MCID: SMC003
MIFTS: 17

Semicircular Canal Dehiscence Syndrome

Categories: Rare diseases

Aliases & Classifications for Semicircular Canal Dehiscence Syndrome

MalaCards integrated aliases for Semicircular Canal Dehiscence Syndrome:

Name: Semicircular Canal Dehiscence Syndrome 59
Scd Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
semicircular canal dehiscence syndrome
Inheritance: Not applicable;

Classifications:



External Ids:

Orphanet 59 ORPHA420402
ICD10 via Orphanet 34 H83.8

Summaries for Semicircular Canal Dehiscence Syndrome

MalaCards based summary : Semicircular Canal Dehiscence Syndrome, also known as scd syndrome, is related to superior semicircular canal dehiscence and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Semicircular Canal Dehiscence Syndrome is NTN1 (Netrin 1). Affiliated tissues include testes, bone and eye, and related phenotype is hearing/vestibular/ear.

Related Diseases for Semicircular Canal Dehiscence Syndrome

Diseases related to Semicircular Canal Dehiscence Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 superior semicircular canal dehiscence 32.0 HMX3 NTN1
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
3 petrositis 10.1
4 otosclerosis 10.1
5 cervicitis 10.1
6 hyperacusis 10.1

Graphical network of the top 20 diseases related to Semicircular Canal Dehiscence Syndrome:



Diseases related to Semicircular Canal Dehiscence Syndrome

Symptoms & Phenotypes for Semicircular Canal Dehiscence Syndrome

MGI Mouse Phenotypes related to Semicircular Canal Dehiscence Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 HMX3 NTN1

Drugs & Therapeutics for Semicircular Canal Dehiscence Syndrome

Search Clinical Trials , NIH Clinical Center for Semicircular Canal Dehiscence Syndrome

Genetic Tests for Semicircular Canal Dehiscence Syndrome

Anatomical Context for Semicircular Canal Dehiscence Syndrome

MalaCards organs/tissues related to Semicircular Canal Dehiscence Syndrome:

41
Testes, Bone, Eye

Publications for Semicircular Canal Dehiscence Syndrome

Articles related to Semicircular Canal Dehiscence Syndrome:

(show all 28)
# Title Authors Year
1
Effectiveness of Transmastoid Plugging for Semicircular Canal Dehiscence Syndrome. ( 29313443 )
2018
2
Superior semicircular canal dehiscence syndrome. ( 28084916 )
2017
3
Superior Semicircular Canal Dehiscence Syndrome - Diagnosis and Surgical Management. ( 28382131 )
2017
4
Aggregating the symptoms of superior semicircular canal dehiscence syndrome. ( 29280497 )
2017
5
Gender and laterality in semicircular canal dehiscence syndrome. ( 27345153 )
2016
6
Outcomes of Transmastoid Surgery for Superior Semicircular Canal Dehiscence Syndrome. ( 27327868 )
2016
7
Eye movement autophony in superior semicircular canal dehiscence syndrome may be caused by trans-dural transmission of extraocular muscle contraction. ( 25328030 )
2015
8
Otic capsule dehiscence syndrome: Superior semicircular canal dehiscence syndrome with no radiographically visible dehiscence. ( 26322461 )
2015
9
Recent advances in superior semicircular canal dehiscence syndrome. ( 25655361 )
2015
10
Retrospective cohort study on hearing outcome after transmastoid plugging in superior semicircular canal dehiscence syndrome. ( 26382590 )
2015
11
Tullio phenomenon in superior semicircular canal dehiscence syndrome. ( 24638216 )
2014
12
Optimizing ocular vestibular evoked myogenic potential testing for superior semicircular canal dehiscence syndrome: electrode placement. ( 24993062 )
2014
13
Surgical treatment of hearing loss when otosclerosis coexists with superior semicircular canal dehiscence syndrome. ( 24979129 )
2014
14
Superior Semicircular Canal Dehiscence Syndrome without Vestibular Symptoms. ( 25992092 )
2014
15
Multislice computed tomography overestimates superior semicircular canal dehiscence syndrome. ( 24294685 )
2013
16
Occlusion of the round window: a novel way to treat hyperacusis symptoms in superior semicircular canal dehiscence syndrome. ( 23732001 )
2013
17
Ocular versus cervical VEMPs in the diagnosis of superior semicircular canal dehiscence syndrome. ( 23183641 )
2013
18
Tympanometric findings in superior semicircular canal dehiscence syndrome. ( 23853402 )
2013
19
Superior semicircular canal dehiscence syndrome as assessed by oVEMP and temporal bone computed tomography imaging. ( 22193872 )
2012
20
Hennebert's sign in superior semicircular canal dehiscence syndrome: a video case report. ( 22252740 )
2012
21
Mutation analysis of Netrin 1 and HMX3 genes in patients with superior semicircular canal dehiscence syndrome. ( 22779713 )
2012
22
Surgical treatment of posterior semicircular canal dehiscence syndrome caused by jugular diverticulum. ( 22892221 )
2012
23
Pre- and postoperative CT appearance of superior semicircular canal dehiscence syndrome. ( 22682783 )
2012
24
Use of the loud sound stimulation test in diagnosis of semicircular canal dehiscence syndrome. ( 21116643 )
2011
25
Electrocochleography as a diagnostic and intraoperative adjunct in superior semicircular canal dehiscence syndrome. ( 22072263 )
2011
26
Diagnosis and outcomes of middle cranial fossa repair for patients with superior semicircular canal dehiscence syndrome. ( 20074960 )
2010
27
Superior semicircular canal dehiscence syndrome by the superior petrosal sinus. ( 20176603 )
2010
28
A superior semicircular canal dehiscence syndrome multicenter study: is there an association between size and symptoms? ( 20118818 )
2010

Variations for Semicircular Canal Dehiscence Syndrome

Expression for Semicircular Canal Dehiscence Syndrome

Search GEO for disease gene expression data for Semicircular Canal Dehiscence Syndrome.

Pathways for Semicircular Canal Dehiscence Syndrome

GO Terms for Semicircular Canal Dehiscence Syndrome

Biological processes related to Semicircular Canal Dehiscence Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inner ear morphogenesis GO:0042472 8.62 HMX3 NTN1

Sources for Semicircular Canal Dehiscence Syndrome

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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