Characteristics:

OMIM®:

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


HPO:

31
otosclerosis 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 611572
OMIM Phenotypic Series 57 PS166800
MedGen 41 C1969044
SNOMED-CT via HPO 68 11543004 263681008 44057004
UMLS 70 C1969044

Summaries for Otosclerosis 7

MalaCards based summary : Otosclerosis 7, also known as otsc7, is related to otosclerosis and otosclerosis 1. An important gene associated with Otosclerosis 7 is OTSC7 (Otosclerosis 7). Related phenotypes are conductive hearing impairment and otosclerosis

More information from OMIM: 611572 PS166800

Related Diseases for Otosclerosis 7

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

(showing 2, show less)
# Related Disease Score Top Affiliating Genes
1 otosclerosis 11.1
2 otosclerosis 1 9.9

Symptoms & Phenotypes for Otosclerosis 7

Human phenotypes related to Otosclerosis 7:

31 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 conductive hearing impairment 31 HP:0000405
2 otosclerosis 31 HP:0000362
3 progressive hearing impairment 31 HP:0001730
4 childhood onset sensorineural hearing impairment 31 HP:0011474
5 abnormality of the acoustic reflex 31 HP:0040121

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Ears:
otosclerosis
hearing loss, unilateral or bilateral, conductive or mixed conductive/sensorineural

Clinical features from OMIM®:

611572 (Updated 20-May-2021)

Drugs & Therapeutics for Otosclerosis 7

Search Clinical Trials , NIH Clinical Center for Otosclerosis 7

Genetic Tests for Otosclerosis 7

Anatomical Context for Otosclerosis 7

Publications for Otosclerosis 7

Articles related to Otosclerosis 7:

(showing 4, show less)
# Title Authors PMID Year
1
Phenotype description of a Dutch otosclerosis family with suggestive linkage to OTSC7. 61 57
17568406 2007
2
A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1. 61 57
17213839 2007
3
Monogenic nonsyndromic otosclerosis: audiological and linkage analysis in a large Greek pedigree. 57
16168495 2006
4
A review on the genetics of otosclerosis. 61
17651264 2007

Variations for Otosclerosis 7

Expression for Otosclerosis 7

Search GEO for disease gene expression data for Otosclerosis 7.

Pathways for Otosclerosis 7

GO Terms for Otosclerosis 7

Sources for Otosclerosis 7

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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