MCID: ENL001
MIFTS: 46

Enlarged Vestibular Aqueduct malady

Summaries for Enlarged Vestibular Aqueduct

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64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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, and related mouse phenotypes are renal/urinary system and skeleton.

Description from OMIM:47 600791

Aliases & Classifications for Enlarged Vestibular Aqueduct

Sources:
8Disease Ontology, 47OMIM, 10DISEASES, 43NIH Rare Diseases, 22GTR, 45Novoseek, 61UMLS
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Aliases & Descriptions:

enlarged vestibular aqueduct 8 47 10
enlarged vestibular aqueduct syndrome 43 22 45 61
large vestibular aqueduct syndrome 43


External Ids:

Disease Ontology8 DOID:0050332
OMIM47 600791

Related Diseases for Enlarged Vestibular Aqueduct

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Enlarged Vestibular Aqueduct via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1pendred syndrome31.0TG, SLC26A4, GJB2
2sensorineural hearing loss30.8GJB3, GJB2
3pendred syndrome/dfnb430.4SLC26A4
4enlarged vestibular aqueduct, digenic10.6
5n syndrome10.6
6mondini dysplasia10.6
7otosclerosis10.4
8adult syndrome10.4
9deafness, autosomal recessive 4, with enlarged vestibular aqueduct10.4
10endolymphatic hydrops10.3
11young syndrome10.3
12congenital cytomegalovirus10.3
13cytomegalovirus infection10.3
14renal hypoplasia10.3
15keratoderma10.0GJB2
16usher syndrome10.0GJB2
17ectodermal dysplasia10.0GJB2
18keratosis10.0GJB2
19erythrokeratodermia variabilis10.0GJB3, GJB2
20dfnb110.0GJB6, GJB2
21bart-pumphrey syndrome10.0GJB6, GJB2
22dfnb 1 nonsyndromic hearing loss and deafness10.0GJB6, GJB2
23dfna 3 nonsyndromic hearing loss and deafness10.0GJB6, GJB2
24hidrotic ectodermal dysplasia 210.0GJB6, GJB2
25branchiootorenal spectrum disorders10.0EYA1, SIX1
26palmoplantar keratosis10.0GJB6
27lacrimal duct obstruction10.0EYA1, SIX1
28primary hyperoxaluria10.0SIX1, EYA1
29nonepidermolytic palmoplantar keratoderma10.0GJB3, GJB2
30branchiootorenal syndrome10.0EYA1, SIX1
31clouston syndrome10.0GJB2, GJB3, GJB6
32renal tubular acidosis10.0SLC26A4, ATP6V0A4, FOXI1
33thyroid cancer, anaplastic10.0TG, SLC26A4
34skin disease10.0GJB2, GJB3, GJB6
35hypothyroidism10.0TG, SLC26A4
36hodgkin's lymphoma, nodular sclerosis10.0TMC1, SLC26A4, GJB3, GJB6
37multinodular goiter10.0TG, SLC26A4
38nonsyndromic deafness10.0TMC1, TECTB, SLC26A4, GJB2, GJB3, GJB6

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



Diseases related to enlarged vestibular aqueduct

Clinical Features for Enlarged Vestibular Aqueduct

Sources:
47OMIM
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Clinical features from OMIM:

600791

Drugs & Therapeutics for Enlarged Vestibular Aqueduct

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Enlarged Vestibular Aqueduct:

33
Thyroid

Animal Models for Enlarged Vestibular Aqueduct or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Enlarged Vestibular Aqueduct

Sources:
51PubMed
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Articles related to Enlarged Vestibular Aqueduct:

(show top 50)    (show all 79)
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
Compound heterozygous mutations of SLC26A4 in 4 Chinese families with enlarged vestibular aqueduct. (23385134)
2013
4
Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China. (23918157)
2013
5
Acoustically evoked short latency negative responses in hearing loss patients with enlarged vestibular aqueduct. (23055113)
2013
6
Correlation analysis of genotypes, auditory function, and vestibular size in Chinese children with enlarged vestibular aqueduct syndrome. (24245694)
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
Misdiagnosis of otosclerosis in a patient with enlarged vestibular aqueduct syndrome: a case report. (22747696)
2012
11
Enlarged vestibular aqueduct may precipitate benign paroxysmal positional vertigo in children. (22582772)
2012
12
Coronal CT scan measurements and hearing evolution in enlarged vestibular aqueduct syndrome. (22281371)
2012
13
Clinical, audiometric, radiologic, and genetic profiles of Southeast Asian children with hearing loss due to enlarged vestibular aqueduct. (21986928)
2011
14
Endolymphatic sac abscess in the setting of enlarged vestibular aqueduct syndrome. (21765379)
2011
15
Hemorrhage in the endolymphatic sac: a cause of hearing fluctuation in enlarged vestibular aqueduct. (21963424)
2011
16
Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. (21961810)
2011
17
Characteristics of vestibular evoked myogenic potentials in children with enlarged vestibular aqueduct. (21132770)
2011
18
Enlarged vestibular aqueduct: review of controversial aspects. (22024854)
2011
19
Cochlear implantation in children with enlarged vestibular aqueduct. (20641086)
2010
20
Diagnostic function of SLC26A4 hot spot mutations screening to enlarged vestibular aqueduct syndrome]. (21174747)
2010
21
Preimplantation genetic diagnosis (embryo screening) for enlarged vestibular aqueduct due to SLC26A4 mutation. (20160438)
2010
22
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct. (20621367)
2010
23
Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians. (19645628)
2009
24
Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct. (19786220)
2009
25
Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts. (19620588)
2009
26
A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome. (19565036)
2009
27
Enlarged vestibular aqueduct in pediatric sensorineural hearing loss. (19328346)
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
Association of SLC26A4 mutations with clinical features and thyroid function in deaf infants with enlarged vestibular aqueduct. (16924389)
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
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
Relation between CSF gusher and large endolymphatic sac in the enlarged vestibular aqueduct syndrome during cochlear implantation. (18792246)
2004
41
Enlarged vestibular aqueduct syndrome in the pediatric population. (12851556)
2003
42
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
43
A case of enlarged vestibular aqueduct syndrome with PDS gene mutations]. (11905055)
2002
44
Enlarged vestibular aqueduct in two male siblings. (12418797)
2002
45
Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome. (11568672)
2001
46
Vertigo and the enlarged vestibular aqueduct syndrome. (11757961)
2001
47
Hearing preservation mastoidectomy in otogenic meningitis secondary to an enlarged vestibular aqueduct. Case report. (12489589)
2000
48
Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene. (10051166)
1999
49
Endolymphatic sac occlusion for the enlarged vestibular aqueduct syndrome. (9520049)
1998
50
Enlarged vestibular aqueduct as a marker for hearing loss in children. (9825214)
1998

Genetic Variations for Enlarged Vestibular Aqueduct

Expression for genes affiliated with Enlarged Vestibular Aqueduct

Sources:
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

Sources:
38NCBI BioSystems Database, 52QIAGEN, 54Reactome
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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

Sources:
45Novoseek, 60Tocris Bioscience, 24HMDB, 29IUPHAR, 11DrugBank, 2BitterDB, 50PharmGKB
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Compounds related to Enlarged Vestibular Aqueduct according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1perchlorate4510.0SLC26A4, TG
2sodium iodide459.9TG, SLC26A4
310panx609.9GJB2, GJB6, GJB3
4gap 27609.9GJB6, GJB3, GJB2
5iodine45 2410.9TG, SLC26A4
6carbenoxolone disodium609.9GJB6, GJB3, GJB2
7scrambled 10panx609.9GJB6, GJB3, GJB2
8octanol29 2410.9GJB6, GJB3, GJB2
9carbenoxolone29 45 1111.8GJB2, GJB3, GJB6
10ca2+299.8GJB6, GJB3, GJB2
11flufenamic acid45 29 2 1112.8GJB2, GJB3, GJB6
12nortriptyline45 50 29 1112.8KCNJ10, SLC6A4
13iodide45 2410.7TG, SLC26A4
14125i459.5TG, SLC6A4
15spec-t459.5TG, SLC6A4
16ketamine45 29 1111.2TG, SLC6A4

GO Terms for genes affiliated with Enlarged Vestibular Aqueduct

Sources:
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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  • Proteins
  • Lysates
  • Antibodies

Sources for Enlarged Vestibular Aqueduct

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet