MCID: DFN245
MIFTS: 34

Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct malady

Genetic diseases, Rare diseases, Ear diseases categories

Summaries for Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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OMIM:45 DFNB4 with enlarged vestibular aqueduct is characterized by pre- or perilingual onset of sensorineural or mixed hearing... (600791) more...

MalaCards based summary: Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct, also known as enlarged vestibular aqueduct, is related to pendred syndrome and sensorineural hearing loss, and has symptoms including autosomal recessive inheritance, incomplete partition of the cochlea type ii and sensorineural hearing impairment. An important gene associated with Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct is SLC26A4 (solute carrier family 26 (anion exchanger), member 4). Affiliated tissues include bone, and related mouse phenotypes are renal/urinary system and hearing/vestibular/ear.

Aliases & Classifications for Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct, Aliases & Descriptions:

Name: Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 45 10
Enlarged Vestibular Aqueduct 45 9 11 60
Enlarged Vestibular Aqueduct Syndrome 41 43 22
 
Enlarged Vestibular Aqueduct, Digenic 45
Large Vestibular Aqueduct Syndrome 41


Classifications:

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


External Ids:

OMIM45 600791
Disease Ontology9 DOID:0050332

Related Diseases for Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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Diseases related to Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1pendred syndrome31.4SLC26A4
2sensorineural hearing loss30.9KCNJ10, SLC26A4
3mondini dysplasia10.5
4otosclerosis10.4
5thyroiditis10.4
6endolymphatic hydrops10.3
7meningitis10.3
8congenital cytomegalovirus10.3
9cytomegalovirus infection10.3
10head injury10.3
11pendred syndrome/dfnb410.2SLC26A4
12renal tubular acidosis9.8FOXI1, SLC26A4
13nonsyndromic deafness9.7FOXI1, SLC26A4

Graphical network of diseases related to Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct:



Diseases related to deafness, autosomal recessive 4, with enlarged vestibular aqueduct

Symptoms for Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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Symptoms by clinical synopsis from OMIM:

600791

Clinical features from OMIM:

600791

HPO human phenotypes related to Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 incomplete partition of the cochlea type ii HP:0000376
3 sensorineural hearing impairment HP:0000407
4 enlarged vestibular aqueduct HP:0011387

Drugs & Therapeutics for Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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Drug clinical trials:

Search ClinicalTrials for Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct

Search NIH Clinical Center for Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct

Genetic Tests for Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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Genetic tests related to Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct:

id Genetic test Affiliating Genes
1 Enlarged Vestibular Aqueduct Syndrome22

Anatomical Context for Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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MalaCards organs/tissues related to Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct:

31
Bone

Animal Models for Deafness, Autosomal Recessive 4, with Enlarged Vestibular... or affiliated genes

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MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.0SLC26A4, FOXI1
2MP:00053778.6SLC26A4, FOXI1, KCNJ10
3MP:00053868.5KCNJ10, FOXI1, SLC26A4
4MP:00036318.4SLC26A4, FOXI1, KCNJ10
5MP:00053768.2KCNJ10, FOXI1, SLC26A4

Publications for Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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Variations for Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 4, with 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

Clinvar genetic disease variations for Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct:

6 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC26A4NM_000441.1(SLC26A4): c.765+3A> Csingle nucleotide variantLikely pathogenicGRCh37Chr 7, 107315557: 107315557
2SLC26A4NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser)single nucleotide variantPathogenicrs111033308GRCh37Chr 7, 107336429: 107336429
3SLC26A4SLC26A4, 1-BP DEL, 917TdeletionPathogenic
4SLC26A4NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser)single nucleotide variantPathogenicrs111033308GRCh37Chr 7, 107336429: 107336429
5SLC26A4NM_000441.1(SLC26A4): c.626G> T (p.Gly209Val)single nucleotide variantPathogenicrs111033303GRCh37Chr 7, 107315415: 107315415
6SLC26A4NM_000441.1(SLC26A4): c.1105A> G (p.Lys369Glu)single nucleotide variantPathogenicrs121908361GRCh37Chr 7, 107329601: 107329601
7SLC26A4NM_000441.1(SLC26A4): c.1115C> T (p.Ala372Val)single nucleotide variantPathogenicrs121908364GRCh37Chr 7, 107329611: 107329611
8SLC26A4SLC26A4, 5-BP INS, NT2111insertionPathogenic
9SLC26A4NM_000441.1(SLC26A4): c.2168A> G (p.His723Arg)single nucleotide variantPathogenicrs121908362GRCh37Chr 7, 107350577: 107350577
10SLC26A4NM_000441.1(SLC26A4): c.2162C> T (p.Thr721Met)single nucleotide variantPathogenicrs121908363GRCh37Chr 7, 107350571: 107350571
11NM_000441.1(SLC26A4): c.-103T> Csingle nucleotide variantPathogenicrs60284988GRCh37Chr 7, 107301201: 107301201
12NM_000441.1(SLC26A4): c.85G> C (p.Glu29Gln)single nucleotide variantPathogenicrs111033205GRCh37Chr 7, 107302171: 107302171
13SLC26A4NM_000441.1(SLC26A4): c.919-2A> Gsingle nucleotide variantPathogenicrs111033313GRCh37Chr 7, 107323898: 107323898
14SLC26A4NM_000441.1(SLC26A4): c.1540C> A (p.Gln514Lys)single nucleotide variantPathogenicrs121908366GRCh37Chr 7, 107336480: 107336480
15SLC26A4NM_000441.1(SLC26A4): c.1003T> C (p.Phe335Leu)single nucleotide variantLikely pathogenic, Pathogenicrs111033212GRCh37Chr 7, 107329499: 107329499
16KCNJ10NM_002241.4(KCNJ10): c.581C> A (p.Pro194His)single nucleotide variantPathogenicrs137853073GRCh37Chr 1, 160011742: 160011742
17KCNJ10NM_002241.4(KCNJ10): c.1042C> T (p.Arg348Cys)single nucleotide variantPathogenicrs137853074GRCh37Chr 1, 160011281: 160011281
18FOXI1NM_012188.4(FOXI1): c.773G> A (p.Gly258Glu)single nucleotide variantPathogenicrs121909340GRCh37Chr 5, 169535251: 169535251
19FOXI1NM_012188.4(FOXI1): c.800G> A (p.Arg267Gln)single nucleotide variantPathogenicrs121909341GRCh37Chr 5, 169535278: 169535278
20SLC26A4NM_000441.1(SLC26A4): c.997dupA (p.Arg333Lysfs)duplicationPathogenicrs431905486GRCh37Chr 7, 107323978: 107323979

Expression for genes affiliated with Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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Search GEO for disease gene expression data for Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct.

Pathways for genes affiliated with Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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Compounds for genes affiliated with Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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GO Terms for genes affiliated with Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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Cellular components related to Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:00163249.3SLC26A4, KCNJ10

Products for genes affiliated with Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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Sources for Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
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50PubMed
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60UMLS
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