DFNB4
MCID: DFN245
MIFTS: 52

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 57 29 13 6 70
Enlarged Vestibular Aqueduct 57 12 72 15
Dfnb4 57 12 72 54
Enlarged Vestibular Aqueduct Syndrome 20 29 54
Neurosensory Nonsyndromic Recessive Deafness 4 57 72
Autosomal Recessive Nonsyndromic Deafness 4 12 15
Enlarged Vestibular Aqueduct, Digenic 57 29
Nsrd4 57 72
Deafness, Autosomal Recessive, Type 4 , with Enlarged Vestibular Aqueduct 39
Autosomal Recessive Deafness 4 with Enlarged Vestibular Aqueduct 12
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4 72
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4 72
Neurosensory Nonsyndromic Recessive Deafness 4; Nsrd4 57
Deafness Neurosensory Autosomal Recessive 4 72
Large Vestibular Aqueduct Syndrome 20
Dilated Vestibular Aqueduct; Dva 57
Deafness, Autosomal Recessive, 4 72
Dilated Vestibular Aqueduct 57
Dva 57
Eva 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
deafness, autosomal recessive 4, with enlarged vestibular aqueduct:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050332 DOID:0110498
OMIM® 57 600791
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
SNOMED-CT via HPO 68 258211005 60700002
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct, also known as enlarged vestibular aqueduct, is related to pendred syndrome/nonsyndromic enlarged vestibular aqueduct and ear malformation. 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 thyroid, bone and heart, and related phenotypes are incomplete partition of the cochlea type ii and sensorineural hearing impairment

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

UniProtKB/Swiss-Prot : 72 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 256)
# Related Disease Score Top Affiliating Genes
1 pendred syndrome/nonsyndromic enlarged vestibular aqueduct 32.3 SLC26A4 KCNJ10 FOXI1
2 ear malformation 31.4 SLC26A4 KCNJ10 GJB2 FOXI1 EYA1
3 pendred syndrome 31.2 SLC26A5 SLC26A4-AS1 SLC26A4 POU3F4 OTOF MYO7A
4 branchiootorenal syndrome 30.8 SLC26A4 OTOF GJB6 GJB2 FOXI1 EYA1
5 labyrinthitis 30.7 SLC26A4 MYO7A GJB6 GJB2
6 otosclerosis 30.6 TMPRSS3 SLC26A4 PJVK OTOF MYO15A MT-RNR1
7 dfnb1 30.6 OTOF MYO7A GJB6 GJB3 GJB2
8 deafness, autosomal recessive 93 30.4 PJVK OTOF GJB2
9 branchiootic syndrome 1 30.4 TMC1 SLC26A4-AS1 SLC26A4 PJVK OTOF MYO7A
10 deafness, autosomal recessive 28 30.3 OTOF MYO15A
11 nonsyndromic deafness 30.2 TMPRSS3 TMC1 SLC26A4 MYO7A MYO15A GJB2
12 hereditary hearing loss and deafness 30.2 POU3F4 GJB6 GJB3 GJB2 CDH23
13 rare genetic deafness 29.8 TMPRSS3 TMC1 STRC SLC26A4-AS1 SLC26A4 POU3F4
14 autosomal recessive non-syndromic sensorineural deafness type dfnb 29.6 TMPRSS3 TMC1 STRC SLC26A5 SLC26A4-AS1 SLC26A4
15 waardenburg's syndrome 29.6 SLC26A4 POU3F4 OTOF MYO7A MYO15A MT-RNR1
16 sensorineural hearing loss 29.5 TMPRSS3 TMC1 STRC SLC26A5 SLC26A4 POU3F4
17 nonsyndromic hearing loss 29.3 TMPRSS3 TMC1 SLC26A4 POU3F4 PJVK OTOF
18 autosomal recessive nonsyndromic deafness 29.0 TMPRSS3 TMC1 STRC SLC26A5 SLC26A4-AS1 SLC26A4
19 renal tubular acidosis with deafness 11.5
20 deafness, autosomal recessive 6 10.5 PJVK CDH23
21 nonsyndromic hearing loss and deafness, dfna3 10.5 GJB6 GJB2
22 hypotrichosis-deafness syndrome 10.5 GJB3 GJB2
23 purulent labyrinthitis 10.4 GJB6 GJB2
24 viral labyrinthitis 10.4 GJB6 GJB2
25 serous labyrinthitis 10.4 SLC26A4 GJB2
26 deafness, autosomal dominant 56 10.4 SLC26A4 GJB2
27 hereditary lymphedema ic 10.4 GJB3 GJB2
28 deafness, autosomal dominant 41 10.4 SLC26A4 GJB2 CDH23
29 deafness, autosomal recessive 85 10.4 PJVK OTOF
30 congenital cytomegalovirus 10.4 MT-RNR1 GJB6 GJB2
31 usher syndrome, type ih 10.4 MYO7A CDH23
32 deafness, autosomal dominant 48 10.4 MYO7A MYO15A
33 erythrokeratoderma 10.4 GJB3 GJB2
34 deafness, autosomal recessive 3 10.4 MYO7A MYO15A GJB2
35 pseudoainhum 10.4 GJB6 GJB3 GJB2
36 nonsyndromic hearing loss and deafness, dfnb1 10.4 GJB6 GJB3 GJB2
37 deafness, autosomal dominant 3b 10.4 GJB6 GJB3 GJB2
38 deafness, autosomal recessive 91 10.4 GJB3 GJB2 CDH23
39 deafness, autosomal recessive 59 10.4 PJVK OTOF
40 deafness, autosomal dominant 2b 10.4 GJB3 GJB2
41 deafness, autosomal recessive 18a 10.4 MYO7A MYO15A CDH23
42 deafness, aminoglycoside-induced 10.4 SLC26A4 MT-RNR1 GJB2
43 deafness, autosomal recessive 27 10.4 TMC1 PJVK
44 deafness, autosomal dominant 67 10.4 OTOF GJB2
45 jervell and lange-nielsen syndrome 1 10.4 KCNJ10 GJB2 FOXI1
46 deafness, autosomal dominant 3a 10.4 GJB6 GJB3 GJB2
47 knuckle pads 10.4 GJB6 GJB3 GJB2
48 deafness, autosomal recessive 79 10.4 TMC1 MYO15A GJB2
49 peripheral vertigo 10.4 SLC26A4 MYO7A GJB2
50 deafness, autosomal dominant 20 10.4 TMC1 SLC26A4 CDH23

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:

31
# Description HPO Frequency HPO Source Accession
1 incomplete partition of the cochlea type ii 31 occasional (7.5%) HP:0000376
2 sensorineural hearing impairment 31 HP:0000407
3 enlarged vestibular aqueduct 31 HP:0011387

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 CDH23 DNAJC14 EYA1 FOXI1 GJB6 KCNJ10
2 hearing/vestibular/ear MP:0005377 9.91 CDH23 DNAJC14 EYA1 FOXI1 GJB2 GJB3
3 nervous system MP:0003631 9.53 CDH23 EYA1 FOXI1 GJB2 GJB6 KCNJ10

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Analysis of Enlarged Vestibular Aqueducts Completed NCT00023036
2 Enlarged Vestibular Aqueduct Patient Registry at University Hospitals Rainbow Babies and Children's Hospital Recruiting NCT02798783

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 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 29 FOXI1 KCNJ10 SLC26A4
2 Enlarged Vestibular Aqueduct Syndrome 29
3 Enlarged Vestibular Aqueduct, Digenic 29

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

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

40
Thyroid, Bone, Heart, Liver, Kidney, Breast

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 165)
# Title Authors PMID Year
1
Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum. 54 61 57 6
17443271 2007
2
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. 61 54 57 6
16570074 2006
3
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). 54 6 57 61
10861298 2000
4
Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. 57 6 61
19426954 2009
5
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). 6 57 61
17503324 2007
6
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. 57 6 61
11317356 2001
7
A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. 57 6
17718863 2007
8
Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. 6 57
15679828 2005
9
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. 6 57
15689455 2005
10
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. 57 6
14508505 2003
11
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. 6 57
10190331 1999
12
A mutation in PDS causes non-syndromic recessive deafness. 6 57
9500541 1998
13
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment. 54 61 6
18813951 2009
14
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss. 6 61 54
18285825 2008
15
Heterogeneity in the processing defect of SLC26A4 mutants. 61 54 6
18310264 2008
16
Pendred's syndrome and non-syndromic DFNB4 deafness associated with the homozygous T410M mutation in the SLC26A4 gene in siblings. 6 61 54
15811013 2005
17
A novel variant of SLC26A4 and first report of the c.716T>A variant in Iranian pedigrees with non-syndromic sensorineural hearing loss. 6 61
30077349 2018
18
Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects. 6 61
29739340 2018
19
The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness. 6 61
25290043 2015
20
Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. 61 6
21961810 2011
21
Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting. 61 6
21704276 2011
22
Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA). 57 61
20597900 2010
23
Two missense mutations in SLC26A4 gene: a molecular and functional study. 6 61
20128824 2010
24
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. 61 6
14679580 2004
25
[A case of enlarged vestibular aqueduct syndrome with PDS gene mutations]. 54 6
11905055 2002
26
Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. 61 57
8541853 1995
27
Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q. 57 61
8541854 1995
28
Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease-associated variants. 6
31599023 2020
29
Cochlear implantation in a 10-year old boy with Pendred syndrome and extremely enlarged endolymphatic sacs. 6
30484383 2019
30
Mutation analysis of common deafness genes among 1,201 patients with non-syndromic hearing loss in Shanxi Province. 6
30693673 2019
31
Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct. 6
30086623 2019
32
Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis. 6
30760291 2019
33
Genetics of hearing loss in the Arab population of Northern Israel. 6
30139988 2018
34
Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis. 6
29546359 2018
35
Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients. 6
29048421 2018
36
High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism. 6
30240412 2018
37
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations. 6
30622556 2018
38
Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China. 6
28786104 2017
39
A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct. 57
28780564 2017
40
Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort. 6
28964290 2017
41
A frequent oligogenic involvement in congenital hypothyroidism. 6
28444304 2017
42
[Identification of a novel SLC26A4 mutation in a child with enlarge vestibular aqueduct syndrome]. 6
28604962 2017
43
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands. 6
28000701 2017
44
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain. 6
27771369 2017
45
[Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders]. 6
29372807 2017
46
Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants. 6
26752218 2016
47
Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families. 6
27246798 2016
48
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. 6
27344577 2016
49
Atypical patterns of segregation of familial enlargement of the vestibular aqueduct. 6
26485571 2016
50
Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population. 6
26346818 2016

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

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

6 (show top 50) (show all 400)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC26A4 NM_000441.2(SLC26A4):c.1105A>G (p.Lys369Glu) SNV Pathogenic, Affects 4822 rs121908361 GRCh37: 7:107329601-107329601
GRCh38: 7:107689156-107689156
2 SLC26A4 NM_000441.2(SLC26A4):c.296C>G (p.Thr99Arg) SNV Pathogenic, Affects 417623 rs141142414 GRCh37: 7:107303872-107303872
GRCh38: 7:107663427-107663427
3 SLC26A4 NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser) SNV Affects 691506 rs984967571 GRCh37: 7:107312645-107312645
GRCh38: 7:107672200-107672200
4 SLC26A4 NM_000441.2(SLC26A4):c.392G>T (p.Gly131Val) SNV Affects 691507 rs1584304377 GRCh37: 7:107312670-107312670
GRCh38: 7:107672225-107672225
5 SLC26A4 NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr) SNV Affects 4834 rs121908365 GRCh37: 7:107312675-107312675
GRCh38: 7:107672230-107672230
6 SLC26A4 NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala) SNV Affects 556091 rs756272252 GRCh37: 7:107314609-107314609
GRCh38: 7:107674164-107674164
7 SLC26A4 NM_000441.2(SLC26A4):c.440T>C (p.Met147Thr) SNV Affects 556648 rs1554354787 GRCh37: 7:107314633-107314633
GRCh38: 7:107674188-107674188
8 SLC26A4 NM_000441.2(SLC26A4):c.487G>A (p.Val163Ile) SNV other 550607 rs200229408 GRCh37: 7:107314680-107314680
GRCh38: 7:107674235-107674235
9 SLC26A4 NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe) SNV Affects 556671 rs760040670 GRCh37: 7:107314749-107314749
GRCh38: 7:107674304-107674304
10 SLC26A4 NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn) SNV other 440275 rs138462416 GRCh37: 7:107323677-107323677
GRCh38: 7:107683232-107683232
11 SLC26A4 NM_000441.2(SLC26A4):c.919A>G (p.Thr307Ala) SNV other 691510 rs1584317852 GRCh37: 7:107323900-107323900
GRCh38: 7:107683455-107683455
12 SLC26A4 NM_000441.2(SLC26A4):c.1223C>T (p.Ser408Phe) SNV Affects 691511 rs1584325160 GRCh37: 7:107330642-107330642
GRCh38: 7:107690197-107690197
13 SLC26A4 NM_000441.2(SLC26A4):c.1262A>T (p.Gln421Leu) SNV Affects 691513 rs201660407 GRCh37: 7:107330681-107330681
GRCh38: 7:107690236-107690236
14 SLC26A4 NM_000441.2(SLC26A4):c.1277T>A (p.Ile426Asn) SNV Affects 691514 rs375540945 GRCh37: 7:107334861-107334861
GRCh38: 7:107694416-107694416
15 SLC26A4 NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys) SNV Affects 550172 rs1554359670 GRCh37: 7:107335095-107335095
GRCh38: 7:107694650-107694650
16 SLC26A4 NM_000441.2(SLC26A4):c.1409G>A (p.Arg470His) SNV other 550964 rs200779286 GRCh37: 7:107335133-107335133
GRCh38: 7:107694688-107694688
17 SLC26A4 NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) SNV Affects 43519 rs111033257 GRCh37: 7:107340607-107340607
GRCh38: 7:107700162-107700162
18 SLC26A4 NM_000441.2(SLC26A4):c.1970G>A (p.Ser657Asn) SNV Affects 691516 rs1584337228 GRCh37: 7:107342438-107342438
GRCh38: 7:107701993-107701993
19 SLC26A4 NM_000441.2(SLC26A4):c.1997C>T (p.Ser666Phe) SNV Affects 691517 rs1584337274 GRCh37: 7:107342465-107342465
GRCh38: 7:107702020-107702020
20 SLC26A4 NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser) SNV Affects 402277 rs1060499808 GRCh37: 7:107344789-107344789
GRCh38: 7:107704344-107704344
21 SLC26A4 NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) SNV Affects 43510 rs111033308 GRCh37: 7:107336429-107336429
GRCh38: 7:107695984-107695984
22 SLC26A4 NM_000441.2(SLC26A4):c.439A>G (p.Met147Val) SNV Pathogenic, Affects 691508 rs760413427 GRCh37: 7:107314632-107314632
GRCh38: 7:107674187-107674187
23 SLC26A4 NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) SNV Affects 43566 rs111033256 GRCh37: 7:107315505-107315505
GRCh38: 7:107675060-107675060
24 SLC26A4 NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) SNV Affects 4829 rs111033307 GRCh37: 7:107334918-107334918
GRCh38: 7:107694473-107694473
25 SLC26A4 NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) SNV Likely pathogenic, Affects 4830 rs111033348 GRCh37: 7:107314771-107314771
GRCh38: 7:107674326-107674326
26 SLC26A4 NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) SNV Affects 189039 rs146281367 GRCh37: 7:107323982-107323982
GRCh38: 7:107683537-107683537
27 SLC26A4 NM_000441.2(SLC26A4):c.415+2T>C SNV Pathogenic 1065211 GRCh37: 7:107312695-107312695
GRCh38: 7:107672250-107672250
28 SLC26A4 NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro) SNV Pathogenic 1065210 GRCh37: 7:107315543-107315543
GRCh38: 7:107675098-107675098
29 SLC26A4 NM_000441.2(SLC26A4):c.1264-12T>A SNV Pathogenic 1065209 GRCh37: 7:107334836-107334836
GRCh38: 7:107694391-107694391
30 SLC26A4 NM_000441.2(SLC26A4):c.2000T>C (p.Phe667Ser) SNV Pathogenic 1065208 GRCh37: 7:107342468-107342468
GRCh38: 7:107702023-107702023
31 SLC26A4 NM_000441.2(SLC26A4):c.387del (p.Phe130fs) Deletion Pathogenic 1065207 GRCh37: 7:107312665-107312665
GRCh38: 7:107672220-107672220
32 SLC26A4 NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp) SNV Pathogenic 949741 GRCh37: 7:107350576-107350576
GRCh38: 7:107710131-107710131
33 SLC26A4 NM_000441.2(SLC26A4):c.317C>A (p.Ala106Asp) SNV Pathogenic 1065204 GRCh37: 7:107312595-107312595
GRCh38: 7:107672150-107672150
34 SLC26A4 NM_000441.2(SLC26A4):c.1786C>T (p.Gln596Ter) SNV Pathogenic 1065203 GRCh37: 7:107341624-107341624
GRCh38: 7:107701179-107701179
35 SLC26A4 NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter) SNV Pathogenic 189164 rs752807925 GRCh37: 7:107344827-107344827
GRCh38: 7:107704382-107704382
36 SLC26A4 NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val) SNV Pathogenic 1065212 GRCh37: 7:107342459-107342459
GRCh38: 7:107702014-107702014
37 SLC26A4 NM_000441.2(SLC26A4):c.1299dup (p.Ala434fs) Duplication Pathogenic 1065213 GRCh37: 7:107334882-107334883
GRCh38: 7:107694437-107694438
38 SLC26A4 NM_000441.2(SLC26A4):c.601-1G>A SNV Pathogenic 446452 rs1554355011 GRCh37: 7:107315389-107315389
GRCh38: 7:107674944-107674944
39 SLC26A4 NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser) SNV Pathogenic 189160 rs786204739 GRCh37: 7:107338528-107338528
GRCh38: 7:107698083-107698083
40 SLC26A4 NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) SNV Pathogenic 43496 rs111033305 GRCh37: 7:107330645-107330645
GRCh38: 7:107690200-107690200
41 SLC26A4 NM_000441.2(SLC26A4):c.2074T>C (p.Phe692Leu) SNV Pathogenic 446462 rs1399914687 GRCh37: 7:107344815-107344815
GRCh38: 7:107704370-107704370
42 SLC26A4 NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) Deletion Pathogenic 43494 rs397516413 GRCh37: 7:107330616-107330616
GRCh38: 7:107690171-107690171
43 SLC26A4 NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) SNV Pathogenic 4830 rs111033348 GRCh37: 7:107314771-107314771
GRCh38: 7:107674326-107674326
44 SLC26A4 NM_000441.2(SLC26A4):c.919-2A>G SNV Pathogenic 4840 rs111033313 GRCh37: 7:107323898-107323898
GRCh38: 7:107683453-107683453
45 SLC26A4 NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) SNV Pathogenic 4817 rs80338848 GRCh37: 7:107315496-107315496
GRCh38: 7:107675051-107675051
46 SLC26A4 NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) SNV Pathogenic 4821 rs111033303 GRCh37: 7:107315415-107315415
GRCh38: 7:107674970-107674970
47 SLC26A4 NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) SNV Pathogenic 4830 rs111033348 GRCh37: 7:107314771-107314771
GRCh38: 7:107674326-107674326
48 SLC26A4-AS1 , SLC26A4 NM_000441.2(SLC26A4):c.-3-2A>G SNV Pathogenic 43486 rs397516411 GRCh37: 7:107302082-107302082
GRCh38: 7:107661637-107661637
49 SLC26A4 NM_000441.2(SLC26A4):c.2184_2187dup (p.Gln730fs) Microsatellite Pathogenic 1033030 GRCh37: 7:107350588-107350589
GRCh38: 7:107710143-107710144
50 SLC26A4 NM_000441.2(SLC26A4):c.1615-2A>G SNV Pathogenic 1033029 GRCh37: 7:107340526-107340526
GRCh38: 7:107700081-107700081

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

72 (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 rs155435437
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 rs155435967
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 rs156284584
30 SLC26A4 p.Val281Ile VAR_064992 rs727505080
31 SLC26A4 p.Asn558Lys VAR_064993
32 SLC26A4 p.Ala227Pro VAR_079503

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 GJB6 GJB3 GJB2

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 stereocilium tip GO:0032426 9.37 TMC1 STRC
2 gap junction GO:0005921 9.33 GJB6 GJB3 GJB2
3 astrocyte projection GO:0097449 9.32 KCNJ10 GJB2
4 stereocilium base GO:0120044 9.26 PJVK MYO7A
5 connexin complex GO:0005922 9.13 GJB6 GJB3 GJB2
6 stereocilium GO:0032420 8.92 STRC MYO7A MYO15A CDH23

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 9.97 SLC26A5 SLC26A4 GJB6 GJB3 GJB2
2 cochlea morphogenesis GO:0090103 9.58 POU3F4 EYA1
3 inner ear receptor cell stereocilium organization GO:0060122 9.58 MYO7A CDH23
4 vesicle transport along actin filament GO:0030050 9.56 MYO7A MYO15A
5 sulfate transmembrane transport GO:1902358 9.55 SLC26A5 SLC26A4
6 sulfate transport GO:0008272 9.54 SLC26A5 SLC26A4
7 auditory receptor cell stereocilium organization GO:0060088 9.52 STRC MYO7A
8 sensory perception of light stimulus GO:0050953 9.51 MYO7A CDH23
9 cell communication GO:0007154 9.5 GJB6 GJB3 GJB2
10 oxalate transport GO:0019532 9.49 SLC26A5 SLC26A4
11 equilibrioception GO:0050957 9.48 MYO7A CDH23
12 sensory perception of sound GO:0007605 9.47 TMPRSS3 TMC1 STRC SLC26A5 SLC26A4 POU3F4
13 gap junction assembly GO:0016264 9.46 GJB6 GJB2
14 inner ear morphogenesis GO:0042472 9.46 MYO7A MYO15A FOXI1 EYA1
15 cell communication by electrical coupling GO:0010644 9.43 GJB6 GJB2
16 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.43 TMC1 STRC PJVK
17 gap junction-mediated intercellular transport GO:1990349 9.4 GJB6 GJB2
18 ear morphogenesis GO:0042471 9.37 GJB6 EYA1
19 inner ear development GO:0048839 9.26 POU3F4 MYO7A GJB6 GJB2

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 actin-dependent ATPase activity GO:0030898 9.46 MYO7A MYO15A
2 anion:anion antiporter activity GO:0015301 9.43 SLC26A5 SLC26A4
3 chloride transmembrane transporter activity GO:0015108 9.4 SLC26A5 SLC26A4
4 bicarbonate transmembrane transporter activity GO:0015106 9.37 SLC26A5 SLC26A4
5 sulfate transmembrane transporter activity GO:0015116 9.32 SLC26A5 SLC26A4
6 secondary active sulfate transmembrane transporter activity GO:0008271 9.26 SLC26A5 SLC26A4
7 oxalate transmembrane transporter activity GO:0019531 9.16 SLC26A5 SLC26A4
8 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.96 GJB6 GJB2
9 gap junction channel activity GO:0005243 8.8 GJB6 GJB3 GJB2

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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