MCID: ENL001
MIFTS: 53

Enlarged Vestibular Aqueduct malady

Genetic diseases, Rare diseases, Ear diseases categories

Summaries for Enlarged Vestibular Aqueduct

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 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 Cell adhesion Gap junctions and Insulin secretion. The compounds perchlorate and sodium iodide have been mentioned in the context of this disorder. Affiliated tissues include bone, thyroid and testes, and related mouse phenotypes are behavior/neurological and hearing/vestibular/ear.

Description from OMIM:48 600791

Aliases & Classifications for Enlarged Vestibular Aqueduct

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9Disease Ontology, 44NIH Rare Diseases, 23GTR, 48OMIM, 11DISEASES, 46Novoseek, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Ear diseases


Aliases & Descriptions:

enlarged vestibular aqueduct 9 48 11
enlarged vestibular aqueduct syndrome 44 23 46 63
large vestibular aqueduct syndrome 44


External Ids:

Disease Ontology9 DOID:0050332
OMIM48 600791

Related Diseases for Enlarged Vestibular Aqueduct

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18GeneCards, 19GeneDecks
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Diseases related to Enlarged Vestibular Aqueduct via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 35)
idRelated DiseaseScoreTop Affiliating Genes
1pendred syndrome31.0TG, SLC26A4, GJB2
2sensorineural hearing loss31.0GJB2, GJB3
3enlarged vestibular aqueduct, digenic10.6
4mondini dysplasia10.5
5otosclerosis10.4
6thyroiditis10.4
7deafness, autosomal recessive 4, with enlarged vestibular aqueduct10.4
8endolymphatic hydrops10.3
9meningitis10.3
10congenital cytomegalovirus10.3
11cytomegalovirus infection10.3
12pendred syndrome/dfnb410.1SLC26A4
13ectodermal dysplasia10.1GJB2
14renal tubular acidosis10.1FOXI1, SLC26A4
15erythrokeratodermia variabilis10.0GJB3, GJB2
16palmoplantar keratosis10.0GJB3, GJB2
17dfnb110.0GJB6, GJB2
18nonepidermolytic palmoplantar keratoderma10.0GJB3, GJB2
19bart-pumphrey syndrome10.0GJB6, GJB2
20dfnb 1 nonsyndromic hearing loss and deafness10.0GJB2, GJB6
21dfna 3 nonsyndromic hearing loss and deafness10.0GJB6, GJB2
22hidrotic ectodermal dysplasia 210.0GJB6, GJB2
23multinodular goiter10.0TG, SLC26A4
24goiter10.0SLC26A4, TG
25thyroid cancer, anaplastic10.0TG, SLC26A4
26follicular adenoma10.0TG, SLC26A4
27autoimmune thyroiditis10.0SLC26A4, TG
28papillary carcinoma10.0TG, SLC26A4
29hodgkin's lymphoma, nodular sclerosis10.0GJB6, GJB3, SLC26A4
30graves' disease10.0SLC26A4, TG
31clouston syndrome10.0GJB6, GJB2, GJB3
32hypothyroidism10.0TG, SLC26A4
33skin disease10.0GJB6, GJB3, GJB2
34thyroid cancer10.0TG, SLC26A4
35nonsyndromic deafness9.9TECTB, SLC26A4, GJB3, FOXI1, GJB6, GJB2

Graphical network of the top 20 diseases related to Enlarged Vestibular Aqueduct:



Diseases related to enlarged vestibular aqueduct

Symptoms for Enlarged Vestibular Aqueduct

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48OMIM
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Clinical features from OMIM:

600791

Drugs & Therapeutics for Enlarged Vestibular Aqueduct

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Enlarged Vestibular Aqueduct

Drug clinical trials:

Search ClinicalTrials for Enlarged Vestibular Aqueduct

Search NIH Clinical Center for Enlarged Vestibular Aqueduct

Search CenterWatch for Enlarged Vestibular Aqueduct

Genetic Tests for Enlarged Vestibular Aqueduct

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23GTR
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Genetic tests related to Enlarged Vestibular Aqueduct:

id Genetic test Affiliating Genes
1 Enlarged Vestibular Aqueduct Syndrome23

Anatomical Context for Enlarged Vestibular Aqueduct

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34MalaCards
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MalaCards organs/tissues related to Enlarged Vestibular Aqueduct:

34
Bone, Thyroid, Testes

Animal Models for Enlarged Vestibular Aqueduct or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Enlarged Vestibular Aqueduct:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.1SLC26A4, SLC6A4, GJB6, FOXI1, KCNJ10
2MP:00053778.0SLC26A4, TECTB, KCNJ10, FOXI1, GJB6, GJB2
3MP:00036316.4TECTB, KCNJ10, TG, FOXI1, GJB6, GJB2
4MP:00053766.3KCNJ10, TG, FOXI1, GJB6, GJB2, GJB3

Publications for Enlarged Vestibular Aqueduct

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53PubMed
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Articles related to Enlarged Vestibular Aqueduct:

