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 73
Otsc4 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
2:1 female preponderance


HPO:

32
otosclerosis 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 611571
MedGen 42 C1969046
SNOMED-CT via HPO 69 263681008 11543004 77507001
UMLS 73 C1969046

Summaries for Otosclerosis 4

MalaCards based summary : Otosclerosis 4, also known as otsc4, is related to otosclerosis and perrault syndrome 1. An important gene associated with Otosclerosis 4 is OTSC4 (Otosclerosis 4). Affiliated tissues include bone, and related phenotypes are otosclerosis and mixed hearing impairment

Description from OMIM: 611571

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 11.6
2 perrault syndrome 1 11.1

Symptoms & Phenotypes for Otosclerosis 4

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

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

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:

41
Bone

Publications for Otosclerosis 4

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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