OTSC2
MCID: OTS006
MIFTS: 16

Otosclerosis 2 (OTSC2)

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

Aliases & Classifications for Otosclerosis 2

MalaCards integrated aliases for Otosclerosis 2:

Name: Otosclerosis 2 57 13 70
Otsc2 57

Classifications:



External Ids:

OMIM® 57 605727
OMIM Phenotypic Series 57 PS166800
MedGen 41 C1854022
UMLS 70 C1854022

Summaries for Otosclerosis 2

MalaCards based summary : Otosclerosis 2, also known as otsc2, is related to otosclerosis 1 and branchiootic syndrome 1. An important gene associated with Otosclerosis 2 is OTSC2 (Otosclerosis 2). Affiliated tissues include bone.

More information from OMIM: 605727 PS166800

Related Diseases for Otosclerosis 2

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

# Related Disease Score Top Affiliating Genes
1 otosclerosis 1 10.1
2 branchiootic syndrome 1 9.9
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
4 sensorineural hearing loss 9.9
5 bone resorption disease 9.9
6 otosclerosis 9.9

Graphical network of the top 20 diseases related to Otosclerosis 2:



Diseases related to Otosclerosis 2

Symptoms & Phenotypes for Otosclerosis 2

Clinical features from OMIM®:

605727 (Updated 20-May-2021)

Drugs & Therapeutics for Otosclerosis 2

Search Clinical Trials , NIH Clinical Center for Otosclerosis 2

Genetic Tests for Otosclerosis 2

Anatomical Context for Otosclerosis 2

MalaCards organs/tissues related to Otosclerosis 2:

40
Bone

Publications for Otosclerosis 2

Articles related to Otosclerosis 2:

(show all 15)
# Title Authors PMID Year
1
A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36. 61 57
11170898 2001
2
Cochlear Implantation in Otosclerosis: Surgical and Auditory Outcomes With a Brief on Facial Nerve Stimulation. 61
28902803 2017
3
Surgical and clinical confirmation of temporal bone CT findings in patients with otosclerosis with failed stapes surgery. 61
24481328 2014
4
An introduction of genetics in otosclerosis: a systematic review. 61
24170657 2014
5
Involvement of T-cell receptor-beta alterations in the development of otosclerosis linked to OTSC2. 61
20182450 2010
6
Otosclerosis 2: the medical management of otosclerosis. 61
20089010 2010
7
No evidence of linkage between 7q33-36 locus (OTSC2) and otosclerosis in seven British Caucasian pedigrees. 61
17908356 2007
8
A review on the genetics of otosclerosis. 61
17651264 2007
9
The genetics of otosclerosis: pedigree studies and linkage analysis. 61
17245027 2007
10
Phenotype-genotype correlations in otosclerosis: clinical features of OTSC2. 61
17245031 2007
11
Monogenic nonsyndromic otosclerosis: audiological and linkage analysis in a large Greek pedigree. 61
16168495 2006
12
Cochlear implantation of patients with far-advanced otosclerosis. 61
16436983 2006
13
Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families. 61
14658855 2003
14
Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3. 61
12114476 2002
15
Otosclerosis: a genetically heterogeneous disease involving at least three different genes. 61
11934656 2002

Variations for Otosclerosis 2

Expression for Otosclerosis 2

Search GEO for disease gene expression data for Otosclerosis 2.

Pathways for Otosclerosis 2

GO Terms for Otosclerosis 2

Sources for Otosclerosis 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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