OTSC3
MCID: OTS007
MIFTS: 16

Otosclerosis 3 (OTSC3)

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

Aliases & Classifications for Otosclerosis 3

MalaCards integrated aliases for Otosclerosis 3:

Name: Otosclerosis 3 58 13 74
Otsc3 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
reduced penetrance


HPO:

33
otosclerosis 3:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 608244
MedGen 43 C1842353
UMLS 74 C1842353

Summaries for Otosclerosis 3

MalaCards based summary : Otosclerosis 3, also known as otsc3, is related to perrault syndrome 1 and otosclerosis. An important gene associated with Otosclerosis 3 is OTSC3 (Otosclerosis 3). Related phenotypes are hearing impairment and otosclerosis

Description from OMIM: 608244

Related Diseases for Otosclerosis 3

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

# Related Disease Score Top Affiliating Genes
1 perrault syndrome 1 11.1
2 otosclerosis 10.2

Symptoms & Phenotypes for Otosclerosis 3

Human phenotypes related to Otosclerosis 3:

33
# Description HPO Frequency HPO Source Accession
1 hearing impairment 33 HP:0000365
2 otosclerosis 33 HP:0000362

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
otosclerosis
hearing loss, unilateral or bilateral, conductive , sensorineural, or mixed

Clinical features from OMIM:

608244

Drugs & Therapeutics for Otosclerosis 3

Search Clinical Trials , NIH Clinical Center for Otosclerosis 3

Genetic Tests for Otosclerosis 3

Anatomical Context for Otosclerosis 3

Publications for Otosclerosis 3

Articles related to Otosclerosis 3:

# Title Authors Year
1
Otosclerosis 3: the surgical management of otosclerosis. ( 20456195 )
2010
2
[Cochlear otosclerosis: 3 cases report and literature review]. ( 19441245 )
2009
3
Biochemical studies of otosclerosis. 3. Lactic dehydrogenase in vein tissue. ( 5844989 )
1965

Variations for Otosclerosis 3

Expression for Otosclerosis 3

Search GEO for disease gene expression data for Otosclerosis 3.

Pathways for Otosclerosis 3

GO Terms for Otosclerosis 3

Sources for Otosclerosis 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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