OTSC4
MCID: OTS008
MIFTS: 15

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 56 13 71
Otsc4 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
2:1 female preponderance


HPO:

31
otosclerosis 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 611571
OMIM Phenotypic Series 56 PS166800
MedGen 41 C1969046
SNOMED-CT via HPO 68 11543004 263681008 77507001
UMLS 71 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). Affiliated tissues include bone, and 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:

31
# Description HPO Frequency HPO Source Accession
1 otosclerosis 31 HP:0000362
2 mixed hearing impairment 31 HP:0000410

Symptoms via clinical synopsis from OMIM:

56
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

MalaCards organs/tissues related to Otosclerosis 4:

40
Bone

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. 61 56
16618911 2006
2
Third-generation bisphosphonates for cochlear otosclerosis stabilizes sensorineural hearing loss in long-term follow-up. 61
29094069 2017
3
Primary stapedotomy in children with otosclerosis: A prospective study of 41 consecutive cases. 61
26016603 2016
4
A review on the genetics of otosclerosis. 61
17651264 2007
5
[Identification of human papilloma viruses (HPV) in inflammatory states and ear neoplasms]. 61
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....