MCID: SPR126
MIFTS: 31

Superior Semicircular Canal Dehiscence

Categories: Rare diseases, Ear diseases

Aliases & Classifications for Superior Semicircular Canal Dehiscence

MalaCards integrated aliases for Superior Semicircular Canal Dehiscence:

Name: Superior Semicircular Canal Dehiscence 12
Superior Semicircular Canal Dehiscence Syndrome 12 53
Superior Canal Dehiscence Syndrome 53
Third Mobile Window Syndrome 12
Canal Dehiscence Syndrome 12
Superior Canal Dehiscence 12
Superior Canal Syndrome 12
Anemia, Sickle Cell 73
Minor’s Syndrome 12
Scds 53

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Ear diseases


External Ids:

Disease Ontology 12 DOID:0080193

Summaries for Superior Semicircular Canal Dehiscence

NIH Rare Diseases : 53 Superior semicircular canal dehiscence syndrome is a rare balance disorder characterized by auditory and/or vestibular symptoms. These might include dizziness and vertigo triggered by heavy lifting, straining, coughing or loud sounds that change the middle ear or intracranial pressure, fullness in the ear, autophony (an echo or reverberation in the ear when speaking, chewing or swallowing), hearing loss, nystagmus, or oscillopsia (the apparent motion of objects that are stationary). This condition is caused by an opening (dehiscence) in the bone that overlays the superior (uppermost) semicircular canal within the inner ear. While many patients with superior semicircular canal dehiscence syndrome are able to tolerate their symptoms and reduce or avoid triggering stimuli, others can benefit from surgical repair of the dehiscence.

MalaCards based summary : Superior Semicircular Canal Dehiscence, also known as superior semicircular canal dehiscence syndrome, is related to semicircular canal dehiscence syndrome and sickle cell disease, and has symptoms including abdominal pain, angina pectoris and chest pain. An important gene associated with Superior Semicircular Canal Dehiscence is COCH (Cochlin). Affiliated tissues include bone, eye and testes, and related phenotypes are Synthetic lethal with vaccinia virus (VACV) infection and hearing/vestibular/ear

Disease Ontology : 12 An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus.

Wikipedia : 76 Superior canal dehiscence syndrome (SCDS) is a set of hearing and balance symptoms, related to a rare... more...

Related Diseases for Superior Semicircular Canal Dehiscence

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

(show all 22)
# Related Disease Score Top Affiliating Genes
1 semicircular canal dehiscence syndrome 29.7 HMX3 NTN1
2 sickle cell disease 12.1
3 schnyder corneal dystrophy 11.5
4 cardiac conduction defect 11.3
5 sickle cell anemia 11.1
6 qt interval, variation in 11.1
7 ehlers-danlos syndrome, spondylodysplastic type, 3 11.1
8 carnitine deficiency, systemic primary 11.0
9 hemoglobinopathy 10.9
10 subacute cerebellar degeneration 10.9
11 otosclerosis 10.5
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
13 meningoencephalocele 10.3
14 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.1
15 bone fracture 10.1
16 sensorineural hearing loss 10.1
17 petrositis 10.1
18 ehlers-danlos syndrome 10.1
19 cervicitis 10.1
20 meningitis 10.1
21 encephalocele 10.1
22 hyperacusis 10.1

Comorbidity relations with Superior Semicircular Canal Dehiscence via Phenotypic Disease Network (PDN):


Acute Cystitis Deficiency Anemia
Heart Disease

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



Diseases related to Superior Semicircular Canal Dehiscence

Symptoms & Phenotypes for Superior Semicircular Canal Dehiscence

UMLS symptoms related to Superior Semicircular Canal Dehiscence:


abdominal pain, angina pectoris, chest pain, edema

GenomeRNAi Phenotypes related to Superior Semicircular Canal Dehiscence according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with vaccinia virus (VACV) infection GR00362-A 8.62 COCH NTN1

MGI Mouse Phenotypes related to Superior Semicircular Canal Dehiscence:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.8 COCH HMX3 NTN1

Drugs & Therapeutics for Superior Semicircular Canal Dehiscence

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vestibular Function Outcome After Cartilage Cap Occlusion Surgery Withdrawn NCT01727544 Early Phase 1

Search NIH Clinical Center for Superior Semicircular Canal Dehiscence

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Superior Semicircular Canal Dehiscence

Anatomical Context for Superior Semicircular Canal Dehiscence

MalaCards organs/tissues related to Superior Semicircular Canal Dehiscence:

41
Bone, Eye, Testes

Publications for Superior Semicircular Canal Dehiscence

Articles related to Superior Semicircular Canal Dehiscence:

(show top 50) (show all 60)
# Title Authors Year
1
Hearing eyeball and/or eyelid movements on the side of a unilateral superior semicircular canal dehiscence. ( 29116385 )
2018
2
Minimally invasive surgery for superior semicircular canal dehiscence: Results of a four fenestration technique in twenty-one adults. ( 29741293 )
2018
3
Bone Metabolic Markers in the Clinical Assessment of Patients with Superior Semicircular Canal Dehiscence Treated with Middle Fossa Craniotomy. ( 29452318 )
2018
4
Mechanisms of Hearing Loss in a Guinea Pig Model of Superior Semicircular Canal Dehiscence. ( 29853836 )
2018
5
Superior semicircular canal dehiscence: Diagnosis and management. ( 29224712 )
2018
6
Incidence of intraoperative hearing loss during middle cranial fossa approach for repair of superior semicircular canal dehiscence. ( 29908720 )
2018
7
Clinical Implications of the Association Between Temporal Bone Tegmen Defects and Superior Semicircular Canal Dehiscence. ( 29697584 )
2018
8
RESPONSE TO "MICHAEL YONG, ERICA ZAIA, BRIAN WESTERBERG, AND JANE LEA. DIAGNOSIS OF SUPERIOR SEMICIRCULAR CANAL DEHISCENCE IN THE PRESENCE OF CONCOMITANT OTOSCLEROSIS". OTOL NEUROTOL 2017;38: 1071-1075. ( 29494468 )
2018
9
Round window plugging in the treatment of superior semicircular canal dehiscence. ( 28990655 )
2017
10
Superior Semicircular Canal Dehiscence in a Patient with Ehlers-Danlos Syndrome: A Case Report. ( 28484680 )
2017
11
Superior semicircular canal dehiscence syndrome. ( 28084916 )
2017
12
Superior semicircular canal dehiscence: A new perspective. ( 29234688 )
2017
13
Pediatric superior semicircular canal dehiscence: illustrative case and systematic review. ( 28548616 )
2017
14
Temporal bone anatomy characteristics in superior semicircular canal dehiscence. ( 29937854 )
2017
15
Superior Semicircular Canal Dehiscence Symptoms Unmasked by Ossicular Chain Reconstruction. ( 28418791 )
2017
16
Electrocochleography summating potential seen on auditory brainstem response in a case of superior semicircular canal dehiscence. ( 28607824 )
2017
17
A Method of Locating the Dehiscence during Middle Fossa Approach for Superior Semicircular Canal Dehiscence Surgery. ( 28725523 )
2017
18
Middle cranial fossa approach for the repair of superior semicircular canal dehiscence is associated with greater symptom resolution compared to transmastoid approach. ( 29022108 )
2017
19
Minimally Invasive Middle Fossa Keyhole Craniectomy for Repair of Superior Semicircular Canal Dehiscence. ( 28521355 )
2017
20
Diagnostic performance of reformatted isotropic thin-section helical CT images in the detection of superior semicircular canal dehiscence. ( 28627985 )
2017
21
The Efficacy of Magnetic Resonance Imaging for the Diagnosis of Superior Semicircular Canal Dehiscence. ( 29283100 )
2017
22
Superior Semicircular Canal Dehiscence Syndrome - Diagnosis and Surgical Management. ( 28382131 )
2017
23
The influence of the subarcuate artery in the superior semicircular canal dehiscence and its frequency on stillbirths: illustrative cases and systematic review. ( 29272988 )
2017
24
Aggregating the symptoms of superior semicircular canal dehiscence syndrome. ( 29280497 )
2017
25
Minimally Invasive Middle Fossa Keyhole Craniectomy for Repair of Superior Semicircular Canal Dehiscence. ( 28922894 )
2017
26
Outcomes of middle fossa craniotomy for the repair of superior semicircular canal dehiscence. ( 28622893 )
2017
27
Diagnosis of Superior Semicircular Canal Dehiscence in the Presence of Concomitant Otosclerosis. ( 28657952 )
2017
28
Outcomes of Transmastoid Surgery for Superior Semicircular Canal Dehiscence Syndrome. ( 27327868 )
2016
29
Eye movement autophony in superior semicircular canal dehiscence syndrome may be caused by trans-dural transmission of extraocular muscle contraction. ( 25328030 )
2015
30
Otic capsule dehiscence syndrome: Superior semicircular canal dehiscence syndrome with no radiographically visible dehiscence. ( 26322461 )
2015
31
Dilemmas in the Treatment of Concurrent Bilateral Meningoencephalocele and Superior Semicircular Canal Dehiscence. ( 25756461 )
2015
32
Recent advances in superior semicircular canal dehiscence syndrome. ( 25655361 )
2015
33
Retrospective cohort study on hearing outcome after transmastoid plugging in superior semicircular canal dehiscence syndrome. ( 26382590 )
2015
34
Tullio phenomenon in superior semicircular canal dehiscence syndrome. ( 24638216 )
2014
35
Optimizing ocular vestibular evoked myogenic potential testing for superior semicircular canal dehiscence syndrome: electrode placement. ( 24993062 )
2014
36
Surgical treatment of hearing loss when otosclerosis coexists with superior semicircular canal dehiscence syndrome. ( 24979129 )
2014
37
Temporal bone fracture causing superior semicircular canal dehiscence. ( 25295207 )
2014
38
Superior Semicircular Canal Dehiscence Syndrome without Vestibular Symptoms. ( 25992092 )
2014
39
Multislice computed tomography overestimates superior semicircular canal dehiscence syndrome. ( 24294685 )
2013
40
Occlusion of the round window: a novel way to treat hyperacusis symptoms in superior semicircular canal dehiscence syndrome. ( 23732001 )
2013
41
Ocular versus cervical VEMPs in the diagnosis of superior semicircular canal dehiscence syndrome. ( 23183641 )
2013
42
Tympanometric findings in superior semicircular canal dehiscence syndrome. ( 23853402 )
2013
43
Superior semicircular canal dehiscence syndrome as assessed by oVEMP and temporal bone computed tomography imaging. ( 22193872 )
2012
44
Otitic meningitis, superior semicircular canal dehiscence, and encephalocele: a case series. ( 22525216 )
2012
45
Hennebert's sign in superior semicircular canal dehiscence syndrome: a video case report. ( 22252740 )
2012
46
Mutation analysis of Netrin 1 and HMX3 genes in patients with superior semicircular canal dehiscence syndrome. ( 22779713 )
2012
47
Absence of COCH gene mutations in patients with superior semicircular canal dehiscence. ( 22139968 )
2012
48
Pre- and postoperative CT appearance of superior semicircular canal dehiscence syndrome. ( 22682783 )
2012
49
Bilateral superior semicircular canal dehiscence in a child with sensorineural hearing loss and without vestibular symptoms. ( 21524803 )
2011
50
Superior semicircular canal dehiscence and enlarged vestibular aqueduct. ( 21458865 )
2011

Variations for Superior Semicircular Canal Dehiscence

Expression for Superior Semicircular Canal Dehiscence

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

Pathways for Superior Semicircular Canal Dehiscence

GO Terms for Superior Semicircular Canal Dehiscence

Biological processes related to Superior Semicircular Canal Dehiscence 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 Superior Semicircular Canal Dehiscence

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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