MCID: SMC003
MIFTS: 19

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 58
Scd Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
semicircular canal dehiscence syndrome
Inheritance: Not applicable;

Classifications:



External Ids:

ICD10 via Orphanet 33 H83.8
Orphanet 58 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 HMX3 (H6 Family Homeobox 3). 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:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 superior semicircular canal dehiscence 32.9 NTN1 HMX3
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.7
3 pathologic nystagmus 10.6
4 otitis media 10.4
5 otosclerosis 10.4
6 hyperacusis 10.4
7 sensorineural hearing loss 10.3
8 perilymphatic fistula 10.3
9 meniere disease 10.2
10 patulous eustachian tube 10.2
11 48,xyyy 10.2

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:

45
# 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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Determinants of Sudden Cardiac Death Completed NCT00064558
2 Test-Retest Reliability of oVEMP's Across Different Electrode Montages Withdrawn NCT03251586

Search 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:

40
Testes, Bone, Eye

Publications for Semicircular Canal Dehiscence Syndrome

Articles related to Semicircular Canal Dehiscence Syndrome:

(show top 50) (show all 130)
# Title Authors PMID Year
1
A Case Series of Patients With Concurrent Otosclerosis and Superior Semicircular Canal Dehiscence. 61
31688614 2020
2
Superior Semicircular Canal Dehiscence Syndrome. 61
31986544 2020
3
Gauging the effectiveness of canal occlusion surgery: how I do it. 61
31668162 2019
4
Surgical treatments for a case of superior canal dehiscence syndrome associated with patulous Eustachian tube. 61
30287116 2019
5
Posterior semicircular canal dehiscence: a diagnostic and surgical conundrum. 61
31270089 2019
6
The variation of superior semicircular canal bone thickness in relation to age and gender. 61
31035843 2019
7
A Comparison of Two Recording Montages for Ocular Vestibular Evoked Myogenic Potentials in Patients with Superior Canal Dehiscence Syndrome. 61
30461389 2019
8
Superior Canal Dehiscence Surgery Outcomes Following Failed Round Window Surgery. 61
30870372 2019
9
Clinical and Physiologic Predictors and Postoperative Outcomes of Near Dehiscence Syndrome. 61
30570606 2019
10
Flat Panel Computed Tomography in the Diagnosis of Superior Semicircular Canal Dehiscence Syndrome. 61
30570605 2019
11
Functional and Objective Audiovestibular Evaluation of Children With Apparent Semicircular Canal Dehiscence-A Case Series in a Pediatric Vestibular Center. 61
31001191 2019
12
Utility of Postoperative Magnetic Resonance Imaging in Patients Who Fail Superior Canal Dehiscence Surgery. 61
30461526 2019
13
A Cohort Study of Hearing Outcomes Between Middle Fossa Craniotomy and Transmastoid Approach for Surgical Repair of Superior Semicircular Canal Dehiscence Syndrome. 61
30444849 2018
14
Postoperative MR imaging features after superior semicircular canal plugging in Minor syndrome. 61
30220585 2018
15
Semicircular Canal Dehiscence Syndrome and Vestibular Dysfunction Disqualify a Military Student Pilot. 61
30219121 2018
16
Audiometric and cVEMP Thresholds Show Little Correlation With Symptoms in Superior Semicircular Canal Dehiscence Syndrome. 61
30124614 2018
17
Aggregating the symptoms of superior semicircular canal dehiscence syndrome. 61
29280497 2018
18
Round window plugging in the treatment of superior semicircular canal dehiscence. 61
28990655 2018
19
Effectiveness of Transmastoid Plugging for Semicircular Canal Dehiscence Syndrome. 61
29313443 2018
20
Diagnostic criteria for Patulous Eustachian Tube: A proposal by the Japan Otological Society. 61
29153260 2018
21
Toward Optimizing Cervical Vestibular Evoked Myogenic Potentials (cVEMP): Combining Air-Bone Gap and cVEMP Thresholds to Improve Diagnosis of Superior Canal Dehiscence. 61
29210947 2018
22
Toward Optimizing cVEMP: 2,000-Hz Tone Bursts Improve the Detection of Superior Canal Dehiscence. 61
30677753 2018
23
Superior semicircular canal dehiscence syndrome. 61
28084916 2017
24
Diagnosis of Superior Semicircular Canal Dehiscence in the Presence of Concomitant Otosclerosis. 61
28657952 2017
25
Superior Semicircular Canal Dehiscence Syndrome - Diagnosis and Surgical Management. 61
28382131 2017
26
Relationship between Surgically Treated Superior Canal Dehiscence Syndrome and Body Mass Index. 61
28116976 2017
27
Superior Canal Dehiscence Syndrome: Lessons from the First 20 Years. 61
28503164 2017
28
Audiologic, cVEMP, and Radiologic Progression in Superior Canal Dehiscence Syndrome. 61
27525706 2016
29
Retrospective cohort study on hearing outcome after transmastoid plugging in superior semicircular canal dehiscence syndrome: Our Experience. 61
26382590 2016
30
Transmastoid resurfacing versus middle fossa plugging for repair of superior canal dehiscence: Comparison of techniques from a retrospective cohort. 61
29204562 2016
31
Benign paroxysmal positional vertigo commonly occurs following repair of superior canal dehiscence. 61
26666775 2016
32
Gender and laterality in semicircular canal dehiscence syndrome. 61
27345153 2016
33
Outcomes of Transmastoid Surgery for Superior Semicircular Canal Dehiscence Syndrome. 61
27327868 2016
34
Long-term results of middle fossa plugging of superior semicircular canal dehiscences: clinically and instrumentally demonstrated efficiency in a retrospective series of 16 ears. 61
26205152 2016
35
Endolymphatic hydrops in superior canal dehiscence and large vestibular aqueduct syndromes. 61
26525170 2016
36
Ocular vestibular evoked myogenic potentials to vertex low frequency vibration as a diagnostic test for superior canal dehiscence. 61
26818880 2016
37
[Clinical manifestations of 20 cases of the superior semicircular canal dehiscence syndrome and the intervention strategies]. 61
26898860 2016
38
Longitudinal Cognitive and Neurobehavioral Functional Outcomes Before and After Repairing Otic Capsule Dehiscence. 61
26649608 2016
39
Enhanced Auditory Sensitivity to Body Vibrations in Superior Canal Dehiscence Syndrome. 61
28081534 2016
40
Obesity related complications in surgery. 61
26339964 2015
41
Superior canal dehiscence syndrome in children--a case report. 61
26187547 2015
42
Otic capsule dehiscence syndrome: Superior semicircular canal dehiscence syndrome with no radiographically visible dehiscence. 61
26322461 2015
43
Cochlear implant outcomes in patients with superior canal dehiscence. 61
24074366 2015
44
Development of conductive hearing loss due to posterior semicircular canal dehiscence. 61
25466358 2015
45
Electrocochleographic findings in superior canal dehiscence syndrome. 61
25683209 2015
46
Recent advances in superior semicircular canal dehiscence syndrome. 61
25655361 2015
47
Intraoperative neuromonitoring for superior semicircular canal dehiscence and hearing outcomes. 61
25333320 2015
48
Eye movement autophony in superior semicircular canal dehiscence syndrome may be caused by trans-dural transmission of extraocular muscle contraction. 61
25328030 2015
49
Pressure assessment of superior semicircular canal dehiscence repair techniques--a temporal bone study. 61
25275864 2014
50
Outcomes following Semicircular Canal Plugging. 61
24962178 2014

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 NTN1 HMX3

Sources for Semicircular Canal Dehiscence Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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