OTSC1
MCID: OTS005
MIFTS: 22

Otosclerosis 1 (OTSC1)

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

Aliases & Classifications for Otosclerosis 1

MalaCards integrated aliases for Otosclerosis 1:

Name: Otosclerosis 1 58 30 13
Otosclerosis 74
Otsc1 58
Ots 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant with reduced penetrance


HPO:

33
otosclerosis 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 166800
SNOMED-CT via HPO 70 11543004 263681008 44057004
UMLS 74 C0029899

Summaries for Otosclerosis 1

OMIM : 58 Clinical otosclerosis, the single most common cause of hearing impairment, is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule. Otosclerotic foci invade the stapediovestibular joint (oval window) and interfere with free motion of the stapes. Mean age of onset is in the third decade and 90% of affected persons are under 50 years of age at the time of diagnosis. Approximately 10% of affected persons develop profound sensorineural hearing loss across all frequencies (summary by Tomek et al., 1998). (166800)

MalaCards based summary : Otosclerosis 1, also known as otosclerosis, is related to primary orthostatic tremor and cone-rod dystrophy and hearing loss 2, and has symptoms including earache An important gene associated with Otosclerosis 1 is OTSC1 (Otosclerosis 1). Affiliated tissues include bone, t cells and b cells, and related phenotypes are conductive hearing impairment and otosclerosis

Related Diseases for Otosclerosis 1

Graphical network of the top 20 diseases related to Otosclerosis 1:



Diseases related to Otosclerosis 1

Symptoms & Phenotypes for Otosclerosis 1

Human phenotypes related to Otosclerosis 1:

33
# Description HPO Frequency HPO Source Accession
1 conductive hearing impairment 33 HP:0000405
2 otosclerosis 33 HP:0000362

Symptoms via clinical synopsis from OMIM:

58
Ears:
otosclerosis
conductive hearing loss

Clinical features from OMIM:

166800

UMLS symptoms related to Otosclerosis 1:


earache

Drugs & Therapeutics for Otosclerosis 1

Search Clinical Trials , NIH Clinical Center for Otosclerosis 1

Genetic Tests for Otosclerosis 1

Genetic tests related to Otosclerosis 1:

# Genetic test Affiliating Genes
1 Otosclerosis 1 30

Anatomical Context for Otosclerosis 1

MalaCards organs/tissues related to Otosclerosis 1:

42
Bone, T Cells, B Cells

Publications for Otosclerosis 1

Articles related to Otosclerosis 1:

# Title Authors Year
1
Otosclerosis 1: the aetiopathogenesis of otosclerosis. ( 19769709 )
2009
2
Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families. ( 14658855 )
2003

Variations for Otosclerosis 1

Expression for Otosclerosis 1

Search GEO for disease gene expression data for Otosclerosis 1.

Pathways for Otosclerosis 1

GO Terms for Otosclerosis 1

Sources for Otosclerosis 1

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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