MCID: DFN001
MIFTS: 14

Dfna2 Nonsyndromic Hearing Loss

Aliases & Classifications for Dfna2 Nonsyndromic Hearing Loss

MalaCards integrated aliases for Dfna2 Nonsyndromic Hearing Loss:

Name: Dfna2 Nonsyndromic Hearing Loss 24
Dfna 2 Nonsyndromic Hearing Loss 29 6

Characteristics:

GeneReviews:

24
Penetrance The penetrance is complete. all individuals with a heterozygous kcnq4 pathogenic variant exhibit the hearing loss phenotype; onset age and severity are variable.

Summaries for Dfna2 Nonsyndromic Hearing Loss

MalaCards based summary : Dfna2 Nonsyndromic Hearing Loss, also known as dfna 2 nonsyndromic hearing loss, is related to deafness, autosomal dominant 2a and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Dfna2 Nonsyndromic Hearing Loss is KCNQ4 (Potassium Voltage-Gated Channel Subfamily Q Member 4). Affiliated tissues include testes.

GeneReviews: NBK1209

Related Diseases for Dfna2 Nonsyndromic Hearing Loss

Diseases related to Dfna2 Nonsyndromic Hearing Loss via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 2a 10.3
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
3 nonsyndromic deafness 10.3
4 sensorineural hearing loss 10.3
5 autosomal dominant non-syndromic sensorineural deafness type dfna 10.3

Graphical network of the top 20 diseases related to Dfna2 Nonsyndromic Hearing Loss:



Diseases related to Dfna2 Nonsyndromic Hearing Loss

Symptoms & Phenotypes for Dfna2 Nonsyndromic Hearing Loss

Drugs & Therapeutics for Dfna2 Nonsyndromic Hearing Loss

Search Clinical Trials , NIH Clinical Center for Dfna2 Nonsyndromic Hearing Loss

Genetic Tests for Dfna2 Nonsyndromic Hearing Loss

Genetic tests related to Dfna2 Nonsyndromic Hearing Loss:

# Genetic test Affiliating Genes
1 Dfna 2 Nonsyndromic Hearing Loss 29 KCNQ4

Anatomical Context for Dfna2 Nonsyndromic Hearing Loss

MalaCards organs/tissues related to Dfna2 Nonsyndromic Hearing Loss:

41
Testes

Publications for Dfna2 Nonsyndromic Hearing Loss

Articles related to Dfna2 Nonsyndromic Hearing Loss:

(show all 19)
# Title Authors PMID Year
1
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 4
26969326 2016
2
Timing, rates and spectra of human germline mutation. 4
26656846 2016
3
A Japanese family showing high-frequency hearing loss with KCNQ4 and TECTA mutations. 4
24655070 2014
4
Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss. 4
25116015 2014
5
Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan. 4
17033161 2007
6
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation. 4
16596322 2006
7
Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S). 4
15699719 2005
8
A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment. 4
12112653 2002
9
Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family. 4
11915881 2002
10
DFNA2/KCNQ4 and its manifestations. 4
12408061 2002
11
Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese. 4
11450843 2001
12
Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region. 4
10925378 2000
13
A Dutch family with progressive sensorineural hearing impairment linked to the DFNA2 region. 4
10784363 2000
14
Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. 4
10369879 1999
15
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. 4
10025409 1999
16
Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss. 4
10571947 1999
17
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. 4
9843210 1998
18
Inherited nonsyndromic hearing loss. An audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2. 4
9193215 1997
19
DFNA2 Nonsyndromic Hearing Loss 38
20301388 2008

Variations for Dfna2 Nonsyndromic Hearing Loss

ClinVar genetic disease variations for Dfna2 Nonsyndromic Hearing Loss:

6 (show all 34)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KCNQ4 NM_004700.4(KCNQ4): c.886G> A (p.Gly296Ser) single nucleotide variant Pathogenic rs80358279 1:41285598-41285598 1:40819926-40819926
2 KCNQ4 NM_004700.4(KCNQ4): c.853G> A (p.Gly285Ser) single nucleotide variant Pathogenic rs28937588 1:41285565-41285565 1:40819893-40819893
3 KCNQ4 NM_004700.4(KCNQ4): c.827G> C (p.Trp276Ser) single nucleotide variant Pathogenic rs80358277 1:41285137-41285137 1:40819465-40819465
4 KCNQ4 NM_004700.4(KCNQ4): c.853G> T (p.Gly285Cys) single nucleotide variant Pathogenic rs28937588 1:41285565-41285565 1:40819893-40819893
5 KCNQ4 NM_004700.4(KCNQ4): c.212_224del (p.Gln71fs) deletion Pathogenic rs80358271 1:41249976-41249988 1:40784304-40784316
6 KCNQ4 NM_004700.4(KCNQ4): c.842T> C (p.Leu281Ser) single nucleotide variant Pathogenic rs80358278 1:41285554-41285554 1:40819882-40819882
7 KCNQ4 NM_004700.4(KCNQ4): c.821T> A (p.Leu274His) single nucleotide variant Pathogenic rs80358276 1:41285131-41285131 1:40819459-40819459
8 KCNQ4 NM_004700.4(KCNQ4): c.211del (p.Gln71fs) deletion Pathogenic rs80358272 1:41249976-41249976 1:40784304-40784304
9 KCNQ4 NM_004700.4(KCNQ4): c.778G> A (p.Glu260Lys) single nucleotide variant Pathogenic rs80358274 1:41285088-41285088 1:40819416-40819416
10 KCNQ4 NM_004700.4(KCNQ4): c.785A> T (p.Asp262Val) single nucleotide variant Pathogenic rs80358275 1:41285095-41285095 1:40819423-40819423
11 c.667_684del(664_681del) deletion Pathogenic
12 c.725G> A single nucleotide variant Pathogenic
13 KCNQ4 NM_004700.4(KCNQ4): c.859G> C (p.Gly287Arg) single nucleotide variant Pathogenic rs137853969 1:41285571-41285571 1:40819899-40819899
14 KCNQ4 NM_004700.4(KCNQ4): c.808T> C (p.Tyr270His) single nucleotide variant Pathogenic rs797044967 1:41285118-41285118 1:40819446-40819446
15 KCNQ4 NM_004700.4(KCNQ4): c.823T> C (p.Trp275Arg) single nucleotide variant Pathogenic rs797044968 1:41285133-41285133 1:40819461-40819461
16 KCNQ4 NM_004700.4(KCNQ4): c.871C> T (p.Pro291Ser) single nucleotide variant Pathogenic rs797044969 1:41285583-41285583 1:40819911-40819911
17 KCNQ4 NM_004700.4(KCNQ4): c.872C> T (p.Pro291Leu) single nucleotide variant Pathogenic rs797044970 1:41285584-41285584 1:40819912-40819912
18 KCNQ4 NM_004700.4(KCNQ4): c.891G> T (p.Arg297Ser) single nucleotide variant Pathogenic rs797044971 1:41285603-41285603 1:40819931-40819931
19 KCNQ4 NM_004700.3(KCNQ4): c.1044_1051delTGCCTGGC (p.Ala349Profs) deletion Pathogenic rs797044972 1:41287988-41287995 1:40822316-40822323
20 KCNQ4 NM_004700.4(KCNQ4): c.2039C> T (p.Ser680Phe) single nucleotide variant Pathogenic rs772135867 1:41304146-41304146 1:40838474-40838474
21 KCNQ4 NM_004700.4(KCNQ4): c.140T> C (p.Leu47Pro) single nucleotide variant Pathogenic 1:41249905-41249905 1:40784233-40784233
22 KCNQ4 NM_004700.4(KCNQ4): c.796G> T (p.Asp266Tyr) single nucleotide variant Pathogenic 1:41285106-41285106 1:40819434-40819434
23 KCNQ4 NM_004700.4(KCNQ4): c.261_269del (p.Tyr88_Val90del) deletion Pathogenic 1:41250026-41250034 1:40784354-40784362
24 KCNQ4 NM_004700.4(KCNQ4): c.546C> G (p.Phe182Leu) single nucleotide variant Pathogenic rs80358273 1:41284190-41284190 1:40818518-40818518
25 KCNQ4 NM_004700.4(KCNQ4): c.226_227GC[3] (p.His77fs) short repeat Pathogenic rs1553165199 1:41249993-41249994 1:40784321-40784322
26 KCNQ4 NM_004700.4(KCNQ4): c.689T> A (p.Val230Glu) single nucleotide variant Pathogenic rs797044965 1:41284333-41284333 1:40818661-40818661
27 KCNQ4 NM_004700.4(KCNQ4): c.961G> A (p.Gly321Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28939710 1:41285852-41285852 1:40820180-40820180
28 KCNQ4 NM_004700.4(KCNQ4): c.803_805CCT[1] (p.Ser269del) short repeat Likely pathogenic rs797044966 1:41285116-41285118 1:40819444-40819446
29 KCNQ4 NM_004700.4(KCNQ4): c.648C> T (p.Arg216=) single nucleotide variant Uncertain significance rs80358269 1:41284292-41284292 1:40818620-40818620
30 KCNQ4 NM_004700.4(KCNQ4): c.682G> T (p.Gly228Cys) single nucleotide variant Uncertain significance rs367890569 1:41284326-41284326 1:40818654-40818654
31 KCNQ4 NM_004700.4(KCNQ4): c.1503C> T (p.Thr501=) single nucleotide variant Uncertain significance rs80358270 1:41296966-41296966 1:40831294-40831294
32 KCNQ4 NM_004700.4(KCNQ4): c.829G> A (p.Gly277Arg) single nucleotide variant Uncertain significance rs727504459 1:41285139-41285139 1:40819467-40819467
33 KCNQ4 NM_004700.4(KCNQ4): c.708+14G> C single nucleotide variant Benign rs2361660 1:41284366-41284366 1:40818694-40818694
34 KCNQ4 NM_004700.4(KCNQ4): c.777T> C (p.Ala259=) single nucleotide variant Benign rs4660468 1:41285087-41285087 1:40819415-40819415

Expression for Dfna2 Nonsyndromic Hearing Loss

Search GEO for disease gene expression data for Dfna2 Nonsyndromic Hearing Loss.

Pathways for Dfna2 Nonsyndromic Hearing Loss

GO Terms for Dfna2 Nonsyndromic Hearing Loss

Sources for Dfna2 Nonsyndromic Hearing Loss

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