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OTSC4
MCID: OTS008
MIFTS: 14

Otosclerosis 4 (OTSC4)

Categories: Bone diseases, Ear diseases, Genetic diseases, Rare diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Otosclerosis 4

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MalaCards integrated aliases for Otosclerosis 4:

Name: Otosclerosis 4 58 13 74
Otsc4 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
2:1 female preponderance


HPO:

33
otosclerosis 4:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Ear diseases Bone diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 58 611571
MedGen 43 C1969046
SNOMED-CT via HPO 70 11543004 263681008 77507001
UMLS 74 C1969046
Sources

Summaries for Otosclerosis 4

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MalaCards based summary : Otosclerosis 4, also known as otsc4, is related to otosclerosis and cone-rod dystrophy and hearing loss 2. 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
Sources

Related Diseases for Otosclerosis 4

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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 11.7
2 cone-rod dystrophy and hearing loss 2 11.1

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Symptoms & Phenotypes for Otosclerosis 4

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Human phenotypes related to Otosclerosis 4:

33
# Description HPO Frequency HPO Source Accession
1 otosclerosis 33 HP:0000362
2 mixed hearing impairment 33 HP:0000410

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

611571
Sources

Drugs & Therapeutics for Otosclerosis 4

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Search Clinical Trials , NIH Clinical Center for Otosclerosis 4

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Genetic Tests for Otosclerosis 4

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Anatomical Context for Otosclerosis 4

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MalaCards organs/tissues related to Otosclerosis 4:

42
Bone
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Publications for Otosclerosis 4

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Articles related to Otosclerosis 4:

# Title Authors Year
1
Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus. ( 16618911 )
2006
Sources

Variations for Otosclerosis 4

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Expression for Otosclerosis 4

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Search GEO for disease gene expression data for Otosclerosis 4.
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Pathways for Otosclerosis 4

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GO Terms for Otosclerosis 4

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Sources for Otosclerosis 4

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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