MCID: ENL001
MIFTS: 55

Enlarged Vestibular Aqueduct malady

Summaries for Enlarged Vestibular Aqueduct

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Large vestibular aqueduct, also known as enlarged vestibular aqueduct syndrome, is a syndromic form of... more...

MalaCards: Enlarged Vestibular Aqueduct, also known as enlarged vestibular aqueduct syndrome, is related to pendred syndrome and sensorineural hearing loss. An important gene associated with Enlarged Vestibular Aqueduct is FOXI1 (forkhead box I1), and among its related pathways are Calcium Regulation in the Cardiac Cell and Signaling in Gap Junctions. The compounds perchlorate and sodium iodide have been mentioned in the context of this disorder. Affiliated tissues include thyroid, bone and testes, and related mouse phenotypes are renal/urinary system and skeleton.

Description from OMIM:46 600791

Aliases & Classifications for Enlarged Vestibular Aqueduct

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8Disease Ontology, 42NIH Rare Diseases, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 60UMLS
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Aliases & Descriptions:

enlarged vestibular aqueduct 8 46 10
enlarged vestibular aqueduct syndrome 42 22 44 60
large vestibular aqueduct syndrome 42


External Ids:

Disease Ontology8 DOID:0050332
OMIM46 600791

Related Diseases for Enlarged Vestibular Aqueduct

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Enlarged Vestibular Aqueduct:



Diseases related to enlarged vestibular aqueduct

Clinical Features for Enlarged Vestibular Aqueduct

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46OMIM
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Clinical features from OMIM:

600791

Drugs & Therapeutics for Enlarged Vestibular Aqueduct

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Enlarged Vestibular Aqueduct

Search CenterWatch for Enlarged Vestibular Aqueduct

Genetic Tests for Enlarged Vestibular Aqueduct

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22GTR
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Genetic tests related to Enlarged Vestibular Aqueduct:

id Genetic test Affiliating Genes
1 Enlarged Vestibular Aqueduct Syndrome22

Anatomical Context for Enlarged Vestibular Aqueduct

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32MalaCards
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MalaCards organs/tissues related to Enlarged Vestibular Aqueduct:

32
Thyroid, Bone, Testes

Animal Models for Enlarged Vestibular Aqueduct or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Enlarged Vestibular Aqueduct:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.0SLC26A4, SIX1, ATP6V0A4, FOXI1, EYA1
2MP:00053908.6EYA1, FOXI1, ATP6V0A4, GJB2, SIX1, SLC26A4
3MP:00053828.5EYA1, FOXI1, GJB2, SIX1, SLC6A4
4MP:00053767.1ATP6V0A4, FOXI1, EYA1, KCNJ10, GJB6, GJB3
5MP:00053866.9KCNJ10, EYA1, FOXI1, ATP6V0A4, MYO15A, GJB6
6MP:00053776.8TMC1, KCNJ10, EYA1, FOXI1, ATP6V0A4, MYO15A
7MP:00036316.1GJB6, MYO15A, FOXI1, EYA1, KCNJ10, GJB2

Publications for Enlarged Vestibular Aqueduct

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50PubMed
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Articles related to Enlarged Vestibular Aqueduct:

