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 60
Scd Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
semicircular canal dehiscence syndrome
Inheritance: Not applicable;

Classifications:



External Ids:

ICD10 via Orphanet 35 H83.8
Orphanet 60 ORPHA420402

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 12.5
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
3 otosclerosis 10.2
4 hyperacusis 10.2

Symptoms & Phenotypes for Semicircular Canal Dehiscence Syndrome

MGI Mouse Phenotypes related to Semicircular Canal Dehiscence Syndrome:

47
# 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:

42
Testes, Bone, Eye

Publications for Semicircular Canal Dehiscence Syndrome

Articles related to Semicircular Canal Dehiscence Syndrome:

(show all 40)
# Title Authors Year
1
Effectiveness of Transmastoid Plugging for Semicircular Canal Dehiscence Syndrome. ( 29313443 )
2018
2
Audiometric and cVEMP Thresholds Show Little Correlation With Symptoms in Superior Semicircular Canal Dehiscence Syndrome. ( 30124614 )
2018
3
Semicircular Canal Dehiscence Syndrome and Vestibular Dysfunction Disqualify a Military Student Pilot. ( 30219121 )
2018
4
A Cohort Study of Hearing Outcomes Between Middle Fossa Craniotomy and Transmastoid Approach for Surgical Repair of Superior Semicircular Canal Dehiscence Syndrome. ( 30444849 )
2018
5
Flat Panel Computed Tomography in the Diagnosis of Superior Semicircular Canal Dehiscence Syndrome. ( 30570605 )
2018
6
Superior semicircular canal dehiscence syndrome. ( 28084916 )
2017
7
Superior Semicircular Canal Dehiscence Syndrome - Diagnosis and Surgical Management. ( 28382131 )
2017
8
Aggregating the symptoms of superior semicircular canal dehiscence syndrome. ( 29280497 )
2017
9
Gender and laterality in semicircular canal dehiscence syndrome. ( 27345153 )
2016
10
Outcomes of Transmastoid Surgery for Superior Semicircular Canal Dehiscence Syndrome. ( 27327868 )
2016
11
Eye movement autophony in superior semicircular canal dehiscence syndrome may be caused by trans-dural transmission of extraocular muscle contraction. ( 25328030 )
2015
12
Otic capsule dehiscence syndrome: Superior semicircular canal dehiscence syndrome with no radiographically visible dehiscence. ( 26322461 )
2015
13
Recent advances in superior semicircular canal dehiscence syndrome. ( 25655361 )
2015
14
Retrospective cohort study on hearing outcome after transmastoid plugging in superior semicircular canal dehiscence syndrome. ( 26382590 )
2015
15
Tullio phenomenon in superior semicircular canal dehiscence syndrome. ( 24638216 )
2014
16
Optimizing ocular vestibular evoked myogenic potential testing for superior semicircular canal dehiscence syndrome: electrode placement. ( 24993062 )
2014
17
Surgical treatment of hearing loss when otosclerosis coexists with superior semicircular canal dehiscence syndrome. ( 24979129 )
2014
18
Superior Semicircular Canal Dehiscence Syndrome without Vestibular Symptoms. ( 25992092 )
2014
19
Multislice computed tomography overestimates superior semicircular canal dehiscence syndrome. ( 24294685 )
2013
20
Occlusion of the round window: a novel way to treat hyperacusis symptoms in superior semicircular canal dehiscence syndrome. ( 23732001 )
2013
21
Ocular versus cervical VEMPs in the diagnosis of superior semicircular canal dehiscence syndrome. ( 23183641 )
2013
22
Tympanometric findings in superior semicircular canal dehiscence syndrome. ( 23853402 )
2013
23
Superior semicircular canal dehiscence syndrome as assessed by oVEMP and temporal bone computed tomography imaging. ( 22193872 )
2012
24
Hennebert's sign in superior semicircular canal dehiscence syndrome: a video case report. ( 22252740 )
2012
25
Mutation analysis of Netrin 1 and HMX3 genes in patients with superior semicircular canal dehiscence syndrome. ( 22779713 )
2012
26
Surgical treatment of posterior semicircular canal dehiscence syndrome caused by jugular diverticulum. ( 22892221 )
2012
27
Pre- and postoperative CT appearance of superior semicircular canal dehiscence syndrome. ( 22682783 )
2012
28
Use of the loud sound stimulation test in diagnosis of semicircular canal dehiscence syndrome. ( 21116643 )
2011
29
Electrocochleography as a diagnostic and intraoperative adjunct in superior semicircular canal dehiscence syndrome. ( 22072263 )
2011
30
Diagnosis and outcomes of middle cranial fossa repair for patients with superior semicircular canal dehiscence syndrome. ( 20074960 )
2010
31
Superior semicircular canal dehiscence syndrome by the superior petrosal sinus. ( 20176603 )
2010
32
A superior semicircular canal dehiscence syndrome multicenter study: is there an association between size and symptoms? ( 20118818 )
2010
33
Postpartum vertigo and superior semicircular canal dehiscence syndrome. ( 19622951 )
2009
34
Complete round window niche occlusion for superior semicircular canal dehiscence syndrome: a minimally invasive approach. ( 19688714 )
2009
35
Superior semicircular canal dehiscence syndrome: a new aetiology. ( 18331661 )
2008
36
More on office procedure for diagnosis of superior semicircular canal dehiscence syndrome. ( 18349727 )
2008
37
Superior semicircular canal dehiscence syndrome: Successful treatment with repair of the middle fossa floor: technical case report. ( 19057287 )
2008
38
Superior semicircular canal dehiscence syndrome. Case report. ( 14743923 )
2004
39
Superior semicircular canal dehiscence syndrome: Leaks and squeaks can make you dizzy. ( 15007114 )
2004
40
Superior semicircular canal dehiscence syndrome and multi-detector row CT. ( 12563121 )
2003

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 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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