OTSC4
MCID: OTS008
MIFTS: 14

Otosclerosis 4 (OTSC4)

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

Aliases & Classifications for Otosclerosis 4

MalaCards integrated aliases for Otosclerosis 4:

Name: Otosclerosis 4 57 13 72
Otsc4 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
2:1 female preponderance


HPO:

32
otosclerosis 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MedGen 42 C1969046
UMLS 72 C1969046

Summaries for Otosclerosis 4

MalaCards based summary : Otosclerosis 4, also known as otsc4, is related to otosclerosis. An important gene associated with Otosclerosis 4 is OTSC4 (Otosclerosis 4). Related phenotypes are otosclerosis and mixed hearing impairment

More information from OMIM: 611571 PS166800

Related Diseases for Otosclerosis 4

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

# Related Disease Score Top Affiliating Genes
1 otosclerosis 11.8

Symptoms & Phenotypes for Otosclerosis 4

Human phenotypes related to Otosclerosis 4:

32
# Description HPO Frequency HPO Source Accession
1 otosclerosis 32 HP:0000362
2 mixed hearing impairment 32 HP:0000410

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
otosclerosis
hearing loss, unilateral or bilateral, conductive or mixed conductive/sensorineural

Clinical features from OMIM:

611571

Drugs & Therapeutics for Otosclerosis 4

Search Clinical Trials , NIH Clinical Center for Otosclerosis 4

Genetic Tests for Otosclerosis 4

Anatomical Context for Otosclerosis 4

Publications for Otosclerosis 4

Articles related to Otosclerosis 4:

# Title Authors PMID Year
1
Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus. 38 8
16618911 2006
2
Third-generation bisphosphonates for cochlear otosclerosis stabilizes sensorineural hearing loss in long-term follow-up. 38
29094069 2017
3
Primary stapedotomy in children with otosclerosis: A prospective study of 41 consecutive cases. 38
26016603 2016
4
A review on the genetics of otosclerosis. 38
17651264 2007
5
[Identification of human papilloma viruses (HPV) in inflammatory states and ear neoplasms]. 38
17668798 2007

Variations for Otosclerosis 4

Expression for Otosclerosis 4

Search GEO for disease gene expression data for Otosclerosis 4.

Pathways for Otosclerosis 4

GO Terms for Otosclerosis 4

Sources for Otosclerosis 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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