MCID: DFN245
MIFTS: 43

Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct malady

Categories: Genetic diseases, Rare diseases, Ear diseases, Neuronal diseases

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

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

Name: Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 49 11 65
Enlarged Vestibular Aqueduct 49 10 12 67
Enlarged Vestibular Aqueduct Syndrome 45 47 24
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4 67
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4 67
Neurosensory Nonsyndromic Recessive Deafness 4 67
Deafness Neurosensory Autosomal Recessive 4 67
 
Enlarged Vestibular Aqueduct, Digenic 49
Large Vestibular Aqueduct Syndrome 45
Deafness, Autosomal Recessive, 4 67
Nsrd4 67
Dfnb4 67
Eva 67

Characteristics:

HPO:

61
deafness, autosomal recessive 4, with enlarged vestibular aqueduct:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 600791
Disease Ontology10 DOID:0050332
MedGen34 C1863752
MeSH36 D006319
UMLS65 C3538946

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

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OMIM:49 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 thyroid lymphoma and pendred syndrome/dfnb4, and has symptoms including enlarged vestibular aqueduct, sensorineural hearing impairment and incomplete partition of the cochlea type ii. An important gene associated with Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct is SLC26A4 (Solute Carrier Family 26 Member 4), and among its related pathways is Gap junction trafficking. Affiliated tissues include bone and brain, and related mouse phenotypes are homeostasis/metabolism and nervous system.

UniProtKB/Swiss-Prot:67 Deafness, autosomal recessive, 4: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB4 is associated with an enlarged vestibular aqueduct.

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 top 50)    (show all 116)
idRelated DiseaseScoreTop Affiliating Genes
1thyroid lymphoma29.2ATP6V1B1, DFNA5, GJB2, GJB3, GJB6, SLC26A4
2pendred syndrome/dfnb411.9
3pendred syndrome11.7
4leukemia10.5
5lymphoma10.5
6goiter10.4FOXI1, SLC26A4
7nonsyndromic hearing loss and deafness, dfnb110.4GJB2, GJB6
8myocardial infarction 210.4GJB2, GJB6
9pseudoaminopterin syndrome10.3GJB3, GJB6
10peroxisome biogenesis disorders, zellweger syndrome spectrum10.3FOXI1, KCNJ10, SLC26A4
11congenital deafness with vitiligo and achalasia10.3GJB2, GJB6
12ectodermal dysplasia 2, clouston type10.3GJB2, GJB6
13megalencephaly, polymicrogyria, and hydrocephalus syndrome10.3ATP6V0A4, ATP6V1B1
14rheumatoid arthritis10.3
15hutchinson-gilford progeria10.3
16lung cancer10.3
17asthma10.3
18hodgkin lymphoma10.3
19renal cell carcinoma10.3
20multiple myeloma10.3
21pulmonary hypertension10.3
22arthritis10.3
23bronchopulmonary dysplasia10.3
24congestive heart failure10.3
25hemangioma10.3
26liver cirrhosis10.3
27liver disease10.3
28erythema multiforme10.3
29extrapulmonary tuberculosis10.3
30myeloma10.3
31wernicke-korsakoff syndrome10.3
32myopia10.3
33beriberi10.3
34interstitial cystitis10.3
35neuronal ceroid lipofuscinosis10.3
36cystitis10.3
37relapsing polychondritis10.3
38kidney cancer10.3
39severe acute respiratory syndrome10.3
40rhabdomyosarcoma10.3
41neurodermatitis10.3
42cerebritis10.3
43laryngitis10.3
44choriocarcinoma10.3
45retinitis10.3
46arthropathy10.3
47progeria10.3
48tuberculosis10.3
49coronary stenosis10.3
50uremia10.3

Graphical network of the top 20 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 enlarged vestibular aqueduct HP:0011387
2 sensorineural hearing impairment HP:0000407
3 incomplete partition of the cochlea type ii HP:0000376

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

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Development and Clinical Application of Two New Genetic Deafness Gene Diagnostic KitRecruitingNCT02418936
2Clinical and Genetic Analysis of Enlarged Vestibular AqueductsRecruitingNCT00023036

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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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:

33
Bone, Brain

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.3ATP6V0A4, ATP6V1B1, CDH23, FOXI1, GJB2, GJB3
2MP:00036316.9CDH23, DFNA5, FOXI1, GJB2, GJB6, KCNJ10
3MP:00053866.8ATP6V0A4, ATP6V1B1, CDH23, FOXI1, GJB6, KCNJ10
4MP:00053776.1ATP6V0A4, ATP6V1B1, CDH23, DFNA5, FOXI1, GJB2