(show top 50)    (show all 84)
idTitleAuthorsYear
1
Analysis of the Thyroid Phenotype in 42 Patients with Pendred Syndrome and Nonsyndromic Enlargement of the Vestibular Aqueduct. (24224479)
2014
2
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. (23965030)
2013
3
Enlarged vestibular aqueduct syndrome mimicking otosclerosis in adults. (24028978)
2013
4
Acoustically evoked short latency negative responses in hearing loss patients with enlarged vestibular aqueduct. (23055113)
2013
5
Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss. (24105851)
2013
6
Correlation analysis of genotypes, auditory function, and vestibular size in Chinese children with enlarged vestibular aqueduct syndrome. (24245694)
2013
7
Bilateral enlarged vestibular aqueduct with associated bilateral Mondini's dysplasia. (22537762)
2012
8
Coronal CT scan measurements and hearing evolution in enlarged vestibular aqueduct syndrome. (22281371)
2012
9
Clinical, audiometric, radiologic, and genetic profiles of Southeast Asian children with hearing loss due to enlarged vestibular aqueduct. (21986928)
2011
10
Identification of SLC26A4 mutations in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis. (21366435)
2011
11
Hemorrhage in the endolymphatic sac: a cause of hearing fluctuation in enlarged vestibular aqueduct. (21963424)
2011
12
Superior semicircular canal dehiscence and enlarged vestibular aqueduct. (21458865)
2011
13
Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. (21961810)
2011
14
Characteristics of vestibular evoked myogenic potentials in children with enlarged vestibular aqueduct. (21132770)
2011
15
Enlarged vestibular aqueduct: review of controversial aspects. (22024854)
2011
16
Identification of two novel mutations, c.232T>C and c.2006A>T, in SLC26A4 in a Chinese family associated with enlarged vestibular aqueduct. (20483489)
2010
17
SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct. (19998422)
2010
18
Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. (19578036)
2009
19
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? (19204907)
2009
20
Cochlear abnormalities associated with enlarged vestibular aqueduct anomaly. (19775757)
2009
21
Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. (19426954)
2009
22
Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians. (19645628)
2009
23
A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome. (19565036)
2009
24
Enlarged vestibular aqueduct in pediatric sensorineural hearing loss. (19328346)
2009
25
Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct. (18283249)
2008
26
Enlarged vestibular aqueduct (EVA) related with recurrent benign paroxysmal positional vertigo (BPPV). (17590526)
2008
27
Natural history of hearing loss in children with enlarged vestibular aqueduct syndrome. (18479637)
2008
28
Can magnetic resonance imaging provide clues to the inner ear functional status of enlarged vestibular aqueduct subjects with PDS mutation? (18665027)
2008
29
Delineating the hearing loss in children with enlarged vestibular aqueduct. (18665003)
2008
30
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). (17503324)
2007
31
Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum. (17443271)
2007
32
Patients suffered from enlarged vestibular aqueduct syndrome in Chifeng deaf and dumb school detected by Pendred's syndrome gene hot spot mutation screening]. (17007371)
2006
33
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. (16570074)
2006
34
Association of SLC26A4 mutations with clinical features and thyroid function in deaf infants with enlarged vestibular aqueduct. (16924389)
2006
35
SIX1 mutation associated with enlargement of the vestibular aqueduct in a patient with branchio-oto syndrome. (16652090)
2006
36
Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene. (15574297)
2005
37
Hearing loss in patients with enlarged vestibular aqueduct: air-bone gap and audiological Bing test. (16149241)
2005
38
Common clinical features of children with enlarged vestibular aqueduct and Mondini dysplasia. (15630381)
2005
39
Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or Mondini dysplasia: a unique spectrum of mutations in Taiwan, including a frequent founder mutation. (15933521)
2005
40
Relation between CSF gusher and large endolymphatic sac in the enlarged vestibular aqueduct syndrome during cochlear implantation. (18792246)
2004
41
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. (14508505)
2003
42
Familial enlarged vestibular aqueduct syndrome. (11464327)
2001
43
Hearing preservation mastoidectomy in otogenic meningitis secondary to an enlarged vestibular aqueduct. Case report. (12489589)
2000
44
Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene. (10700480)
2000
45
Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene. (10051166)
1999
46
Sensorineural hearing loss after occlusion of the enlarged vestibular aqueduct. (10337975)
1999
47
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. (10190331)
1999
48
Enlarged vestibular aqueduct as a marker for hearing loss in children. (9825214)
1998
49
Enlarged vestibular aqueduct and sensorineural hearing loss in childhood. (7803018)
1995
50
The enlarged vestibular aqueduct syndrome (EVA syndrome). (8261931)
1993

Genetic Variations for Enlarged Vestibular Aqueduct

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Enlarged Vestibular Aqueduct:

62 (show all 32)
id Symbol AA change Variation ID SNP ID
1SLC26A4p.Gly209ValVAR_007440
2SLC26A4p.Leu236ProVAR_007441
3SLC26A4p.Lys369GluVAR_007442
4SLC26A4p.Ala372ValVAR_007443
5SLC26A4p.Thr416ProVAR_007445rs28939086
6SLC26A4p.Gly497SerVAR_007446
7SLC26A4p.Thr721MetVAR_007448
8SLC26A4p.His723ArgVAR_007449rs121908362
9SLC26A4p.Leu445TrpVAR_011624
10SLC26A4p.Ser28ArgVAR_021639
11SLC26A4p.Ser90LeuVAR_021642
12SLC26A4p.Leu117PheVAR_021647rs145254330
13SLC26A4p.Thr132IleVAR_021648
14SLC26A4p.Val239AspVAR_021653
15SLC26A4p.Ser252ProVAR_021654
16SLC26A4p.Phe335LeuVAR_021656rs111033212
17SLC26A4p.Asn392TyrVAR_021658rs201562855
18SLC26A4p.Arg409ProVAR_021660
19SLC26A4p.Thr410MetVAR_021661
20SLC26A4p.Gln446ArgVAR_021665
21SLC26A4p.Ile455PheVAR_021666
22SLC26A4p.Asn457LysVAR_021667
23SLC26A4p.Ile490LeuVAR_021669
24SLC26A4p.Leu676GlnVAR_021678
25SLC26A4p.Pro123SerVAR_027238
26SLC26A4p.Met147ValVAR_027239
27SLC26A4p.Tyr530SerVAR_027242
28SLC26A4p.Ser666PheVAR_027244
29SLC26A4p.Val402MetVAR_058580
30SLC26A4p.Met775ThrVAR_058581
31SLC26A4p.Val281IleVAR_064992
32SLC26A4p.Asn558LysVAR_064993

Expression for genes affiliated with Enlarged Vestibular Aqueduct

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Enlarged Vestibular Aqueduct

Search GEO for disease gene expression data for Enlarged Vestibular Aqueduct.

Pathways for genes affiliated with Enlarged Vestibular Aqueduct

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37NCBI BioSystems Database, 51QIAGEN, 53Reactome
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Pathways related to Enlarged Vestibular Aqueduct according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6GJB2, GJB3, GJB6
29.6GJB2, GJB3, GJB6
3
Hide members
9.6GJB2, GJB3, GJB6
49.6GJB6, GJB3, GJB2

Compounds for genes affiliated with Enlarged Vestibular Aqueduct

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44Novoseek, 59Tocris Bioscience, 24HMDB, 28IUPHAR, 11DrugBank, 2BitterDB, 49PharmGKB
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Compounds related to Enlarged Vestibular Aqueduct according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1perchlorate4410.0SLC26A4, TG
2sodium iodide449.9TG, SLC26A4
310panx599.9GJB2, GJB6, GJB3
4gap 27599.9GJB6, GJB3, GJB2
5iodine44 2410.9TG, SLC26A4
6carbenoxolone disodium599.9GJB6, GJB3, GJB2
7scrambled 10panx599.9GJB6, GJB3, GJB2
8octanol28 2410.9GJB6, GJB3, GJB2
9carbenoxolone28 44 1111.8GJB2, GJB3, GJB6
10ca2+289.8GJB6, GJB3, GJB2
11flufenamic acid44 28 2 1112.8GJB2, GJB3, GJB6
12nortriptyline44 49 28 1112.8KCNJ10, SLC6A4
13iodide44 2410.7TG, SLC26A4
14125i449.5TG, SLC6A4
15spec-t449.5TG, SLC6A4
16ketamine44 28 1111.2TG, SLC6A4

GO Terms for genes affiliated with Enlarged Vestibular Aqueduct

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16Gene Ontology
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Cellular components related to Enlarged Vestibular Aqueduct according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1brush border membraneGO:0315269.8SLC26A4, ATP6V0A4
2connexon complexGO:0059229.6GJB2, GJB3, GJB6
3apical plasma membraneGO:0163249.3SLC26A4, ATP6V0A4, KCNJ10
4plasma membraneGO:0058867.0KCNJ10, MPZL2, ATP6V0A4, GJB6, GJB2, SLC6A4

Biological processes related to Enlarged Vestibular Aqueduct according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of secondary heart field cardioblast proliferationGO:07251310.1EYA1, SIX1
2aorta morphogenesisGO:03590910.1EYA1, SIX1
3neuron fate specificationGO:04866510.1SIX1, EYA1
4pharyngeal system developmentGO:06003710.0EYA1, SIX1
5regulation of neuron differentiationGO:04566410.0EYA1, SIX1
6regulation of pHGO:00688510.0SLC26A4, ATP6V0A4
7cochlea morphogenesisGO:0901039.9EYA1, SIX1
8thyroid gland developmentGO:0308789.9TG, SIX1
9middle ear morphogenesisGO:0424749.8EYA1, SIX1
10embryonic skeletal system morphogenesisGO:0487049.8SIX1, EYA1
11inner ear morphogenesisGO:0424729.8SIX1, MYO15A, FOXI1
12outflow tract morphogenesisGO:0031519.7SIX1, EYA1
13regulation of protein localizationGO:0328809.7SLC26A4, SIX1
14sensory perception of soundGO:0076058.2SLC26A4, SIX1, GJB2, GJB3, GJB6, MYO15A

Molecular functions related to Enlarged Vestibular Aqueduct according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:0052439.9GJB2, GJB3

Products for genes affiliated with Enlarged Vestibular Aqueduct

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Sources for Enlarged Vestibular Aqueduct

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet