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
Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome. (23705809)
2013
3
Significance of unilateral enlarged vestibular aqueduct. (23401162)
2013
4
Compound heterozygous mutations of SLC26A4 in 4 Chinese families with enlarged vestibular aqueduct. (23385134)
2013
5
Acoustically evoked short latency negative responses in hearing loss patients with enlarged vestibular aqueduct. (23055113)
2013
6
Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China. (23185506)
2012
7
SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct. (22551242)
2012
8
Genetic diagnosis and cochlear implantation for patients with nonsyndromic hearing loss and enlarged vestibular aqueduct. (22289209)
2012
9
Misdiagnosis of otosclerosis in a patient with enlarged vestibular aqueduct syndrome: a case report. (22747696)
2012
10
Enlarged vestibular aqueduct may precipitate benign paroxysmal positional vertigo in children. (22582772)
2012
11
Clinical, audiometric, radiologic, and genetic profiles of Southeast Asian children with hearing loss due to enlarged vestibular aqueduct. (21986928)
2011
12
Endolymphatic sac abscess in the setting of enlarged vestibular aqueduct syndrome. (21765379)
2011
13
Hemorrhage in the endolymphatic sac: a cause of hearing fluctuation in enlarged vestibular aqueduct. (21963424)
2011
14
Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. (21961810)
2011
15
Characteristics of vestibular evoked myogenic potentials in children with enlarged vestibular aqueduct. (21132770)
2011
16
Enlarged vestibular aqueduct: review of controversial aspects. (22024854)
2011
17
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
18
Cochlear implantation in children with enlarged vestibular aqueduct. (20641086)
2010
19
Diagnostic function of SLC26A4 hot spot mutations screening to enlarged vestibular aqueduct syndrome]. (21174747)
2010
20
Preimplantation genetic diagnosis (embryo screening) for enlarged vestibular aqueduct due to SLC26A4 mutation. (20160438)
2010
21
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct. (20621367)
2010
22
Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without enlarged vestibular aqueduct (EVA). (20597900)
2010
23
Cochlear abnormalities associated with enlarged vestibular aqueduct anomaly. (19775757)
2009
24
Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. (19426954)
2009
25
Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct. (19786220)
2009
26
Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts. (19620588)
2009
27
A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome. (19565036)
2009
28
Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct. (18283249)
2008
29
Steroid treatment of hearing loss in enlarged vestibular aqueduct anomaly. (18817986)
2008
30
Vestibular symptoms in children with enlarged vestibular aqueduct anomaly. (17113162)
2007
31
A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. (17718863)
2007
32
The influence of mutations in the SLC26A4 gene on the temporal bone in a population with enlarged vestibular aqueduct. (17309986)
2007
33
Long-term follow-up of hearing loss in children and young adults with enlarged vestibular aqueducts: relationship to radiologic findings and Pendred syndrome diagnosis. (17075407)
2006
34
Enlarged vestibular aqueduct: Looking for genotypic-phenotypic correlations. (16830115)
2006
35
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
36
Association of SLC26A4 mutations with clinical features and thyroid function in deaf infants with enlarged vestibular aqueduct. (16924389)
2006
37
SIX1 mutation associated with enlargement of the vestibular aqueduct in a patient with branchio-oto syndrome. (16652090)
2006
38
Investigation of the role of congenital cytomegalovirus infection in the etiology of enlarged vestibular aqueducts. (15897416)
2005
39
Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. (15679828)
2005
40
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. (15689455)
2005
41
Relation between CSF gusher and large endolymphatic sac in the enlarged vestibular aqueduct syndrome during cochlear implantation. (18792246)
2004
42
Enlarged vestibular aqueduct syndrome in the pediatric population. (12851556)
2003
43
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
44
A case of enlarged vestibular aqueduct syndrome with PDS gene mutations]. (11905055)
2002
45
Enlarged vestibular aqueduct in two male siblings. (12418797)
2002
46
Familial enlarged vestibular aqueduct syndrome. (11464327)
2001
47
Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome. (11568672)
2001
48
Vertigo and the enlarged vestibular aqueduct syndrome. (11757961)
2001
49
Sensorineural hearing loss after occlusion of the enlarged vestibular aqueduct. (10337975)
1999
50
Enlarged vestibular aqueduct as a marker for hearing loss in children. (9825214)
1998

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