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:

67 (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:

5 (show all 68)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC26A4NM_000441.1(SLC26A4): c.765+3A> Csingle nucleotide variantLikely pathogenicrs483353048GRCh37Chr 7, 107315557: 107315557
2NM_000441.1(SLC26A4): c.-4+5G> Asingle nucleotide variantLikely pathogenicrs727503425GRCh37Chr 7, 107301305: 107301305
3SLC26A4NM_000441.1(SLC26A4): c.1554G> A (p.Trp518Ter)single nucleotide variantPathogenicrs727503428GRCh37Chr 7, 107338496: 107338496
4SLC26A4NM_000441.1(SLC26A4): c.2089+1G> Asingle nucleotide variantPathogenicrs727503430GRCh37Chr 7, 107344831: 107344831
5SLC26A4NM_000441.1(SLC26A4): c.2215C> T (p.Gln739Ter)single nucleotide variantPathogenicrs727503431GRCh37Chr 7, 107350624: 107350624
6SLC26A4NM_000441.1(SLC26A4): c.1614+1G> Csingle nucleotide variantPathogenicrs111033312GRCh37Chr 7, 107338557: 107338557
7SLC26A4NM_000441.1(SLC26A4): c.1707+6T> Csingle nucleotide variantLikely pathogenicrs727505230GRCh38Chr 7, 107700181: 107700181
8NM_000441.1(SLC26A4): c.-3-2A> Gsingle nucleotide variantPathogenicrs397516411GRCh37Chr 7, 107302082: 107302082
9SLC26A4NM_000441.1(SLC26A4): c.1149+3A> Gsingle nucleotide variantPathogenicrs111033314GRCh37Chr 7, 107329648: 107329648
10SLC26A4NM_000441.1(SLC26A4): c.1198delT (p.Cys400Valfs)deletionLikely pathogenic, Pathogenicrs397516413GRCh37Chr 7, 107330617: 107330617
11SLC26A4NM_000441.1(SLC26A4): c.1204G> A (p.Val402Met)single nucleotide variantLikely pathogenicrs397516414GRCh37Chr 7, 107330623: 107330623
12SLC26A4NM_000441.1(SLC26A4): c.1226G> A (p.Arg409His)single nucleotide variantPathogenicrs111033305GRCh37Chr 7, 107330645: 107330645
13SLC26A4NM_000441.1(SLC26A4): c.1226G> C (p.Arg409Pro)single nucleotide variantLikely pathogenicrs111033305GRCh37Chr 7, 107330645: 107330645
14SLC26A4NM_000441.1(SLC26A4): c.1229C> T (p.Thr410Met)single nucleotide variantPathogenicrs111033220GRCh37Chr 7, 107330648: 107330648
15SLC26A4NM_000441.1(SLC26A4): c.1264-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs111033311GRCh37Chr 7, 107334847: 107334847
16SLC26A4NM_000441.1(SLC26A4): c.1284_1286delTGC (p.Ala429del)deletionLikely pathogenicrs111033306GRCh37Chr 7, 107334868: 107334870
17SLC26A4NM_000441.1(SLC26A4): c.1336C> T (p.Gln446Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397516416GRCh37Chr 7, 107334920: 107334920
18SLC26A4NM_000441.1(SLC26A4): c.1341+1delGdeletionPathogenicrs397516417GRCh37Chr 7, 107334926: 107334926
19SLC26A4NM_000441.1(SLC26A4): c.1342-2_1343dupAGTCduplicationPathogenicrs111033407GRCh37Chr 7, 107335064: 107335067
20SLC26A4NM_000441.1(SLC26A4): c.1437+2T> Gsingle nucleotide variantPathogenicrs397516418GRCh37Chr 7, 107335163: 107335163
21SLC26A4NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser)single nucleotide variantLikely pathogenic, Pathogenicrs111033308GRCh37Chr 7, 107336429: 107336429
22SLC26A4NM_000441.1(SLC26A4): c.1541A> G (p.Gln514Arg)single nucleotide variantLikely pathogenicrs111033316GRCh37Chr 7, 107336481: 107336481
23SLC26A4NM_000441.1(SLC26A4): c.1548_1549insC (p.Ser517Leufs)insertionLikely pathogenicrs111033317GRCh37Chr 7, 107338490: 107338491
24SLC26A4NM_000441.1(SLC26A4): c.1614+1G> Asingle nucleotide variantPathogenicrs111033312GRCh37Chr 7, 107338557: 107338557
25SLC26A4NM_000441.1(SLC26A4): c.164+2T> Csingle nucleotide variantPathogenicrs397516420GRCh37Chr 7, 107302252: 107302252
26SLC26A4NM_000441.1(SLC26A4): c.1694G> A (p.Cys565Tyr)single nucleotide variantLikely pathogenicrs111033257GRCh37Chr 7, 107340607: 107340607
27SLC26A4NM_000441.1(SLC26A4): c.170C> G (p.Ser57Ter)single nucleotide variantLikely pathogenicrs111033200GRCh37Chr 7, 107303746: 107303746
28SLC26A4NM_000441.1(SLC26A4): c.1963A> G (p.Ile655Val)single nucleotide variantLikely pathogenicrs397516424GRCh37Chr 7, 107342431: 107342431
29SLC26A4NM_000441.1(SLC26A4): c.2015G> A (p.Gly672Glu)single nucleotide variantPathogenicrs111033309GRCh37Chr 7, 107342483: 107342483
30SLC26A4NM_000441.1(SLC26A4): c.2027T> A (p.Leu676Gln)single nucleotide variantLikely pathogenic, Pathogenicrs111033318GRCh37Chr 7, 107342495: 107342495
31SLC26A4NM_000441.1(SLC26A4): c.2145G> T (p.Lys715Asn)single nucleotide variantLikely pathogenicrs397516427GRCh37Chr 7, 107350554: 107350554
32SLC26A4NM_000441.1(SLC26A4): c.2188C> T (p.Gln730Ter)single nucleotide variantPathogenicrs397516428GRCh37Chr 7, 107350597: 107350597
33SLC26A4NM_000441.1(SLC26A4): c.294_298delCACGC (p.Thr99Alafs)deletionLikely pathogenicrs111033241GRCh37Chr 7, 107303870: 107303874
34NM_000441.1(SLC26A4): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs111033302GRCh37Chr 7, 107302088: 107302088
35SLC26A4NM_000441.1(SLC26A4): c.397_398delTCinsA (p.Ser133Lysfs)indelLikely pathogenicrs111033400GRCh37Chr 7, 107312675: 107312676
36SLC26A4NM_000441.1(SLC26A4): c.589G> A (p.Gly197Arg)single nucleotide variantLikely pathogenicrs111033380GRCh37Chr 7, 107314782: 107314782
37NM_000441.1(SLC26A4): c.68C> A (p.Ser23Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397516430GRCh37Chr 7, 107302154: 107302154
38SLC26A4NM_000441.1(SLC26A4): c.716T> A (p.Val239Asp)single nucleotide variantLikely pathogenic, Pathogenicrs111033256GRCh37Chr 7, 107315505: 107315505
39SLC26A4NM_000441.1(SLC26A4): c.765+2T> Csingle nucleotide variantPathogenicrs397516432GRCh37Chr 7, 107315556: 107315556
40SLC26A4NM_000441.1(SLC26A4): c.845G> A (p.Cys282Tyr)single nucleotide variantLikely pathogenicrs111033454GRCh37Chr 7, 107323726: 107323726
41NM_000441.1(SLC26A4): c.85G> T (p.Glu29Ter)single nucleotide variantLikely pathogenicrs111033205GRCh37Chr 7, 107302171: 107302171
42SLC26A4NM_000441.1(SLC26A4): c.918+1G> Tsingle nucleotide variantLikely pathogenicrs111033245GRCh37Chr 7, 107323800: 107323800
43SLC26A4SLC26A4, 1-BP DEL, 917TdeletionPathogenic
44SLC26A4NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser)single nucleotide variantLikely pathogenic, Pathogenicrs111033308GRCh37Chr 7, 107336429: 107336429
45SLC26A4NM_000441.1(SLC26A4): c.707T> C (p.Leu236Pro)single nucleotide variantPathogenicrs80338848GRCh37Chr 7, 107315496: 107315496
46SLC26A4NM_000441.1(SLC26A4): c.1246A> C (p.Thr416Pro)single nucleotide variantPathogenicrs28939086GRCh37Chr 7, 107330665: 107330665
47SLC26A4NM_000441.1(SLC26A4): c.1001+1G> Asingle nucleotide variantPathogenicrs80338849GRCh37Chr 7, 107323983: 107323983
48SLC26A4NM_000441.1(SLC26A4): c.1151A> G (p.Glu384Gly)single nucleotide variantPathogenicrs111033244GRCh37Chr 7, 107330570: 107330570
49SLC26A4NM_000441.1(SLC26A4): c.626G> T (p.Gly209Val)single nucleotide variantPathogenicrs111033303GRCh37Chr 7, 107315415: 107315415
50SLC26A4NM_000441.1(SLC26A4): c.1105A> G (p.Lys369Glu)single nucleotide variantPathogenicrs121908361GRCh37Chr 7, 107329601: 107329601
51SLC26A4NM_000441.1(SLC26A4): c.1115C> T (p.Ala372Val)single nucleotide variantPathogenicrs121908364GRCh37Chr 7, 107329611: 107329611
52SLC26A4SLC26A4, 5-BP INS, NT2111insertionPathogenic
53SLC26A4NM_000441.1(SLC26A4): c.2168A> G (p.His723Arg)single nucleotide variantPathogenicrs121908362GRCh37Chr 7, 107350577: 107350577
54SLC26A4NM_000441.1(SLC26A4): c.2162C> T (p.Thr721Met)single nucleotide variantLikely pathogenic, Pathogenicrs121908363GRCh37Chr 7, 107350571: 107350571
55SLC26A4NM_000441.1(SLC26A4): c.1334T> G (p.Leu445Trp)single nucleotide variantPathogenicrs111033307GRCh37Chr 7, 107334918: 107334918
56SLC26A4NM_000441.1(SLC26A4): c.578C> T (p.Thr193Ile)single nucleotide variantPathogenicrs111033348GRCh37Chr 7, 107314771: 107314771
57SLC26A4NM_000441.1(SLC26A4): c.412G> T (p.Val138Phe)single nucleotide variantPathogenicrs111033199GRCh37Chr 7, 107312690: 107312690
58SLC26A4NM_000441.1(SLC26A4): c.1588T> C (p.Tyr530His)single nucleotide variantLikely pathogenic, Pathogenicrs111033254GRCh37Chr 7, 107338530: 107338530
59NM_000441.1(SLC26A4): c.-103T> Csingle nucleotide variantLikely pathogenic, Pathogenicrs60284988GRCh37Chr 7, 107301201: 107301201
60NM_000441.1(SLC26A4): c.85G> C (p.Glu29Gln)single nucleotide variantLikely pathogenic, Pathogenicrs111033205GRCh37Chr 7, 107302171: 107302171
61SLC26A4NM_000441.1(SLC26A4): c.919-2A> Gsingle nucleotide variantPathogenicrs111033313GRCh37Chr 7, 107323898: 107323898
62SLC26A4NM_000441.1(SLC26A4): c.1540C> A (p.Gln514Lys)single nucleotide variantPathogenicrs121908366GRCh37Chr 7, 107336480: 107336480
63SLC26A4NM_000441.1(SLC26A4): c.1003T> C (p.Phe335Leu)single nucleotide variantLikely pathogenic, Pathogenicrs111033212GRCh37Chr 7, 107329499: 107329499
64KCNJ10NM_002241.4(KCNJ10): c.581C> A (p.Pro194His)single nucleotide variantPathogenicrs137853073GRCh37Chr 1, 160011742: 160011742
65KCNJ10NM_002241.4(KCNJ10): c.1042C> T (p.Arg348Cys)single nucleotide variantPathogenicrs137853074GRCh37Chr 1, 160011281: 160011281
66FOXI1NM_012188.4(FOXI1): c.773G> A (p.Gly258Glu)single nucleotide variantPathogenicrs121909340GRCh37Chr 5, 169535251: 169535251
67FOXI1NM_012188.4(FOXI1): c.800G> A (p.Arg267Gln)single nucleotide variantPathogenicrs121909341GRCh37Chr 5, 169535278: 169535278
68SLC26A4NM_000441.1(SLC26A4): c.997dupA (p.Arg333Lysfs)duplicationPathogenicrs431905486GRCh37Chr 7, 107323978: 107323978

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.6GJB2, GJB3, GJB6

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

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

idNameGO IDScoreTop Affiliating Genes
1cell communicationGO:000715410.4GJB2, GJB6
2phagosome acidificationGO:009038310.0ATP6V0A4, ATP6V1B1
3regulation of membrane potentialGO:00423919.7KCNJ10, SLC26A4
4sensory perception of soundGO:00076059.6GJB2, GJB3, GJB6
5transmembrane transportGO:00550859.3ATP6V0A4, ATP6V1B1, GJB3, SLC26A4

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet