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 50 12
Enlarged Vestibular Aqueduct 50 11 13 68
Enlarged Vestibular Aqueduct Syndrome 46 25 48
Dfnb4 68 48
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4 68
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4 68
Neurosensory Nonsyndromic Recessive Deafness 4 68
 
Deafness Neurosensory Autosomal Recessive 4 68
Enlarged Vestibular Aqueduct, Digenic 50
Large Vestibular Aqueduct Syndrome 46
Deafness, Autosomal Recessive, 4 68
Nsrd4 68
Eva 68

Characteristics:

HPO:

62
deafness, autosomal recessive 4, with enlarged vestibular aqueduct:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 600791
Disease Ontology11 DOID:0050332
MedGen35 C1863752
MeSH37 D006319

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

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OMIM:50 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 pendred syndrome/dfnb4, and has symptoms including incomplete partition of the cochlea type ii, sensorineural hearing impairment and enlarged vestibular aqueduct. 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 brain and bone, and related mouse phenotypes are homeostasis/metabolism and nervous system.

UniProtKB/Swiss-Prot:68 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 all 49)
idRelated DiseaseScoreTop Affiliating Genes
1pendred syndrome11.7
2pendred syndrome/dfnb411.5
3nonsyndromic hearing loss and deafness, mitochondrial10.6GJB2, GJB6
4non-hypoproteinemic hypertrophic gastropathy10.6GJB2, GJB3
5myocardial infarction 210.6GJB2, GJB6
6phosphorylase kinase deficiency10.6FOXI1, KCNJ10, SLC26A4
7tinea corporis10.5FOXI1, SLC26A4
8calabro syndrome10.5ATP6V0A4, ATP6V1B1
9renier gabreels jasper syndrome10.4ATP6V0A4, ATP6V1B1
10usher syndrome, type 1f10.4CDH23, GJB2
11sengers syndrome10.4ATP6V0A4, ATP6V1B1
12noonan syndrome with multiple lentigines10.4GJB2, GJB3, GJB6
13deafness, autosomal dominant 3a10.4GJB2, GJB3, GJB6
14pseudohermaphrodism anorectal anomalies10.4GJB2, GJB3, GJB6
15punctate palmoplantar keratoderma type 210.4GJB2, GJB3, GJB6
16continuous spike-wave during slow sleep syndrome10.3GJB2, GJB3, GJB6
17sensorineural hearing loss10.3
18troyer syndrome10.3GJB2, GJB6
19erythrokeratodermia variabilis et progressiva10.3GJB2, GJB3, GJB6
20dementia, familial british10.3GJB2, GJB3, GJB6
21syndactyly, type iii10.3GJB2, GJB3
22ectodermal dysplasia 2, clouston type10.3GJB2, GJB6
23mondini dysplasia10.2
24spastic paraplegia 50, autosomal recessive10.2GJB2, GJB3
25autosomal genetic disease10.1ATP6V0A4, ATP6V1B1, SLC26A4
26small non-cleaved cell lymphoma10.1GJB2, GJB3, GJB6
27otosclerosis10.1
28thyroiditis10.1
29thumb deformity, alopecia, pigmentation anomaly10.1GJB2, GJB6, MT-RNR1
30epiphyseal dysplasia, multiple, 410.1FOXI1, SLC26A4
31dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia10.1GJB2, GJB6, MT-RNR1
32diabetes mellitus, 6q24-related transient neonatal10.0CDH23, GJB2, MT-RNR1
33secondary ciliary dyskinesia10.0MT-RNR1, TRMU
34meningitis10.0
35congenital cytomegalovirus10.0
36cytomegalovirus infection10.0
37head injury10.0
38adenylosuccinase deficiency9.9MT-RNR1, TRMU
39nuclear gene-encoded leigh syndrome9.9MT-RNR1, TRMU
40deafness, autosomal recessive 4, with enlarged vestibular aqueduct9.8FOXI1, GJB2, KCNJ10, MPZL2, PTGDS, SLC26A4
41endometritis9.7ATP6V1B1, DFNA5, GJB2, GJB6, SLC26A4
42self-healing papular mucinosis9.4DFNA5, GJB2, GJB3, GJB6, POU4F3
43nonsyndromic hearing loss and deafness, autosomal recessive9.3GJB2, GJB3, GJB6, MT-RNR1, TRMU
44localized lichen myxedematosus with mixed features of different subtypes9.0CDH23, GJB2, GJB3, GJB6, MYO15A, SLC26A4
45autosomal recessive nonsyndromic deafness9.0CDH23, GJB2, GJB3, GJB6, MYO15A, SLC26A4
46sublingual gland cancer8.9GJB2, GJB3, GJB6, MT-RNR1, MYO15A, SLC26A4
47hyperimmunoglobulin syndrome8.4ATP6V0A4, ATP6V1B1, CDH23, FOXI1, GJB2, GJB3
48pyelitis7.9ATP6V1B1, CDH23, FOXI1, GJB2, GJB3, GJB6
49dihydrolipoamide dehydrogenase deficiency5.0ATP6V0A4, ATP6V1B1, CDH23, DFNA5, FOXI1, GJB2

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

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
3Enlarged Vestibular Aqueduct RegistryRecruitingNCT02798783

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 Syndrome25
2 Enlarged Vestibular Aqueduct25

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:

34
Brain, 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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.1ATP6V0A4, ATP6V1B1, CDH23, FOXI1, GJB2, GJB3
2MP:00036316.9CDH23, DFNA5, FOXI1, GJB2, GJB6, KCNJ10
3MP:00053776.8ATP6V0A4, ATP6V1B1, CDH23, DFNA5, FOXI1, GJB2
4MP:00053866.6ATP6V0A4, ATP6V1B1, CDH23, FOXI1, GJB6, KCNJ10

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:

68 (show all 32)
id Symbol AA change Variation ID SNP ID
1SLC26A4p.Gly209ValVAR_007440rs111033303
2SLC26A4p.Leu236ProVAR_007441rs80338848
3SLC26A4p.Lys369GluVAR_007442rs121908361
4SLC26A4p.Ala372ValVAR_007443rs121908364
5SLC26A4p.Thr416ProVAR_007445rs28939086
6SLC26A4p.Gly497SerVAR_007446rs111033308
7SLC26A4p.Thr721MetVAR_007448rs121908363
8SLC26A4p.His723ArgVAR_007449rs121908362
9SLC26A4p.Leu445TrpVAR_011624rs111033307
10SLC26A4p.Ser28ArgVAR_021639rs539699299
11SLC26A4p.Ser90LeuVAR_021642rs370588279
12SLC26A4p.Leu117PheVAR_021647rs145254330
13SLC26A4p.Thr132IleVAR_021648
14SLC26A4p.Val239AspVAR_021653rs111033256
15SLC26A4p.Ser252ProVAR_021654
16SLC26A4p.Phe335LeuVAR_021656rs111033212
17SLC26A4p.Asn392TyrVAR_021658rs201562855
18SLC26A4p.Arg409ProVAR_021660rs111033305
19SLC26A4p.Thr410MetVAR_021661rs111033220
20SLC26A4p.Gln446ArgVAR_021665rs768471577
21SLC26A4p.Ile455PheVAR_021666rs375576481
22SLC26A4p.Asn457LysVAR_021667
23SLC26A4p.Ile490LeuVAR_021669rs200511789
24SLC26A4p.Leu676GlnVAR_021678rs111033318
25SLC26A4p.Pro123SerVAR_027238
26SLC26A4p.Met147ValVAR_027239rs760413427
27SLC26A4p.Tyr530SerVAR_027242rs747636919
28SLC26A4p.Ser666PheVAR_027244
29SLC26A4p.Val402MetVAR_058580rs397516414
30SLC26A4p.Met775ThrVAR_058581
31SLC26A4p.Val281IleVAR_064992rs727505080
32SLC26A4p.Asn558LysVAR_064993

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

5 (show all 75)
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
8SLC26A4NM_000441.1(SLC26A4): c.554G> C (p.Arg185Thr)single nucleotide variantLikely pathogenic, Pathogenicrs542620119GRCh37Chr 7, 107314747: 107314747
9SLC26A4NM_000441.1(SLC26A4): c.1544+1G> Asingle nucleotide variantPathogenicrs876657722GRCh38Chr 7, 107696040: 107696040
10SLC26A4NM_000441.1(SLC26A4): c.2171A> G (p.Asp724Gly)single nucleotide variantPathogenicrs757820624GRCh37Chr 7, 107350580: 107350580
11SLC26A4NM_000441.1(SLC26A4): c.2224delA (p.Ile742Phefs)deletionPathogenicrs876657723GRCh38Chr 7, 107710188: 107710188
12SLC26A4NM_000441.1(SLC26A4): c.578C> T (p.Thr193Ile)single nucleotide variantPathogenicrs111033348GRCh37Chr 7, 107314771: 107314771
13NM_000441.1(SLC26A4): c.-3-2A> Gsingle nucleotide variantPathogenicrs397516411GRCh37Chr 7, 107302082: 107302082
14SLC26A4NM_000441.1(SLC26A4): c.1149+3A> Gsingle nucleotide variantPathogenicrs111033314GRCh37Chr 7, 107329648: 107329648
15SLC26A4NM_000441.1(SLC26A4): c.1198delT (p.Cys400Valfs)deletionLikely pathogenic, Pathogenicrs397516413GRCh37Chr 7, 107330617: 107330617
16SLC26A4NM_000441.1(SLC26A4): c.1204G> A (p.Val402Met)single nucleotide variantLikely pathogenicrs397516414GRCh37Chr 7, 107330623: 107330623
17SLC26A4NM_000441.1(SLC26A4): c.1226G> A (p.Arg409His)single nucleotide variantPathogenicrs111033305GRCh37Chr 7, 107330645: 107330645
18SLC26A4NM_000441.1(SLC26A4): c.1226G> C (p.Arg409Pro)single nucleotide variantLikely pathogenicrs111033305GRCh37Chr 7, 107330645: 107330645
19SLC26A4NM_000441.1(SLC26A4): c.1229C> T (p.Thr410Met)single nucleotide variantPathogenicrs111033220GRCh37Chr 7, 107330648: 107330648
20SLC26A4NM_000441.1(SLC26A4): c.1264-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs111033311GRCh37Chr 7, 107334847: 107334847
21SLC26A4NM_000441.1(SLC26A4): c.1284_1286delTGC (p.Ala429del)deletionLikely pathogenic, Pathogenicrs111033306GRCh37Chr 7, 107334868: 107334870
22SLC26A4NM_000441.1(SLC26A4): c.1336C> T (p.Gln446Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397516416GRCh37Chr 7, 107334920: 107334920
23SLC26A4NM_000441.1(SLC26A4): c.1341+1delGdeletionPathogenicrs397516417GRCh37Chr 7, 107334926: 107334926
24SLC26A4NM_000441.1(SLC26A4): c.1342-2_1343dupAGTCduplicationPathogenicrs111033407GRCh37Chr 7, 107335064: 107335067
25SLC26A4NM_000441.1(SLC26A4): c.1437+2T> Gsingle nucleotide variantPathogenicrs397516418GRCh37Chr 7, 107335163: 107335163
26SLC26A4NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser)single nucleotide variantLikely pathogenic, Pathogenicrs111033308GRCh37Chr 7, 107336429: 107336429
27SLC26A4NM_000441.1(SLC26A4): c.1541A> G (p.Gln514Arg)single nucleotide variantLikely pathogenicrs111033316GRCh37Chr 7, 107336481: 107336481
28SLC26A4NM_000441.1(SLC26A4): c.1548_1549insC (p.Ser517Leufs)insertionLikely pathogenicrs111033317GRCh37Chr 7, 107338490: 107338491
29SLC26A4NM_000441.1(SLC26A4): c.1614+1G> Asingle nucleotide variantPathogenicrs111033312GRCh37Chr 7, 107338557: 107338557
30SLC26A4NM_000441.1(SLC26A4): c.164+2T> Csingle nucleotide variantPathogenicrs397516420GRCh37Chr 7, 107302252: 107302252
31SLC26A4NM_000441.1(SLC26A4): c.1694G> A (p.Cys565Tyr)single nucleotide variantLikely pathogenicrs111033257GRCh37Chr 7, 107340607: 107340607
32SLC26A4NM_000441.1(SLC26A4): c.170C> G (p.Ser57Ter)single nucleotide variantLikely pathogenicrs111033200GRCh37Chr 7, 107303746: 107303746
33SLC26A4NM_000441.1(SLC26A4): c.1963A> G (p.Ile655Val)single nucleotide variantLikely pathogenicrs397516424GRCh37Chr 7, 107342431: 107342431
34SLC26A4NM_000441.1(SLC26A4): c.2015G> A (p.Gly672Glu)single nucleotide variantPathogenicrs111033309GRCh37Chr 7, 107342483: 107342483
35SLC26A4NM_000441.1(SLC26A4): c.2027T> A (p.Leu676Gln)single nucleotide variantLikely pathogenic, Pathogenicrs111033318GRCh37Chr 7, 107342495: 107342495
36SLC26A4NM_000441.1(SLC26A4): c.2145G> T (p.Lys715Asn)single nucleotide variantLikely pathogenicrs397516427GRCh37Chr 7, 107350554: 107350554
37SLC26A4NM_000441.1(SLC26A4): c.2188C> T (p.Gln730Ter)single nucleotide variantPathogenicrs397516428GRCh37Chr 7, 107350597: 107350597
38SLC26A4NM_000441.1(SLC26A4): c.294_298delCACGC (p.Thr99Alafs)deletionPathogenicrs111033241GRCh37Chr 7, 107303870: 107303874
39NM_000441.1(SLC26A4): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs111033302GRCh37Chr 7, 107302088: 107302088
40SLC26A4NM_000441.1(SLC26A4): c.349C> T (p.Leu117Phe)single nucleotide variantPathogenicrs145254330GRCh37Chr 7, 107312627: 107312627
41SLC26A4NM_000441.1(SLC26A4): c.397_398delTCinsA (p.Ser133Lysfs)indelLikely pathogenicrs111033400GRCh37Chr 7, 107312675: 107312676
42SLC26A4NM_000441.1(SLC26A4): c.589G> A (p.Gly197Arg)single nucleotide variantLikely pathogenicrs111033380GRCh37Chr 7, 107314782: 107314782
43NM_000441.1(SLC26A4): c.68C> A (p.Ser23Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397516430GRCh37Chr 7, 107302154: 107302154
44SLC26A4NM_000441.1(SLC26A4): c.706C> G (p.Leu236Val)single nucleotide variantLikely pathogenicrs111033242GRCh37Chr 7, 107315495: 107315495
45SLC26A4NM_000441.1(SLC26A4): c.716T> A (p.Val239Asp)single nucleotide variantLikely pathogenic, Pathogenicrs111033256GRCh37Chr 7, 107315505: 107315505
46SLC26A4NM_000441.1(SLC26A4): c.765+2T> Csingle nucleotide variantPathogenicrs397516432GRCh37Chr 7, 107315556: 107315556
47SLC26A4NM_000441.1(SLC26A4): c.845G> A (p.Cys282Tyr)single nucleotide variantLikely pathogenicrs111033454GRCh37Chr 7, 107323726: 107323726
48NM_000441.1(SLC26A4): c.85G> T (p.Glu29Ter)single nucleotide variantLikely pathogenicrs111033205GRCh37Chr 7, 107302171: 107302171
49SLC26A4NM_000441.1(SLC26A4): c.918+1G> Tsingle nucleotide variantLikely pathogenicrs111033245GRCh37Chr 7, 107323800: 107323800
50SLC26A4SLC26A4, 1-BP DEL, 917TdeletionPathogenic
51SLC26A4NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser)single nucleotide variantLikely pathogenic, Pathogenicrs111033308GRCh37Chr 7, 107336429: 107336429
52SLC26A4NM_000441.1(SLC26A4): c.707T> C (p.Leu236Pro)single nucleotide variantPathogenicrs80338848GRCh37Chr 7, 107315496: 107315496
53SLC26A4NM_000441.1(SLC26A4): c.1246A> C (p.Thr416Pro)single nucleotide variantPathogenicrs28939086GRCh37Chr 7, 107330665: 107330665
54SLC26A4NM_000441.1(SLC26A4): c.1001+1G> Asingle nucleotide variantPathogenicrs80338849GRCh37Chr 7, 107323983: 107323983
55SLC26A4NM_000441.1(SLC26A4): c.1151A> G (p.Glu384Gly)single nucleotide variantPathogenicrs111033244GRCh37Chr 7, 107330570: 107330570
56SLC26A4NM_000441.1(SLC26A4): c.626G> T (p.Gly209Val)single nucleotide variantPathogenicrs111033303GRCh37Chr 7, 107315415: 107315415
57SLC26A4NM_000441.1(SLC26A4): c.1105A> G (p.Lys369Glu)single nucleotide variantPathogenicrs121908361GRCh37Chr 7, 107329601: 107329601
58SLC26A4NM_000441.1(SLC26A4): c.1115C> T (p.Ala372Val)single nucleotide variantPathogenicrs121908364GRCh37Chr 7, 107329611: 107329611
59SLC26A4SLC26A4, 5-BP INS, NT2111insertionPathogenic
60SLC26A4NM_000441.1(SLC26A4): c.2168A> G (p.His723Arg)single nucleotide variantPathogenicrs121908362GRCh37Chr 7, 107350577: 107350577
61SLC26A4NM_000441.1(SLC26A4): c.2162C> T (p.Thr721Met)single nucleotide variantLikely pathogenic, Pathogenicrs121908363GRCh37Chr 7, 107350571: 107350571
62SLC26A4NM_000441.1(SLC26A4): c.1334T> G (p.Leu445Trp)single nucleotide variantPathogenicrs111033307GRCh37Chr 7, 107334918: 107334918
63SLC26A4NM_000441.1(SLC26A4): c.578C> T (p.Thr193Ile)single nucleotide variantPathogenicrs111033348GRCh37Chr 7, 107314771: 107314771
64SLC26A4NM_000441.1(SLC26A4): c.412G> T (p.Val138Phe)single nucleotide variantPathogenicrs111033199GRCh37Chr 7, 107312690: 107312690
65SLC26A4NM_000441.1(SLC26A4): c.1588T> C (p.Tyr530His)single nucleotide variantLikely pathogenic, Pathogenicrs111033254GRCh37Chr 7, 107338530: 107338530
66NM_000441.1(SLC26A4): c.-103T> Csingle nucleotide variantPathogenicrs60284988GRCh37Chr 7, 107301201: 107301201
67NM_000441.1(SLC26A4): c.85G> C (p.Glu29Gln)single nucleotide variantLikely pathogenic, Pathogenicrs111033205GRCh37Chr 7, 107302171: 107302171
68SLC26A4NM_000441.1(SLC26A4): c.919-2A> Gsingle nucleotide variantPathogenicrs111033313GRCh37Chr 7, 107323898: 107323898
69SLC26A4NM_000441.1(SLC26A4): c.1540C> A (p.Gln514Lys)single nucleotide variantPathogenicrs121908366GRCh37Chr 7, 107336480: 107336480
70SLC26A4NM_000441.1(SLC26A4): c.1003T> C (p.Phe335Leu)single nucleotide variantLikely pathogenic, Pathogenicrs111033212GRCh37Chr 7, 107329499: 107329499
71KCNJ10NM_002241.4(KCNJ10): c.581C> A (p.Pro194His)single nucleotide variantPathogenicrs137853073GRCh37Chr 1, 160011742: 160011742
72KCNJ10NM_002241.4(KCNJ10): c.1042C> T (p.Arg348Cys)single nucleotide variantPathogenicrs137853074GRCh37Chr 1, 160011281: 160011281
73FOXI1NM_012188.4(FOXI1): c.773G> A (p.Gly258Glu)single nucleotide variantPathogenicrs121909340GRCh37Chr 5, 169535251: 169535251
74FOXI1NM_012188.4(FOXI1): c.800G> A (p.Arg267Gln)single nucleotide variantPathogenicrs121909341GRCh37Chr 5, 169535278: 169535278
75SLC26A4NM_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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Cellular components related to Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1vacuolar proton-transporting V-type ATPase complexGO:001647110.3ATP6V0A4, ATP6V1B1
2connexin complexGO:000592210.2GJB2, GJB3, GJB6
3gap junctionGO:00059219.7GJB2, GJB3, GJB6
4stereociliumGO:00324209.4CDH23, MYO15A
5apical plasma membraneGO:00163249.3ATP6V0A4, ATP6V1B1, GJB6, SLC26A4

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1phagosome acidificationGO:009038310.3ATP6V0A4, ATP6V1B1
2ATP hydrolysis coupled proton transportGO:001599110.2ATP6V0A4, ATP6V1B1
3cell communicationGO:000715410.1GJB3, GJB6
4regulation of pHGO:000688510.0ATP6V0A4, ATP6V1B1, SLC26A4
5transferrin transportGO:00335729.7ATP6V0A4, ATP6V1B1
6inner ear receptor cell differentiationGO:00601139.6DFNA5, POU4F3
7inner ear morphogenesisGO:00424728.6ATP6V1B1, FOXI1, MYO15A, POU4F3
8sensory perception of soundGO:00076056.5ATP6V0A4, ATP6V1B1, CDH23, DFNA5, GJB2, GJB3

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

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:00052439.9GJB2, GJB3

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet