MCID: DFN245
MIFTS: 49

Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct

Categories: Genetic diseases, Rare diseases, Ear diseases, Neuronal 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 57 13 73
Enlarged Vestibular Aqueduct 57 12 75 29 6 15
Dfnb4 57 12 75 55
Neurosensory Nonsyndromic Recessive Deafness 4 57 75
Autosomal Recessive Nonsyndromic Deafness 4 12 15
Enlarged Vestibular Aqueduct Syndrome 53 55
Nsrd4 57 75
Deafness, Autosomal Recessive, Type 4 , with Enlarged Vestibular Aqueduct 40
Autosomal Recessive Deafness 4 with Enlarged Vestibular Aqueduct 12
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4 75
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4 75
Neurosensory Nonsyndromic Recessive Deafness 4; Nsrd4 57
Deafness Neurosensory Autosomal Recessive 4 75
Enlarged Vestibular Aqueduct, Digenic 57
Large Vestibular Aqueduct Syndrome 53
Dilated Vestibular Aqueduct; Dva 57
Deafness, Autosomal Recessive, 4 75
Dilated Vestibular Aqueduct 57
Dva 57
Eva 75

Characteristics:

OMIM:

57
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:

32
deafness, autosomal recessive 4, with enlarged vestibular aqueduct:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 600791
Disease Ontology 12 DOID:0050332 DOID:0110498
ICD10 33 H90.3
MeSH 44 D006319
SNOMED-CT via HPO 69 258211005 60700002
UMLS 73 C3538946

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

OMIM : 57 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 pendred syndrome and sensorineural hearing loss. 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 thyroid, and related phenotypes are incomplete partition of the cochlea type ii and sensorineural hearing impairment

UniProtKB/Swiss-Prot : 75 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.

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22.

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 69)
# Related Disease Score Top Affiliating Genes
1 pendred syndrome 29.7 FOXI1 GJB2 KCNJ10 SLC26A2 SLC26A4 SLC26A5
2 sensorineural hearing loss 26.4 CDH23 COCH GJB2 GJB3 GJB6 MYO7A
3 nonsyndromic deafness 25.1 CDH23 COCH FOXI1 GJB2 GJB3 GJB6
4 pendred syndrome/nonsyndromic enlarged vestibular aqueduct 12.3
5 hypotrichosis-deafness syndrome 10.8 GJB2 GJB3
6 deafness, autosomal recessive 93 10.8 GJB2 GJB3
7 deafness, autosomal dominant 24 10.8 GJB2 GJB6
8 deafness, autosomal recessive 28 10.7 GJB2 GJB3
9 dyshormonogenic goiter 10.7 SLC26A2 SLC26A4
10 congenital cytomegalovirus 10.7 GJB2 GJB6
11 knuckle pads, leukonychia, and sensorineural deafness 10.7 GJB2 GJB6
12 deafness, autosomal recessive 59 10.7 GJB2 OTOF
13 deafness, autosomal dominant 36 10.7 GJB2 SLC26A4
14 deafness, x-linked 2 10.7 GJB2 GJB6
15 auditory neuropathy, autosomal dominant, 1 10.6 GJB2 OTOF
16 vohwinkel syndrome 10.6 GJB2 GJB6
17 deafness, autosomal recessive 9 10.6 GJB2 OTOF
18 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.6 GJB2 GJB3
19 kid syndrome 10.5 GJB2 GJB3 GJB6
20 pseudoainhum 10.5 GJB2 GJB3 GJB6
21 knuckle pads 10.5 GJB2 GJB3 GJB6
22 erythrokeratodermia variabilis et progressiva 1 10.5 GJB2 GJB3 GJB6
23 clouston syndrome 10.5 GJB2 GJB3 GJB6
24 deafness, autosomal recessive 3 10.4 GJB2 MYO7A
25 deafness, autosomal recessive 21 10.4 GJB2 TECTB
26 auditory neuropathy spectrum disorder 10.4 MYO7A OTOF
27 usher syndrome, type ig 10.4 CDH23 MYO7A
28 retinitis pigmentosa-deafness syndrome 10.4 CDH23 MYO7A
29 ear malformation 10.3 FOXI1 GJB2 KCNJ10 SLC26A4
30 deafness, autosomal recessive 67 10.3 GJB2 GJB3
31 peripheral vertigo 10.3 COCH SLC26A4
32 usher syndrome, type if 10.3 CDH23 MYO7A
33 achondrogenesis, type ib 10.3 SLC26A2 SLC26A4 SLC26A5
34 hodgkin's lymphoma, nodular sclerosis 10.3 GJB2 GJB3 GJB6 SLC26A4
35 diastrophic dysplasia 10.3 SLC26A2 SLC26A4 SLC26A5
36 deafness, autosomal recessive 30 10.2 GJB2 MYO7A SLC26A4
37 usher syndrome, type ic 10.2 CDH23 MYO7A
38 deafness, autosomal recessive 26 10.2 CDH23 GJB2 OTOF SLC26A4
39 deafness, autosomal recessive 1a 10.2 GJB2 GJB3 GJB6 OTOF
40 deafness, autosomal recessive 2 10.2 GJB2 MYO7A OTOF
41 autosomal recessive nonsyndromic deafness 10.2 CDH23 GJB2 OTOF SLC26A4
42 usher syndrome, type id 10.1 CDH23 MYO7A
43 deafness, autosomal recessive 12 10.1 CDH23 GJB2 MYO7A
44 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
45 deafness, autosomal recessive 10.1 GJB2 GJB3 OTOF
46 deafness, autosomal dominant 22 10.1 COCH MYO7A
47 sarcoma 10.0
48 usher syndrome 9.9 CDH23 GJB2 MYO7A
49 dfnb1 9.9 GJB2 GJB6 MYO7A OTOF
50 deafness, autosomal recessive 85 9.9 CDH23 MYO7A OTOF SLC26A4

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...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, sensorineural
vestibular abnormalities (variable)
enlarged vestibular aqueduct
cochlear malformation defect (mondini dysplasia) (less common)


Clinical features from OMIM:

600791

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

32
# Description HPO Frequency HPO Source Accession
1 incomplete partition of the cochlea type ii 32 occasional (7.5%) HP:0000376
2 sensorineural hearing impairment 32 HP:0000407
3 enlarged vestibular aqueduct 32 HP:0011387

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.9 CDH23 COCH FOXI1 GJB2 GJB6 KCNJ10
2 homeostasis/metabolism MP:0005376 9.7 CDH23 FARSA FOXI1 GJB2 GJB3 GJB6
3 nervous system MP:0003631 9.32 KCNJ10 MYO7A OTOF SLC26A4 SLC26A5 TECTB

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 29 FOXI1 KCNJ10 SLC26A4

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

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

41
Bone, Brain, Thyroid, Testes

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 98)
# Title Authors Year
1
A novel mutation in the SLC26A4 gene in a Chinese family with non-syndromic hearing loss and enlarged vestibular aqueduct. ( 29501320 )
2018
2
Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4. ( 27859305 )
2017
3
Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts. ( 28934385 )
2017
4
Enlarged vestibular aqueduct: Audiological and genetical features in children and adolescents. ( 28780189 )
2017
5
[Identification of a novel SLC26A4 mutation in a child with enlarge vestibular aqueduct syndrome]. ( 28604962 )
2017
6
Enlarged vestibular aqueducts and other inner-ear abnormalities in patients with Down syndrome. ( 28027715 )
2016
7
Identification of a novel mutation in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct syndrome. ( 27240500 )
2016
8
Novel compound heterozygous mutations in SLC26A4 gene in a Chinese Han family with enlarged vestibular aqueduct. ( 27729126 )
2016
9
Cerebrospinal Fluid Leak in Cochlear Implantation: Enlarged Cochlear versus Enlarged Vestibular Aqueduct (Common Cavity Excluded). ( 27847516 )
2016
10
SLC26A4 genotypes associated with enlarged vestibular aqueduct malformation in south Italian children with sensorineural hearing loss. ( 26894580 )
2016
11
Cochlear implantation in Pendred syndrome and non-syndromic enlarged vestibular aqueduct - clinical challenges, surgical results, and complications. ( 27241825 )
2016
12
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
13
Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct. ( 26100058 )
2015
14
Variations in the cochlear implant experience in children with enlarged vestibular aqueduct. ( 25647353 )
2015
15
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
16
Prognostic Factors for Sudden Drops in Hearing Level After Minor Head Injury in Patients With an Enlarged Vestibular Aqueduct: A Meta-analysis. ( 25406869 )
2014
17
Identification of Novel Functional Null Allele of SLC26A4 Associated with Enlarged Vestibular Aqueduct and Its Possible Implication. ( 25358692 )
2014
18
Enlarged vestibular aqueduct in congenital non-syndromic sensorineural hearing loss in egypt. ( 24533365 )
2014
19
Significance of unilateral enlarged vestibular aqueduct. ( 23401162 )
2013
20
Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China. ( 23918157 )
2013
21
Enlarged cochlear aqueducts: a potential route for CSF gushers in patients with enlarged vestibular aqueducts. ( 24232063 )
2013
22
Acoustically evoked short latency negative responses in hearing loss patients with enlarged vestibular aqueduct. ( 23055113 )
2013
23
Compound heterozygous mutations of SLC26A4 in 4 Chinese families with enlarged vestibular aqueduct. ( 23385134 )
2013
24
Correlation analysis of genotypes, auditory function, and vestibular size in Chinese children with enlarged vestibular aqueduct syndrome. ( 24245694 )
2013
25
Enlarged vestibular aqueduct syndrome mimicking otosclerosis in adults. ( 24028978 )
2013
26
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. ( 23965030 )
2013
27
Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome. ( 23705809 )
2013
28
Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss. ( 24105851 )
2013
29
Misdiagnosis of otosclerosis in a patient with enlarged vestibular aqueduct syndrome: a case report. ( 22747696 )
2012
30
Coronal CT scan measurements and hearing evolution in enlarged vestibular aqueduct syndrome. ( 22281371 )
2012
31
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
32
Bilateral enlarged vestibular aqueduct with associated bilateral Mondini's dysplasia. ( 22537762 )
2012
33
SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct. ( 22551242 )
2012
34
Enlarged vestibular aqueduct may precipitate benign paroxysmal positional vertigo in children. ( 22582772 )
2012
35
Genetic diagnosis and cochlear implantation for patients with nonsyndromic hearing loss and enlarged vestibular aqueduct. ( 22289209 )
2012
36
Characteristics of vestibular evoked myogenic potentials in children with enlarged vestibular aqueduct. ( 21132770 )
2011
37
Endolymphatic sac abscess in the setting of enlarged vestibular aqueduct syndrome. ( 21765379 )
2011
38
Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. ( 21961810 )
2011
39
Hemorrhage in the endolymphatic sac: a cause of hearing fluctuation in enlarged vestibular aqueduct. ( 21963424 )
2011
40
Identification of SLC26A4 mutations in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis. ( 21366435 )
2011
41
Enlarged vestibular aqueduct: review of controversial aspects. ( 22024854 )
2011
42
Clinical, audiometric, radiologic, and genetic profiles of Southeast Asian children with hearing loss due to enlarged vestibular aqueduct. ( 21986928 )
2011
43
Superior semicircular canal dehiscence and enlarged vestibular aqueduct. ( 21458865 )
2011
44
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct. ( 20621367 )
2010
45
Preimplantation genetic diagnosis (embryo screening) for enlarged vestibular aqueduct due to SLC26A4 mutation. ( 20160438 )
2010
46
[Diagnostic function of SLC26A4 hot spot mutations screening to enlarged vestibular aqueduct syndrome]. ( 21174747 )
2010
47
Identification of two novel mutations, c.232T>C and c.2006A>T, in SLC26A4 in a Chinese family associated with enlarged vestibular aqueduct. ( 20483489 )
2010
48
SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct. ( 19998422 )
2010
49
Cochlear implantation in children with enlarged vestibular aqueduct. ( 20641086 )
2010
50
Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome. ( 19648736 )
2010

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

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

75 (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
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 172)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC26A4 SLC26A4, 1-BP DEL, 917T deletion Pathogenic
2 SLC26A4 NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser) single nucleotide variant Pathogenic/Likely pathogenic rs111033308 GRCh37 Chromosome 7, 107336429: 107336429
3 SLC26A4 NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser) single nucleotide variant Pathogenic/Likely pathogenic rs111033308 GRCh38 Chromosome 7, 107695984: 107695984
4 SLC26A4 NM_000441.1(SLC26A4): c.707T> C (p.Leu236Pro) single nucleotide variant Pathogenic rs80338848 GRCh37 Chromosome 7, 107315496: 107315496
5 SLC26A4 NM_000441.1(SLC26A4): c.707T> C (p.Leu236Pro) single nucleotide variant Pathogenic rs80338848 GRCh38 Chromosome 7, 107675051: 107675051
6 SLC26A4 NM_000441.1(SLC26A4): c.1246A> C (p.Thr416Pro) single nucleotide variant Pathogenic rs28939086 GRCh37 Chromosome 7, 107330665: 107330665
7 SLC26A4 NM_000441.1(SLC26A4): c.1246A> C (p.Thr416Pro) single nucleotide variant Pathogenic rs28939086 GRCh38 Chromosome 7, 107690220: 107690220
8 SLC26A4 NM_000441.1(SLC26A4): c.1001+1G> A single nucleotide variant Pathogenic rs80338849 GRCh37 Chromosome 7, 107323983: 107323983
9 SLC26A4 NM_000441.1(SLC26A4): c.1001+1G> A single nucleotide variant Pathogenic rs80338849 GRCh38 Chromosome 7, 107683538: 107683538
10 SLC26A4 NM_000441.1(SLC26A4): c.1151A> G (p.Glu384Gly) single nucleotide variant Pathogenic/Likely pathogenic rs111033244 GRCh37 Chromosome 7, 107330570: 107330570
11 SLC26A4 NM_000441.1(SLC26A4): c.1151A> G (p.Glu384Gly) single nucleotide variant Pathogenic/Likely pathogenic rs111033244 GRCh38 Chromosome 7, 107690125: 107690125
12 SLC26A4 NM_000441.1(SLC26A4): c.626G> T (p.Gly209Val) single nucleotide variant Pathogenic rs111033303 GRCh37 Chromosome 7, 107315415: 107315415
13 SLC26A4 NM_000441.1(SLC26A4): c.626G> T (p.Gly209Val) single nucleotide variant Pathogenic rs111033303 GRCh38 Chromosome 7, 107674970: 107674970
14 SLC26A4 NM_000441.1(SLC26A4): c.1105A> G (p.Lys369Glu) single nucleotide variant Pathogenic rs121908361 GRCh37 Chromosome 7, 107329601: 107329601
15 SLC26A4 NM_000441.1(SLC26A4): c.1105A> G (p.Lys369Glu) single nucleotide variant Pathogenic rs121908361 GRCh38 Chromosome 7, 107689156: 107689156
16 SLC26A4 NM_000441.1(SLC26A4): c.1115C> T (p.Ala372Val) single nucleotide variant Pathogenic rs121908364 GRCh37 Chromosome 7, 107329611: 107329611
17 SLC26A4 NM_000441.1(SLC26A4): c.1115C> T (p.Ala372Val) single nucleotide variant Pathogenic rs121908364 GRCh38 Chromosome 7, 107689166: 107689166
18 SLC26A4 SLC26A4, 5-BP INS, NT2111 insertion Pathogenic
19 SLC26A4 NM_000441.1(SLC26A4): c.2168A> G (p.His723Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908362 GRCh37 Chromosome 7, 107350577: 107350577
20 SLC26A4 NM_000441.1(SLC26A4): c.2168A> G (p.His723Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908362 GRCh38 Chromosome 7, 107710132: 107710132
21 SLC26A4 NM_000441.1(SLC26A4): c.2162C> T (p.Thr721Met) single nucleotide variant Pathogenic/Likely pathogenic rs121908363 GRCh37 Chromosome 7, 107350571: 107350571
22 SLC26A4 NM_000441.1(SLC26A4): c.2162C> T (p.Thr721Met) single nucleotide variant Pathogenic/Likely pathogenic rs121908363 GRCh38 Chromosome 7, 107710126: 107710126
23 SLC26A4 NM_000441.1(SLC26A4): c.1334T> G (p.Leu445Trp) single nucleotide variant Pathogenic rs111033307 GRCh37 Chromosome 7, 107334918: 107334918
24 SLC26A4 NM_000441.1(SLC26A4): c.1334T> G (p.Leu445Trp) single nucleotide variant Pathogenic rs111033307 GRCh38 Chromosome 7, 107694473: 107694473
25 SLC26A4 NM_000441.1(SLC26A4): c.578C> T (p.Thr193Ile) single nucleotide variant Pathogenic rs111033348 GRCh37 Chromosome 7, 107314771: 107314771
26 SLC26A4 NM_000441.1(SLC26A4): c.578C> T (p.Thr193Ile) single nucleotide variant Pathogenic rs111033348 GRCh38 Chromosome 7, 107674326: 107674326
27 SLC26A4 NM_000441.1(SLC26A4): c.412G> T (p.Val138Phe) single nucleotide variant Pathogenic rs111033199 GRCh37 Chromosome 7, 107312690: 107312690
28 SLC26A4 NM_000441.1(SLC26A4): c.412G> T (p.Val138Phe) single nucleotide variant Pathogenic rs111033199 GRCh38 Chromosome 7, 107672245: 107672245
29 SLC26A4 NM_000441.1(SLC26A4): c.1588T> C (p.Tyr530His) single nucleotide variant Pathogenic/Likely pathogenic rs111033254 GRCh37 Chromosome 7, 107338530: 107338530
30 SLC26A4 NM_000441.1(SLC26A4): c.1588T> C (p.Tyr530His) single nucleotide variant Pathogenic/Likely pathogenic rs111033254 GRCh38 Chromosome 7, 107698085: 107698085
31 SLC26A4 NM_000441.1(SLC26A4): c.85G> C (p.Glu29Gln) single nucleotide variant Pathogenic/Likely pathogenic rs111033205 GRCh37 Chromosome 7, 107302171: 107302171
32 SLC26A4 NM_000441.1(SLC26A4): c.85G> C (p.Glu29Gln) single nucleotide variant Pathogenic/Likely pathogenic rs111033205 GRCh38 Chromosome 7, 107661726: 107661726
33 SLC26A4 NM_000441.1(SLC26A4): c.919-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs111033313 GRCh37 Chromosome 7, 107323898: 107323898
34 SLC26A4 NM_000441.1(SLC26A4): c.919-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs111033313 GRCh38 Chromosome 7, 107683453: 107683453
35 SLC26A4 NM_000441.1(SLC26A4): c.1540C> A (p.Gln514Lys) single nucleotide variant Pathogenic rs121908366 GRCh37 Chromosome 7, 107336480: 107336480
36 SLC26A4 NM_000441.1(SLC26A4): c.1540C> A (p.Gln514Lys) single nucleotide variant Pathogenic rs121908366 GRCh38 Chromosome 7, 107696035: 107696035
37 KCNJ10 NM_002241.4(KCNJ10): c.581C> A (p.Pro194His) single nucleotide variant Pathogenic rs137853073 GRCh37 Chromosome 1, 160011742: 160011742
38 KCNJ10 NM_002241.4(KCNJ10): c.581C> A (p.Pro194His) single nucleotide variant Pathogenic rs137853073 GRCh38 Chromosome 1, 160041952: 160041952
39 FOXI1 NM_012188.4(FOXI1): c.800G> A (p.Arg267Gln) single nucleotide variant Pathogenic rs121909341 GRCh37 Chromosome 5, 169535278: 169535278
40 FOXI1 NM_012188.4(FOXI1): c.800G> A (p.Arg267Gln) single nucleotide variant Pathogenic rs121909341 GRCh38 Chromosome 5, 170108274: 170108274
41 SLC26A4 NM_000441.1(SLC26A4): c.-3-2A> G single nucleotide variant Pathogenic rs397516411 GRCh37 Chromosome 7, 107302082: 107302082
42 SLC26A4 NM_000441.1(SLC26A4): c.-3-2A> G single nucleotide variant Pathogenic rs397516411 GRCh38 Chromosome 7, 107661637: 107661637
43 SLC26A4 NM_000441.1(SLC26A4): c.1149+3A> G single nucleotide variant Pathogenic rs111033314 GRCh37 Chromosome 7, 107329648: 107329648
44 SLC26A4 NM_000441.1(SLC26A4): c.1149+3A> G single nucleotide variant Pathogenic rs111033314 GRCh38 Chromosome 7, 107689203: 107689203
45 SLC26A4 NM_000441.1(SLC26A4): c.1198delT (p.Cys400Valfs) deletion Pathogenic/Likely pathogenic rs397516413 GRCh37 Chromosome 7, 107330617: 107330617
46 SLC26A4 NM_000441.1(SLC26A4): c.1198delT (p.Cys400Valfs) deletion Pathogenic/Likely pathogenic rs397516413 GRCh38 Chromosome 7, 107690172: 107690172
47 SLC26A4 NM_000441.1(SLC26A4): c.1226G> A (p.Arg409His) single nucleotide variant Pathogenic rs111033305 GRCh37 Chromosome 7, 107330645: 107330645
48 SLC26A4 NM_000441.1(SLC26A4): c.1226G> A (p.Arg409His) single nucleotide variant Pathogenic rs111033305 GRCh38 Chromosome 7, 107690200: 107690200
49 SLC26A4 NM_000441.1(SLC26A4): c.1226G> C (p.Arg409Pro) single nucleotide variant Likely pathogenic rs111033305 GRCh37 Chromosome 7, 107330645: 107330645
50 SLC26A4 NM_000441.1(SLC26A4): c.1226G> C (p.Arg409Pro) single nucleotide variant Likely pathogenic rs111033305 GRCh38 Chromosome 7, 107690200: 107690200

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 KCNJ10 OTOF SLC26A5 SLC26A6
2 apical plasma membrane GO:0016324 9.35 GJB6 MYO7A SLC26A2 SLC26A4 SLC26A6
3 gap junction GO:0005921 9.33 GJB2 GJB3 GJB6
4 connexin complex GO:0005922 8.8 GJB2 GJB3 GJB6
5 membrane GO:0016020 10.18 CDH23 FARSA GJB2 GJB3 GJB6 KCNJ10
6 integral component of membrane GO:0016021 10.14 CDH23 GJB2 GJB3 GJB6 KCNJ10 OTOF
7 plasma membrane GO:0005886 10.06 CDH23 GJB2 GJB3 GJB6 KCNJ10 OTOF

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.93 GJB2 GJB3 SLC26A2 SLC26A4 SLC26A5 SLC26A6
2 visual perception GO:0007601 9.84 CDH23 KCNJ10 MYO7A WFS1
3 regulation of membrane potential GO:0042391 9.77 KCNJ10 SLC26A2 SLC26A4 SLC26A5 SLC26A6
4 chloride transmembrane transport GO:1902476 9.73 SLC26A2 SLC26A4 SLC26A5 SLC26A6
5 bicarbonate transport GO:0015701 9.71 SLC26A2 SLC26A4 SLC26A5 SLC26A6
6 inner ear development GO:0048839 9.69 GJB2 GJB6 MYO7A
7 cell communication GO:0007154 9.67 GJB2 GJB3 GJB6
8 anion transmembrane transport GO:0098656 9.65 SLC26A4 SLC26A5 SLC26A6
9 regulation of intracellular pH GO:0051453 9.62 SLC26A2 SLC26A4 SLC26A5 SLC26A6
10 inner ear receptor cell stereocilium organization GO:0060122 9.56 CDH23 MYO7A
11 sulfate transport GO:0008272 9.56 SLC26A2 SLC26A4 SLC26A5 SLC26A6
12 sensory perception of light stimulus GO:0050953 9.55 CDH23 MYO7A
13 equilibrioception GO:0050957 9.52 CDH23 MYO7A
14 sulfate transmembrane transport GO:1902358 9.46 SLC26A2 SLC26A4 SLC26A5 SLC26A6
15 sensory perception of sound GO:0007605 9.28 CDH23 COCH GJB2 GJB6 MYO7A OTOF
16 oxalate transport GO:0019532 9.26 SLC26A2 SLC26A4 SLC26A5 SLC26A6

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 chloride channel activity GO:0005254 9.67 SLC26A2 SLC26A4 SLC26A5 SLC26A6
2 anion:anion antiporter activity GO:0015301 9.62 SLC26A2 SLC26A4 SLC26A5 SLC26A6
3 bicarbonate transmembrane transporter activity GO:0015106 9.56 SLC26A2 SLC26A4 SLC26A5 SLC26A6
4 spectrin binding GO:0030507 9.46 MYO7A SLC26A5
5 sulfate transmembrane transporter activity GO:0015116 9.46 SLC26A2 SLC26A4 SLC26A5 SLC26A6
6 gap junction channel activity GO:0005243 9.43 GJB2 GJB3
7 chloride transmembrane transporter activity GO:0015108 9.4 SLC26A4 SLC26A6
8 secondary active sulfate transmembrane transporter activity GO:0008271 9.26 SLC26A2 SLC26A4 SLC26A5 SLC26A6
9 oxalate transmembrane transporter activity GO:0019531 8.92 SLC26A2 SLC26A4 SLC26A5 SLC26A6

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

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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