(show top 50)    (show all 78)
idTitleAuthorsYear
1
Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome. (23705809)
2013
2
Significance of unilateral enlarged vestibular aqueduct. (23401162)
2013
3
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. (23965030)
2013
4
Enlarged vestibular aqueduct syndrome mimicking otosclerosis in adults. (24028978)
2013
5
Compound heterozygous mutations of SLC26A4 in 4 Chinese families with enlarged vestibular aqueduct. (23385134)
2013
6
Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China. (23918157)
2013
7
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
8
SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct. (22551242)
2012
9
Genetic diagnosis and cochlear implantation for patients with nonsyndromic hearing loss and enlarged vestibular aqueduct. (22289209)
2012
10
Clinical, audiometric, radiologic, and genetic profiles of Southeast Asian children with hearing loss due to enlarged vestibular aqueduct. (21986928)
2011
11
Identification of SLC26A4 mutations in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis. (21366435)
2011
12
Endolymphatic sac abscess in the setting of enlarged vestibular aqueduct syndrome. (21765379)
2011
13
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
14
Cochlear implantation in children with enlarged vestibular aqueduct. (20641086)
2010
15
Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome. (19648736)
2010
16
Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. (19578036)
2009
17
Cochlear abnormalities associated with enlarged vestibular aqueduct anomaly. (19775757)
2009
18
Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. (19426954)
2009
19
Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians. (19645628)
2009
20
Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct. (19786220)
2009
21
Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts. (19620588)
2009
22
A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome. (19565036)
2009
23
Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct. (18283249)
2008
24
Enlarged vestibular aqueduct (EVA) related with recurrent benign paroxysmal positional vertigo (BPPV). (17590526)
2008
25
Natural history of hearing loss in children with enlarged vestibular aqueduct syndrome. (18479637)
2008
26
Can magnetic resonance imaging provide clues to the inner ear functional status of enlarged vestibular aqueduct subjects with PDS mutation? (18665027)
2008
27
Vestibular symptoms in children with enlarged vestibular aqueduct anomaly. (17113162)
2007
28
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
29
Enlarged vestibular aqueduct: Looking for genotypic-phenotypic correlations. (16830115)
2006
30
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
31
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. (16570074)
2006
32
Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene. (15574297)
2005
33
Hearing loss in patients with enlarged vestibular aqueduct: air-bone gap and audiological Bing test. (16149241)
2005
34
Investigation of the role of congenital cytomegalovirus infection in the etiology of enlarged vestibular aqueducts. (15897416)
2005
35
Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. (15679828)
2005
36
Common clinical features of children with enlarged vestibular aqueduct and Mondini dysplasia. (15630381)
2005
37
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
38
Relation between CSF gusher and large endolymphatic sac in the enlarged vestibular aqueduct syndrome during cochlear implantation. (18792246)
2004
39
Enlarged vestibular aqueduct syndrome in the pediatric population. (12851556)
2003
40
A case of enlarged vestibular aqueduct syndrome with PDS gene mutations]. (11905055)
2002
41
Enlarged vestibular aqueduct in two male siblings. (12418797)
2002
42
Familial enlarged vestibular aqueduct syndrome. (11464327)
2001
43
Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome. (11568672)
2001
44
Hearing preservation mastoidectomy in otogenic meningitis secondary to an enlarged vestibular aqueduct. Case report. (12489589)
2000
45
Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene. (10700480)
2000
46
Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene. (10051166)
1999
47
Sensorineural hearing loss after occlusion of the enlarged vestibular aqueduct. (10337975)
1999
48
Endolymphatic sac occlusion for the enlarged vestibular aqueduct syndrome. (9520049)
1998
49
Enlarged vestibular aqueduct as a marker for hearing loss in children. (9825214)
1998
50
The enlarged vestibular aqueduct syndrome (EVA syndrome). (8261931)
1993

Variations for Enlarged Vestibular Aqueduct

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Enlarged Vestibular Aqueduct:

65 (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

Clinvar genetic disease variations for Enlarged Vestibular Aqueduct:

1 (show all 19)
id Gene Name Type Significance SNP ID Assembly Location
1SLC26A4NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser)single nucleotide variantPathogenicrs111033308GRCh37Chr 7, 107336429: 107336429
2SLC26A4SLC26A4, 1-BP DEL, 917TdeletionPathogenic
3SLC26A4NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser)single nucleotide variantPathogenicrs111033308GRCh37Chr 7, 107336429: 107336429
4SLC26A4NM_000441.1(SLC26A4): c.626G> T (p.Gly209Val)single nucleotide variantPathogenicrs111033303GRCh37Chr 7, 107315415: 107315415
5SLC26A4NM_000441.1(SLC26A4): c.1105A> G (p.Lys369Glu)single nucleotide variantPathogenicrs121908361GRCh37Chr 7, 107329601: 107329601
6SLC26A4NM_000441.1(SLC26A4): c.1115C> T (p.Ala372Val)single nucleotide variantPathogenicrs121908364GRCh37Chr 7, 107329611: 107329611
7SLC26A4SLC26A4, 5-BP INS, NT2111insertionPathogenic
8SLC26A4NM_000441.1(SLC26A4): c.2168A> G (p.His723Arg)single nucleotide variantPathogenicrs121908362GRCh37Chr 7, 107350577: 107350577
9SLC26A4NM_000441.1(SLC26A4): c.2162C> T (p.Thr721Met)single nucleotide variantPathogenicrs121908363GRCh37Chr 7, 107350571: 107350571
10NM_000441.1(SLC26A4): c.-103T> Csingle nucleotide variantPathogenicrs60284988GRCh37Chr 7, 107301201: 107301201
11NM_000441.1(SLC26A4): c.85G> C (p.Glu29Gln)single nucleotide variantPathogenicrs111033205GRCh37Chr 7, 107302171: 107302171
12SLC26A4NM_000441.1(SLC26A4): c.919-2A> Gsingle nucleotide variantPathogenicrs111033313GRCh37Chr 7, 107323898: 107323898
13SLC26A4NM_000441.1(SLC26A4): c.1540C> A (p.Gln514Lys)single nucleotide variantPathogenicrs121908366GRCh37Chr 7, 107336480: 107336480
14SLC26A4NM_000441.1(SLC26A4): c.1003T> C (p.Phe335Leu)single nucleotide variantLikely pathogenic, Pathogenicrs111033212GRCh37Chr 7, 107329499: 107329499
15KCNJ10NM_002241.4(KCNJ10): c.581C> A (p.Pro194His)single nucleotide variantPathogenicrs137853073GRCh37Chr 1, 160011742: 160011742
16KCNJ10NM_002241.4(KCNJ10): c.1042C> T (p.Arg348Cys)single nucleotide variantPathogenicrs137853074GRCh37Chr 1, 160011281: 160011281
17FOXI1NM_012188.4(FOXI1): c.773G> A (p.Gly258Glu)single nucleotide variantPathogenicrs121909340GRCh37Chr 5, 169535251: 169535251
18FOXI1NM_012188.4(FOXI1): c.800G> A (p.Arg267Gln)single nucleotide variantPathogenicrs121909341GRCh37Chr 5, 169535278: 169535278
19SLC26A4NM_000441.1(SLC26A4): c.997dupA (p.Arg333Lysfs)duplicationPathogenicrs431905486GRCh37Chr 7, 107323978: 107323979

Expression for genes affiliated with Enlarged Vestibular Aqueduct

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2BioGPS, 16Gene 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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51PathCards, 61Thomson Reuters, 31KEGG, 56Reactome, 13EMD Millipore, 39NCBI BioSystems Database, 54QIAGEN
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Compounds for genes affiliated with Enlarged Vestibular Aqueduct

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46Novoseek, 25HMDB, 12DrugBank, 52PharmGKB, 30IUPHAR, 62Tocris Bioscience, 3BitterDB
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Compounds related to Enlarged Vestibular Aqueduct according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1perchlorate469.8SLC26A4, TG
2sodium iodide469.8TG, SLC26A4
3iodine46 2510.7SLC26A4, TG
4iodide46 2510.7TG, SLC26A4
5ganciclovir46 1210.5TG, GJB2
6nortriptyline52 46 30 1212.5SLC6A4, KCNJ10
710panx629.4GJB3, GJB6, GJB2
8gap 27629.4GJB6, GJB2, GJB3
9carbenoxolone disodium629.4GJB6, GJB2, GJB3
10scrambled 10panx629.4GJB6, GJB2, GJB3
11octanol30 2510.4GJB6, GJB2, GJB3
12carbenoxolone46 30 1211.4GJB3, GJB2, GJB6
13ca2+309.4GJB6, GJB2, GJB3
14flufenamic acid30 46 3 1212.4GJB3, GJB2, GJB6
15125i469.2SLC6A4, TG
16triiodothyronine469.2SLC26A4, TG
17ketamine46 30 1211.2TG, SLC6A4
18spec-t469.1SLC6A4, TG
19sodium46 259.7SLC26A4, SLC6A4, TG
20h2o2468.7SLC26A4, SLC6A4, TG
21aspartate468.5TG, GJB2, SLC6A4

GO Terms for genes affiliated with Enlarged Vestibular Aqueduct

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17Gene Ontology
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Cellular components related to Enlarged Vestibular Aqueduct according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:0163249.2SLC26A4, GJB6, KCNJ10
2connexon complexGO:0059228.8GJB3, GJB2, GJB6

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

idNameGO IDScoreTop Affiliating Genes
1cell communicationGO:0071549.5GJB3, GJB6
2sensory perception of soundGO:0076058.4SLC26A4, GJB3, GJB2, GJB6

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

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:0052439.6GJB3, GJB2

Products for genes affiliated with Enlarged Vestibular Aqueduct

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  • Antibodies
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Sources for Enlarged Vestibular Aqueduct

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet