DFNB4
MCID: DFN245
MIFTS: 51

Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct (DFNB4)

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

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

MalaCards integrated aliases for Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct:

Name: Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 58 13 74
Enlarged Vestibular Aqueduct 58 12 76 30 6 15
Dfnb4 58 12 76 56
Neurosensory Nonsyndromic Recessive Deafness 4 58 76
Autosomal Recessive Nonsyndromic Deafness 4 12 15
Enlarged Vestibular Aqueduct Syndrome 54 56
Nsrd4 58 76
Deafness, Autosomal Recessive, Type 4 , with Enlarged Vestibular Aqueduct 41
Autosomal Recessive Deafness 4 with Enlarged Vestibular Aqueduct 12
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4 76
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4 76
Neurosensory Nonsyndromic Recessive Deafness 4; Nsrd4 58
Deafness Neurosensory Autosomal Recessive 4 76
Enlarged Vestibular Aqueduct, Digenic 58
Large Vestibular Aqueduct Syndrome 54
Dilated Vestibular Aqueduct; Dva 58
Deafness, Autosomal Recessive, 4 76
Dilated Vestibular Aqueduct 58
Dva 58
Eva 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
hearing loss is pre- or perilingual in onset
hearing loss ma be fluctuating or progressive
allelic to pendred syndrome, deafness with goiter


HPO:

33
deafness, autosomal recessive 4, with enlarged vestibular aqueduct:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050332 DOID:0110498
OMIM 58 600791
MeSH 45 D006319
ICD10 34 H90.3
SNOMED-CT via HPO 70 258211005 60700002
UMLS 74 C3538946

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

OMIM : 58 DFNB4 with enlarged vestibular aqueduct is characterized by pre- or perilingual onset of sensorineural or mixed hearing loss, which may be fluctuating or progressive. The hearing loss is associated with temporal bone abnormalities, most commonly enlargement of the vestibular aqueduct, but it can also include the more severe Mondini dysplasia, a complex malformation in which the normal cochlear spiral of 2.5 turns is replaced by a hypoplastic coil of 1.5 turns (summary by Campbell et al., 2001 and Pryor et al., 2005). Enlarged vestibular aqueduct is the most common form of inner ear abnormality and can be associated with disequilibrium symptoms in a minority of patients (Valvassori, 1983; Jackler and de la Cruz, 1989; Levenson et al., 1989; Arcand et al., 1991; Belenky et al., 1993; Okumura et al., 1995). (600791)

MalaCards based summary : Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct, also known as enlarged vestibular aqueduct, is related to deafness, autosomal recessive 93 and deafness, autosomal recessive 28. 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/superpathways is Gap junction trafficking. Affiliated tissues include bone, brain and testes, and related phenotypes are incomplete partition of the cochlea type ii and sensorineural hearing impairment

Disease Ontology : 12 A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts.

UniProtKB/Swiss-Prot : 76 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...

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 114)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 93 30.6 GJB2 GJB3
2 deafness, autosomal recessive 28 30.6 GJB2 GJB3
3 congenital cytomegalovirus 30.5 GJB2 GJB6
4 pendred syndrome 30.2 FOXI1 GJB2 KCNJ10 SLC26A2 SLC26A4 SLC26A5
5 nonsyndromic deafness 28.0 CDH23 COCH FOXI1 GJB2 GJB3 GJB6
6 sensorineural hearing loss 27.3 ATP6V1B1 CDH23 COCH GJB2 GJB3 GJB6
7 pendred syndrome/nonsyndromic enlarged vestibular aqueduct 12.5
8 hypotrichosis-deafness syndrome 10.4 GJB2 GJB3
9 deafness, autosomal dominant 24 10.4 GJB2 GJB6
10 deafness, autosomal recessive 9 10.3 GJB2 OTOF
11 knuckle pads, leukonychia, and sensorineural deafness 10.3 GJB2 GJB6
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
13 dyshormonogenic goiter 10.3 SLC26A2 SLC26A4
14 deafness, autosomal recessive 59 10.3 GJB2 OTOF
15 deafness, x-linked 2 10.3 GJB2 GJB6
16 deafness, autosomal dominant 36 10.3 GJB2 SLC26A4
17 mondini dysplasia 10.3
18 deafness, autosomal recessive 3 10.3 GJB2 MYO7A
19 vohwinkel syndrome 10.3 GJB2 GJB6
20 auditory neuropathy, autosomal dominant, 1 10.3 GJB2 OTOF
21 drug-induced hearing loss 10.3 GJB2 GJB3 SLC26A4
22 auditory neuropathy spectrum disorder 10.3 MYO7A OTOF
23 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.2 GJB2 GJB3
24 kid syndrome 10.2 GJB2 GJB3 GJB6
25 pseudoainhum 10.2 GJB2 GJB3 GJB6
26 knuckle pads 10.2 GJB2 GJB3 GJB6
27 erythrokeratodermia variabilis et progressiva 1 10.2 GJB2 GJB3 GJB6
28 vertigo, benign recurrent 10.2
29 otosclerosis 10.2
30 benign paroxysmal positional nystagmus 10.2
31 pathologic nystagmus 10.2
32 retinitis pigmentosa-deafness syndrome 10.2 CDH23 MYO7A
33 clouston syndrome 10.2 GJB2 GJB3 GJB6
34 usher syndrome, type ig 10.2 CDH23 MYO7A
35 sudden sensorineural hearing loss 10.2
36 usher syndrome, type if 10.2 CDH23 MYO7A
37 deafness, autosomal recessive 30 10.2 GJB2 MYO7A SLC26A4
38 deafness, autosomal recessive 2 10.2 GJB2 MYO7A OTOF
39 deafness, autosomal dominant 23 10.1 COCH EYA1
40 deafness, autosomal dominant 48 10.1 EYA1 MYO7A
41 ischemic heart disease 10.1
42 heart disease 10.1
43 hodgkin's lymphoma, nodular sclerosis 10.1 GJB2 GJB3 GJB6 SLC26A4
44 deafness, autosomal recessive 12 10.1 CDH23 GJB2 MYO7A
45 usher syndrome, type id 10.1 CDH23 MYO7A
46 peripheral vertigo 10.1 COCH SLC26A4
47 deafness, autosomal recessive 67 10.1 GJB2 GJB3
48 achondrogenesis, type ib 10.1 SLC26A2 SLC26A4 SLC26A5
49 down syndrome 10.1
50 metabolic acidosis 10.1

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 & Phenotypes for Deafness, Autosomal Recessive 4, with Enlarged Vestibular...

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

33
# Description HPO Frequency HPO Source Accession
1 incomplete partition of the cochlea type ii 33 occasional (7.5%) HP:0000376
2 sensorineural hearing impairment 33 HP:0000407
3 enlarged vestibular aqueduct 33 HP:0011387

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
enlarged vestibular aqueduct
hearing loss, sensorineural
vestibular abnormalities (variable)
cochlear malformation defect (mondini dysplasia) (less common)

Clinical features from OMIM:

600791

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 10.03 ATP6V1B1 CDH23 COCH EYA1 FOXI1 GJB2
2 behavior/neurological MP:0005386 10.02 ATP6V1B1 CDH23 EYA1 FOXI1 GJB6 KCNJ10
3 homeostasis/metabolism MP:0005376 9.93 ATP6V1B1 CDH23 EYA1 FARSA FOXI1 GJB2
4 nervous system MP:0003631 9.7 ATP6V1B1 CDH23 EYA1 FOXI1 GJB2 GJB6
5 skeleton MP:0005390 9.17 ATP6V1B1 EYA1 FARSA FOXI1 GJB2 SLC26A2

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Enlarged Vestibular Aqueduct Registry Recruiting NCT02798783
2 Clinical and Genetic Analysis of Enlarged Vestibular Aqueducts Recruiting NCT00023036

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

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

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

# Genetic test Affiliating Genes
1 Enlarged Vestibular Aqueduct 30

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

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

42
Bone, Brain, Testes, Thyroid

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

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

(show top 50) (show all 119)
# Title Authors Year
1
The Natural History of Hearing Loss in Pendred Syndrome and Non-Syndromic Enlarged Vestibular Aqueduct. ( 30741891 )
2019
2
Audiometric findings in children with unilateral enlarged vestibular aqueduct. ( 30753978 )
2019
3
3D-real IR MRI detects serendipity of inner ear in enlarged vestibular aqueduct syndrome. ( 30882266 )
2019
4
A novel mutation in the SLC26A4 gene in a Chinese family with non-syndromic hearing loss and enlarged vestibular aqueduct. ( 29501320 )
2018
5
Enlarged Vestibular Aqueduct and Cochlear Implants: The Effect of Early Counseling on the Length of Time Between Candidacy and Implantation. ( 29315182 )
2018
6
Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria. ( 29320412 )
2018
7
Should children with an enlarged vestibular aqueduct be restricted from playing contact sports? ( 29481706 )
2018
8
Vestibular Manifestations in Subjects With Enlarged Vestibular Aqueduct. ( 29664869 )
2018
9
Another evidence for pressure transfer mechanism in incomplete partition two anomaly via enlarged vestibular aqueduct. ( 29969078 )
2018
10
Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct. ( 30086623 )
2018
11
Morphology and cochlear implantation in enlarged vestibular aqueduct. ( 30153950 )
2018
12
Targeted Next-Generation Sequencing Facilitates Genetic Diagnosis and Provides Novel Pathogenetic Insights into Deafness with Enlarged Vestibular Aqueduct. ( 30268946 )
2018
13
Novel compound heterozygous mutations in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct. ( 30473558 )
2018
14
Hearing loss in unilateral and bilateral enlarged vestibular aqueduct syndrome. ( 30634102 )
2018
15
Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4. ( 27859305 )
2017
16
Enlarged vestibular aqueduct: Audiological and genetical features in children and adolescents. ( 28780189 )
2017
17
Discrepancies between video head impulse and caloric tests in patients with enlarged vestibular aqueduct. ( 27374754 )
2017
18
A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct. ( 27384033 )
2017
19
Morphometric Study of the Vestibular Aqueduct in Patients With Enlarged Vestibular Aqueduct. ( 27879529 )
2017
20
Cochlear implantation in patients with enlarged vestibular aqueduct. A case series with literature review. ( 28120638 )
2017
21
Vestibular Aqueduct Midpoint Width and Hearing Loss in Patients With an Enlarged Vestibular Aqueduct. ( 28334328 )
2017
22
A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct. ( 28576516 )
2017
23
Unilateral Enlarged Vestibular Aqueduct Syndrome and Bilateral Endolymphatic Hydrops. ( 28607789 )
2017
24
Enlarged Vestibular Aqueduct Syndrome: Sudden Hearing Loss in a Child with a Cerebral Shunt. ( 28678056 )
2017
25
Position of the Internal Aperture of Vestibular Aqueduct in Patients With Enlarged Vestibular Aqueduct. ( 28708794 )
2017
26
Hearing loss in enlarged vestibular aqueduct and incomplete partition type II. ( 28793961 )
2017
27
Identification of a novel mutation in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct syndrome. ( 27240500 )
2016
28
Novel compound heterozygous mutations in SLC26A4 gene in a Chinese Han family with enlarged vestibular aqueduct. ( 27729126 )
2016
29
Cerebrospinal Fluid Leak in Cochlear Implantation: Enlarged Cochlear versus Enlarged Vestibular Aqueduct (Common Cavity Excluded). ( 27847516 )
2016
30
SLC26A4 genotypes associated with enlarged vestibular aqueduct malformation in south Italian children with sensorineural hearing loss. ( 26894580 )
2016
31
Cochlear implantation in Pendred syndrome and non-syndromic enlarged vestibular aqueduct - clinical challenges, surgical results, and complications. ( 27241825 )
2016
32
Lateral Semicircular Canal-enlarged Vestibular Aqueduct Fistula Associated With Paroxysmal Positional Nystagmus. ( 25973841 )
2016
33
Correlation of vestibular aqueduct size with air-bone gap in enlarged vestibular aqueduct syndrome. ( 26372147 )
2016
34
Bilateral Sequential Cochlear Implantation in Patients With Enlarged Vestibular Aqueduct (EVA) Syndrome. ( 26756161 )
2016
35
Vestibular pathology in children with enlarged vestibular aqueduct. ( 26864825 )
2016
36
A New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing. ( 27997596 )
2016
37
A 7666-bp genomic deletion is frequent in Chinese Han deaf patients with non-syndromic enlarged vestibular aqueduct but without bi-allelic SLC26A4 mutations. ( 26549381 )
2015
38
Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct. ( 26100058 )
2015
39
Variations in the cochlear implant experience in children with enlarged vestibular aqueduct. ( 25647353 )
2015
40
Vestibular Dysfunction in Patients with Enlarged Vestibular Aqueduct. ( 25968061 )
2015
41
Progressive Hearing Loss and Head Trauma in Enlarged Vestibular Aqueduct: A Systematic Review and Meta-analysis. ( 26204902 )
2015
42
Nystagmus in Enlarged Vestibular Aqueduct: A Case Series. ( 26557362 )
2015
43
SLC26A4 p.Thr410Met homozygous mutation in a patient with a cystic cochlea and an enlarged vestibular aqueduct showing characteristic features of incomplete partition type I and II. ( 25468468 )
2014
44
Prognostic Factors for Sudden Drops in Hearing Level After Minor Head Injury in Patients With an Enlarged Vestibular Aqueduct: A Meta-analysis. ( 25406869 )
2014
45
Identification of Novel Functional Null Allele of SLC26A4 Associated with Enlarged Vestibular Aqueduct and Its Possible Implication. ( 25358692 )
2014
46
Enlarged vestibular aqueduct in congenital non-syndromic sensorineural hearing loss in egypt. ( 24533365 )
2014
47
Significance of unilateral enlarged vestibular aqueduct. ( 23401162 )
2013
48
Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China. ( 23918157 )
2013
49
Acoustically evoked short latency negative responses in hearing loss patients with enlarged vestibular aqueduct. ( 23055113 )
2013
50
Compound heterozygous mutations of SLC26A4 in 4 Chinese families with enlarged vestibular aqueduct. ( 23385134 )
2013

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

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct:

76 (show all 32)
# Symbol AA change Variation ID SNP ID
1 SLC26A4 p.Gly209Val VAR_007440 rs111033303
2 SLC26A4 p.Leu236Pro VAR_007441 rs80338848
3 SLC26A4 p.Lys369Glu VAR_007442 rs121908361
4 SLC26A4 p.Ala372Val VAR_007443 rs121908364
5 SLC26A4 p.Thr416Pro VAR_007445 rs28939086
6 SLC26A4 p.Gly497Ser VAR_007446 rs111033308
7 SLC26A4 p.Thr721Met VAR_007448 rs121908363
8 SLC26A4 p.His723Arg VAR_007449 rs121908362
9 SLC26A4 p.Ser28Arg VAR_021639 rs539699299
10 SLC26A4 p.Ser90Leu VAR_021642 rs370588279
11 SLC26A4 p.Leu117Phe VAR_021647 rs145254330
12 SLC26A4 p.Thr132Ile VAR_021648
13 SLC26A4 p.Val239Asp VAR_021653 rs111033256
14 SLC26A4 p.Ser252Pro VAR_021654 rs131542254
15 SLC26A4 p.Phe335Leu VAR_021656 rs111033212
16 SLC26A4 p.Asn392Tyr VAR_021658 rs201562855
17 SLC26A4 p.Arg409Pro VAR_021660 rs111033305
18 SLC26A4 p.Thr410Met VAR_021661 rs111033220
19 SLC26A4 p.Gln446Arg VAR_021665 rs768471577
20 SLC26A4 p.Asn457Lys VAR_021667
21 SLC26A4 p.Ile490Leu VAR_021669 rs200511789
22 SLC26A4 p.Tyr556Cys VAR_021672 rs763006761
23 SLC26A4 p.Leu676Gln VAR_021678 rs111033318
24 SLC26A4 p.Pro123Ser VAR_027238 rs984967571
25 SLC26A4 p.Met147Val VAR_027239 rs760413427
26 SLC26A4 p.Tyr530Ser VAR_027242 rs747636919
27 SLC26A4 p.Ser666Phe VAR_027244
28 SLC26A4 p.Val402Met VAR_058580 rs397516414
29 SLC26A4 p.Met775Thr VAR_058581
30 SLC26A4 p.Val281Ile VAR_064992 rs727505080
31 SLC26A4 p.Asn558Lys VAR_064993
32 SLC26A4 p.Ala227Pro VAR_079503

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

6 (show top 50) (show all 192)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC26A4 NM_000441.1(SLC26A4): c.-4+5G> A single nucleotide variant Likely pathogenic rs727503425 GRCh37 Chromosome 7, 107301305: 107301305
2 SLC26A4 NM_000441.1(SLC26A4): c.-4+5G> A single nucleotide variant Likely pathogenic rs727503425 GRCh38 Chromosome 7, 107660860: 107660860
3 SLC26A4 NM_000441.1(SLC26A4): c.1707+6T> C single nucleotide variant Likely pathogenic rs727505230 GRCh37 Chromosome 7, 107340626: 107340626
4 SLC26A4 NM_000441.1(SLC26A4): c.1707+6T> C single nucleotide variant Likely pathogenic rs727505230 GRCh38 Chromosome 7, 107700181: 107700181
5 SLC26A4 NM_000441.1(SLC26A4): c.2089+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727503430 GRCh37 Chromosome 7, 107344831: 107344831
6 SLC26A4 NM_000441.1(SLC26A4): c.2089+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727503430 GRCh38 Chromosome 7, 107704386: 107704386
7 SLC26A4 NM_000441.1(SLC26A4): c.2215C> T (p.Gln739Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727503431 GRCh37 Chromosome 7, 107350624: 107350624
8 SLC26A4 NM_000441.1(SLC26A4): c.2215C> T (p.Gln739Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727503431 GRCh38 Chromosome 7, 107710179: 107710179
9 SLC26A4 NM_000441.1(SLC26A4): c.1554G> A (p.Trp518Ter) single nucleotide variant Pathogenic rs727503428 GRCh37 Chromosome 7, 107338496: 107338496
10 SLC26A4 NM_000441.1(SLC26A4): c.1554G> A (p.Trp518Ter) single nucleotide variant Pathogenic rs727503428 GRCh38 Chromosome 7, 107698051: 107698051
11 SLC26A4 NM_000441.1(SLC26A4): c.1614+1G> C single nucleotide variant Pathogenic rs111033312 GRCh38 Chromosome 7, 107698112: 107698112
12 SLC26A4 NM_000441.1(SLC26A4): c.1614+1G> C single nucleotide variant Pathogenic rs111033312 GRCh37 Chromosome 7, 107338557: 107338557
13 SLC26A4 NM_000441.1(SLC26A4): c.235C> T (p.Arg79Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs786204581 GRCh38 Chromosome 7, 107663366: 107663366
14 SLC26A4 NM_000441.1(SLC26A4): c.235C> T (p.Arg79Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs786204581 GRCh37 Chromosome 7, 107303811: 107303811
15 SLC26A4 NM_000441.1(SLC26A4): c.554G> C (p.Arg185Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs542620119 GRCh37 Chromosome 7, 107314747: 107314747
16 SLC26A4 NM_000441.1(SLC26A4): c.554G> C (p.Arg185Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs542620119 GRCh38 Chromosome 7, 107674302: 107674302
17 SLC26A4 NM_000441.1(SLC26A4): c.1586T> G (p.Ile529Ser) single nucleotide variant Pathogenic/Likely pathogenic rs786204739 GRCh37 Chromosome 7, 107338528: 107338528
18 SLC26A4 NM_000441.1(SLC26A4): c.1586T> G (p.Ile529Ser) single nucleotide variant Pathogenic/Likely pathogenic rs786204739 GRCh38 Chromosome 7, 107698083: 107698083
19 SLC26A4 NM_000441.1(SLC26A4): c.1975G> C (p.Val659Leu) single nucleotide variant Pathogenic/Likely pathogenic rs200455203 GRCh38 Chromosome 7, 107701998: 107701998
20 SLC26A4 NM_000441.1(SLC26A4): c.1975G> C (p.Val659Leu) single nucleotide variant Pathogenic/Likely pathogenic rs200455203 GRCh37 Chromosome 7, 107342443: 107342443
21 KCNJ10 NM_002241.4(KCNJ10): c.301C> A (p.Pro101Thr) single nucleotide variant Uncertain significance rs375361490 GRCh37 Chromosome 1, 160012022: 160012022
22 KCNJ10 NM_002241.4(KCNJ10): c.301C> A (p.Pro101Thr) single nucleotide variant Uncertain significance rs375361490 GRCh38 Chromosome 1, 160042232: 160042232
23 SLC26A4 SLC26A4, 1-BP DEL, 917T deletion Pathogenic
24 SLC26A4 NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser) single nucleotide variant Pathogenic/Likely pathogenic rs111033308 GRCh37 Chromosome 7, 107336429: 107336429
25 SLC26A4 NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser) single nucleotide variant Pathogenic/Likely pathogenic rs111033308 GRCh38 Chromosome 7, 107695984: 107695984
26 SLC26A4 NM_000441.1(SLC26A4): c.707T> C (p.Leu236Pro) single nucleotide variant Pathogenic rs80338848 GRCh37 Chromosome 7, 107315496: 107315496
27 SLC26A4 NM_000441.1(SLC26A4): c.707T> C (p.Leu236Pro) single nucleotide variant Pathogenic rs80338848 GRCh38 Chromosome 7, 107675051: 107675051
28 SLC26A4 NM_000441.1(SLC26A4): c.1246A> C (p.Thr416Pro) single nucleotide variant Pathogenic rs28939086 GRCh37 Chromosome 7, 107330665: 107330665
29 SLC26A4 NM_000441.1(SLC26A4): c.1246A> C (p.Thr416Pro) single nucleotide variant Pathogenic rs28939086 GRCh38 Chromosome 7, 107690220: 107690220
30 SLC26A4 NM_000441.1(SLC26A4): c.1001+1G> A single nucleotide variant Pathogenic rs80338849 GRCh37 Chromosome 7, 107323983: 107323983
31 SLC26A4 NM_000441.1(SLC26A4): c.1001+1G> A single nucleotide variant Pathogenic rs80338849 GRCh38 Chromosome 7, 107683538: 107683538
32 SLC26A4 NM_000441.1(SLC26A4): c.1151A> G (p.Glu384Gly) single nucleotide variant Pathogenic/Likely pathogenic rs111033244 GRCh37 Chromosome 7, 107330570: 107330570
33 SLC26A4 NM_000441.1(SLC26A4): c.1151A> G (p.Glu384Gly) single nucleotide variant Pathogenic/Likely pathogenic rs111033244 GRCh38 Chromosome 7, 107690125: 107690125
34 SLC26A4 NM_000441.1(SLC26A4): c.626G> T (p.Gly209Val) single nucleotide variant Pathogenic rs111033303 GRCh37 Chromosome 7, 107315415: 107315415
35 SLC26A4 NM_000441.1(SLC26A4): c.626G> T (p.Gly209Val) single nucleotide variant Pathogenic rs111033303 GRCh38 Chromosome 7, 107674970: 107674970
36 SLC26A4 NM_000441.1(SLC26A4): c.1105A> G (p.Lys369Glu) single nucleotide variant Pathogenic rs121908361 GRCh37 Chromosome 7, 107329601: 107329601
37 SLC26A4 NM_000441.1(SLC26A4): c.1105A> G (p.Lys369Glu) single nucleotide variant Pathogenic rs121908361 GRCh38 Chromosome 7, 107689156: 107689156
38 SLC26A4 NM_000441.1(SLC26A4): c.1115C> T (p.Ala372Val) single nucleotide variant Pathogenic rs121908364 GRCh37 Chromosome 7, 107329611: 107329611
39 SLC26A4 NM_000441.1(SLC26A4): c.1115C> T (p.Ala372Val) single nucleotide variant Pathogenic rs121908364 GRCh38 Chromosome 7, 107689166: 107689166
40 SLC26A4 SLC26A4, 5-BP INS, NT2111 insertion Pathogenic
41 SLC26A4 NM_000441.1(SLC26A4): c.2168A> G (p.His723Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908362 GRCh37 Chromosome 7, 107350577: 107350577
42 SLC26A4 NM_000441.1(SLC26A4): c.2168A> G (p.His723Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908362 GRCh38 Chromosome 7, 107710132: 107710132
43 SLC26A4 NM_000441.1(SLC26A4): c.2162C> T (p.Thr721Met) single nucleotide variant Pathogenic/Likely pathogenic rs121908363 GRCh37 Chromosome 7, 107350571: 107350571
44 SLC26A4 NM_000441.1(SLC26A4): c.2162C> T (p.Thr721Met) single nucleotide variant Pathogenic/Likely pathogenic rs121908363 GRCh38 Chromosome 7, 107710126: 107710126
45 SLC26A4 NM_000441.1(SLC26A4): c.1334T> G (p.Leu445Trp) single nucleotide variant Pathogenic rs111033307 GRCh37 Chromosome 7, 107334918: 107334918
46 SLC26A4 NM_000441.1(SLC26A4): c.1334T> G (p.Leu445Trp) single nucleotide variant Pathogenic rs111033307 GRCh38 Chromosome 7, 107694473: 107694473
47 SLC26A4 NM_000441.1(SLC26A4): c.578C> T (p.Thr193Ile) single nucleotide variant Likely pathogenic rs111033348 GRCh37 Chromosome 7, 107314771: 107314771
48 SLC26A4 NM_000441.1(SLC26A4): c.578C> T (p.Thr193Ile) single nucleotide variant Likely pathogenic rs111033348 GRCh38 Chromosome 7, 107674326: 107674326
49 SLC26A4 NM_000441.1(SLC26A4): c.412G> T (p.Val138Phe) single nucleotide variant Pathogenic rs111033199 GRCh37 Chromosome 7, 107312690: 107312690
50 SLC26A4 NM_000441.1(SLC26A4): c.412G> T (p.Val138Phe) single nucleotide variant Pathogenic rs111033199 GRCh38 Chromosome 7, 107672245: 107672245

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

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

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.79 GJB2 GJB3 GJB6

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

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

# Name GO ID Score Top Affiliating Genes
1 basolateral plasma membrane GO:0016323 9.56 ATP6V1B1 KCNJ10 OTOF SLC26A5
2 lateral plasma membrane GO:0016328 9.5 ATP6V1B1 GJB2 SLC26A5
3 apical plasma membrane GO:0016324 9.35 ATP6V1B1 GJB6 MYO7A SLC26A2 SLC26A4
4 gap junction GO:0005921 9.33 GJB2 GJB3 GJB6
5 connexin complex GO:0005922 8.8 GJB2 GJB3 GJB6

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.92 GJB2 GJB3 SLC26A2 SLC26A4 SLC26A5
2 visual perception GO:0007601 9.81 CDH23 KCNJ10 MYO7A WFS1
3 chloride transmembrane transport GO:1902476 9.71 SLC26A2 SLC26A4 SLC26A5
4 inner ear development GO:0048839 9.63 GJB2 GJB6 MYO7A
5 cell communication GO:0007154 9.61 GJB2 GJB3 GJB6
6 anion transmembrane transport GO:0098656 9.58 SLC26A4 SLC26A5
7 calcium ion homeostasis GO:0055074 9.58 ATP6V1B1 WFS1
8 bicarbonate transport GO:0015701 9.58 SLC26A2 SLC26A4 SLC26A5
9 inner ear receptor cell stereocilium organization GO:0060122 9.57 CDH23 MYO7A
10 regulation of pH GO:0006885 9.56 ATP6V1B1 SLC26A4
11 sensory perception of light stimulus GO:0050953 9.55 CDH23 MYO7A
12 sulfate transport GO:0008272 9.5 SLC26A2 SLC26A4 SLC26A5
13 ear morphogenesis GO:0042471 9.49 EYA1 GJB6
14 equilibrioception GO:0050957 9.48 CDH23 MYO7A
15 inner ear morphogenesis GO:0042472 9.46 ATP6V1B1 EYA1 FOXI1 MYO7A
16 sulfate transmembrane transport GO:1902358 9.43 SLC26A2 SLC26A4 SLC26A5
17 regulation of membrane potential GO:0042391 9.37 KCNJ10 SLC26A5
18 sensory perception of sound GO:0007605 9.36 ATP6V1B1 CDH23 COCH EYA1 GJB2 GJB6
19 oxalate transport GO:0019532 9.13 SLC26A2 SLC26A4 SLC26A5

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

# Name GO ID Score Top Affiliating Genes
1 anion:anion antiporter activity GO:0015301 9.54 SLC26A2 SLC26A4 SLC26A5
2 sulfate transmembrane transporter activity GO:0015116 9.5 SLC26A2 SLC26A4 SLC26A5
3 spectrin binding GO:0030507 9.43 MYO7A SLC26A5
4 bicarbonate transmembrane transporter activity GO:0015106 9.43 SLC26A2 SLC26A4 SLC26A5
5 gap junction channel activity GO:0005243 9.4 GJB2 GJB3
6 chloride transmembrane transporter activity GO:0015108 9.33 SLC26A2 SLC26A4 SLC26A5
7 secondary active sulfate transmembrane transporter activity GO:0008271 9.13 SLC26A2 SLC26A4 SLC26A5
8 oxalate transmembrane transporter activity GO:0019531 8.8 SLC26A2 SLC26A4 SLC26A5

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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65 QIAGEN
70 SNOMED-CT via HPO
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73 Tocris
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75 UMLS via Orphanet
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