MCID: DFN001
MIFTS: 4

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 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).

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 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3

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

Publications for Dfna2 Nonsyndromic Hearing Loss

Articles related to Dfna2 Nonsyndromic Hearing Loss:

# Title Authors Year
1
DFNA2 Nonsyndromic Hearing Loss ( 20301388 )
1993

Variations for Dfna2 Nonsyndromic Hearing Loss

ClinVar genetic disease variations for Dfna2 Nonsyndromic Hearing Loss:

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ4 NM_004700.3(KCNQ4): c.886G> A (p.Gly296Ser) single nucleotide variant Pathogenic rs80358279 GRCh38 Chromosome 1, 40819926: 40819926
2 KCNQ4 NM_004700.3(KCNQ4): c.853G> A (p.Gly285Ser) single nucleotide variant Pathogenic rs28937588 GRCh37 Chromosome 1, 41285565: 41285565
3 KCNQ4 NM_004700.3(KCNQ4): c.853G> A (p.Gly285Ser) single nucleotide variant Pathogenic rs28937588 GRCh38 Chromosome 1, 40819893: 40819893
4 KCNQ4 NM_004700.3(KCNQ4): c.827G> C (p.Trp276Ser) single nucleotide variant Pathogenic rs80358277 GRCh37 Chromosome 1, 41285137: 41285137
5 KCNQ4 NM_004700.3(KCNQ4): c.827G> C (p.Trp276Ser) single nucleotide variant Pathogenic rs80358277 GRCh38 Chromosome 1, 40819465: 40819465
6 KCNQ4 NM_004700.3(KCNQ4): c.961G> A (p.Gly321Ser) single nucleotide variant Pathogenic rs28939710 GRCh37 Chromosome 1, 41285852: 41285852
7 KCNQ4 NM_004700.3(KCNQ4): c.961G> A (p.Gly321Ser) single nucleotide variant Pathogenic rs28939710 GRCh38 Chromosome 1, 40820180: 40820180
8 KCNQ4 NM_004700.3(KCNQ4): c.853G> T (p.Gly285Cys) single nucleotide variant Pathogenic rs28937588 GRCh37 Chromosome 1, 41285565: 41285565
9 KCNQ4 NM_004700.3(KCNQ4): c.853G> T (p.Gly285Cys) single nucleotide variant Pathogenic rs28937588 GRCh38 Chromosome 1, 40819893: 40819893
10 KCNQ4 NM_004700.3(KCNQ4): c.211_223delCAGCGCTCCTCGG (p.Gln71Profs) deletion Pathogenic rs80358271 GRCh37 Chromosome 1, 41249976: 41249988
11 KCNQ4 NM_004700.3(KCNQ4): c.211_223delCAGCGCTCCTCGG (p.Gln71Profs) deletion Pathogenic rs80358271 GRCh38 Chromosome 1, 40784304: 40784316
12 KCNQ4 NM_004700.3(KCNQ4): c.842T> C (p.Leu281Ser) single nucleotide variant Pathogenic rs80358278 GRCh37 Chromosome 1, 41285554: 41285554
13 KCNQ4 NM_004700.3(KCNQ4): c.842T> C (p.Leu281Ser) single nucleotide variant Pathogenic rs80358278 GRCh38 Chromosome 1, 40819882: 40819882
14 KCNQ4 NM_004700.3(KCNQ4): c.821T> A (p.Leu274His) single nucleotide variant Pathogenic rs80358276 GRCh37 Chromosome 1, 41285131: 41285131
15 KCNQ4 NM_004700.3(KCNQ4): c.821T> A (p.Leu274His) single nucleotide variant Pathogenic rs80358276 GRCh38 Chromosome 1, 40819459: 40819459
16 KCNQ4 NM_004700.3(KCNQ4): c.211delC (p.Gln71Serfs) deletion Pathogenic rs80358272 GRCh37 Chromosome 1, 41249976: 41249976
17 KCNQ4 NM_004700.3(KCNQ4): c.211delC (p.Gln71Serfs) deletion Pathogenic rs80358272 GRCh38 Chromosome 1, 40784304: 40784304
18 KCNQ4 NM_004700.3(KCNQ4): c.886G> A (p.Gly296Ser) single nucleotide variant Pathogenic rs80358279 GRCh37 Chromosome 1, 41285598: 41285598
19 KCNQ4 NM_004700.3(KCNQ4): c.1503C> T (p.Thr501=) single nucleotide variant Uncertain significance rs80358270 GRCh37 Chromosome 1, 41296966: 41296966
20 KCNQ4 NM_004700.3(KCNQ4): c.1503C> T (p.Thr501=) single nucleotide variant Uncertain significance rs80358270 GRCh38 Chromosome 1, 40831294: 40831294
21 KCNQ4 NM_004700.3(KCNQ4): c.546C> G (p.Phe182Leu) single nucleotide variant Pathogenic rs80358273 GRCh37 Chromosome 1, 41284190: 41284190
22 KCNQ4 NM_004700.3(KCNQ4): c.546C> G (p.Phe182Leu) single nucleotide variant Pathogenic rs80358273 GRCh38 Chromosome 1, 40818518: 40818518
23 KCNQ4 NM_004700.3(KCNQ4): c.648C> T (p.Arg216=) single nucleotide variant Uncertain significance rs80358269 GRCh37 Chromosome 1, 41284292: 41284292
24 KCNQ4 NM_004700.3(KCNQ4): c.648C> T (p.Arg216=) single nucleotide variant Uncertain significance rs80358269 GRCh38 Chromosome 1, 40818620: 40818620
25 KCNQ4 NM_004700.3(KCNQ4): c.778G> A (p.Glu260Lys) single nucleotide variant Pathogenic rs80358274 GRCh37 Chromosome 1, 41285088: 41285088
26 KCNQ4 NM_004700.3(KCNQ4): c.778G> A (p.Glu260Lys) single nucleotide variant Pathogenic rs80358274 GRCh38 Chromosome 1, 40819416: 40819416
27 KCNQ4 NM_004700.3(KCNQ4): c.785A> T (p.Asp262Val) single nucleotide variant Pathogenic rs80358275 GRCh37 Chromosome 1, 41285095: 41285095
28 KCNQ4 NM_004700.3(KCNQ4): c.785A> T (p.Asp262Val) single nucleotide variant Pathogenic rs80358275 GRCh38 Chromosome 1, 40819423: 40819423
29 KCNQ4 NM_004700.3(KCNQ4): c.708+14G> C single nucleotide variant Benign rs2361660 GRCh37 Chromosome 1, 41284366: 41284366
30 KCNQ4 NM_004700.3(KCNQ4): c.708+14G> C single nucleotide variant Benign rs2361660 GRCh38 Chromosome 1, 40818694: 40818694
31 KCNQ4 NM_004700.3(KCNQ4): c.777T> C (p.Ala259=) single nucleotide variant Benign rs4660468 GRCh37 Chromosome 1, 41285087: 41285087
32 KCNQ4 NM_004700.3(KCNQ4): c.777T> C (p.Ala259=) single nucleotide variant Benign rs4660468 GRCh38 Chromosome 1, 40819415: 40819415
33 KCNQ4 NM_004700.3(KCNQ4): c.228_229dupGC (p.His77Argfs) duplication Pathogenic rs748123571 GRCh38 Chromosome 1, 40784321: 40784322
34 KCNQ4 NM_004700.3(KCNQ4): c.228_229dupGC (p.His77Argfs) duplication Pathogenic rs748123571 GRCh37 Chromosome 1, 41249993: 41249994
35 KCNQ4 NM_004700.3(KCNQ4): c.689T> A (p.Val230Glu) single nucleotide variant Pathogenic rs797044965 GRCh38 Chromosome 1, 40818661: 40818661
36 KCNQ4 NM_004700.3(KCNQ4): c.689T> A (p.Val230Glu) single nucleotide variant Pathogenic rs797044965 GRCh37 Chromosome 1, 41284333: 41284333
37 KCNQ4 NM_004700.3(KCNQ4): c.806_808delCCT (p.Ser269del) deletion Likely pathogenic rs797044966 GRCh38 Chromosome 1, 40819444: 40819446
38 KCNQ4 NM_004700.3(KCNQ4): c.806_808delCCT (p.Ser269del) deletion Likely pathogenic rs797044966 GRCh37 Chromosome 1, 41285116: 41285118
39 KCNQ4 NM_004700.3(KCNQ4): c.808T> C (p.Tyr270His) single nucleotide variant Pathogenic rs797044967 GRCh38 Chromosome 1, 40819446: 40819446
40 KCNQ4 NM_004700.3(KCNQ4): c.808T> C (p.Tyr270His) single nucleotide variant Pathogenic rs797044967 GRCh37 Chromosome 1, 41285118: 41285118
41 KCNQ4 NM_004700.3(KCNQ4): c.823T> C (p.Trp275Arg) single nucleotide variant Pathogenic rs797044968 GRCh38 Chromosome 1, 40819461: 40819461
42 KCNQ4 NM_004700.3(KCNQ4): c.823T> C (p.Trp275Arg) single nucleotide variant Pathogenic rs797044968 GRCh37 Chromosome 1, 41285133: 41285133
43 KCNQ4 NM_004700.3(KCNQ4): c.871C> T (p.Pro291Ser) single nucleotide variant Pathogenic rs797044969 GRCh38 Chromosome 1, 40819911: 40819911
44 KCNQ4 NM_004700.3(KCNQ4): c.871C> T (p.Pro291Ser) single nucleotide variant Pathogenic rs797044969 GRCh37 Chromosome 1, 41285583: 41285583
45 KCNQ4 NM_004700.3(KCNQ4): c.872C> T (p.Pro291Leu) single nucleotide variant Pathogenic rs797044970 GRCh38 Chromosome 1, 40819912: 40819912
46 KCNQ4 NM_004700.3(KCNQ4): c.872C> T (p.Pro291Leu) single nucleotide variant Pathogenic rs797044970 GRCh37 Chromosome 1, 41285584: 41285584
47 KCNQ4 NM_004700.3(KCNQ4): c.891G> T (p.Arg297Ser) single nucleotide variant Pathogenic rs797044971 GRCh38 Chromosome 1, 40819931: 40819931
48 KCNQ4 NM_004700.3(KCNQ4): c.891G> T (p.Arg297Ser) single nucleotide variant Pathogenic rs797044971 GRCh37 Chromosome 1, 41285603: 41285603
49 KCNQ4 NM_004700.3(KCNQ4): c.1044_1051delTGCCTGGC (p.Ala349Profs) deletion Pathogenic rs797044972 GRCh38 Chromosome 1, 40822316: 40822323
50 KCNQ4 NM_004700.3(KCNQ4): c.1044_1051delTGCCTGGC (p.Ala349Profs) deletion Pathogenic rs797044972 GRCh37 Chromosome 1, 41287988: 41287995

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
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55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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