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 10.2

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 all 47)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ4 NM_004700.3(KCNQ4): c.853G> A (p.Gly285Ser) single nucleotide variant Likely pathogenic rs28937588 GRCh37 Chromosome 1, 41285565: 41285565
2 KCNQ4 NM_004700.3(KCNQ4): c.853G> A (p.Gly285Ser) single nucleotide variant Likely pathogenic rs28937588 GRCh38 Chromosome 1, 40819893: 40819893
3 KCNQ4 NM_004700.3(KCNQ4): c.827G> C (p.Trp276Ser) single nucleotide variant Pathogenic rs80358277 GRCh37 Chromosome 1, 41285137: 41285137
4 KCNQ4 NM_004700.3(KCNQ4): c.827G> C (p.Trp276Ser) single nucleotide variant Pathogenic rs80358277 GRCh38 Chromosome 1, 40819465: 40819465
5 KCNQ4 NM_004700.3(KCNQ4): c.961G> A (p.Gly321Ser) single nucleotide variant Pathogenic rs28939710 GRCh37 Chromosome 1, 41285852: 41285852
6 KCNQ4 NM_004700.3(KCNQ4): c.961G> A (p.Gly321Ser) single nucleotide variant Pathogenic rs28939710 GRCh38 Chromosome 1, 40820180: 40820180
7 KCNQ4 NM_004700.3(KCNQ4): c.853G> T (p.Gly285Cys) single nucleotide variant Pathogenic rs28937588 GRCh37 Chromosome 1, 41285565: 41285565
8 KCNQ4 NM_004700.3(KCNQ4): c.853G> T (p.Gly285Cys) single nucleotide variant Pathogenic rs28937588 GRCh38 Chromosome 1, 40819893: 40819893
9 KCNQ4 NM_004700.3(KCNQ4): c.211_223delCAGCGCTCCTCGG (p.Gln71Profs) deletion Pathogenic rs80358271 GRCh37 Chromosome 1, 41249976: 41249988
10 KCNQ4 NM_004700.3(KCNQ4): c.211_223delCAGCGCTCCTCGG (p.Gln71Profs) deletion Pathogenic rs80358271 GRCh38 Chromosome 1, 40784304: 40784316
11 KCNQ4 NM_004700.3(KCNQ4): c.842T> C (p.Leu281Ser) single nucleotide variant Pathogenic rs80358278 GRCh37 Chromosome 1, 41285554: 41285554
12 KCNQ4 NM_004700.3(KCNQ4): c.842T> C (p.Leu281Ser) single nucleotide variant Pathogenic rs80358278 GRCh38 Chromosome 1, 40819882: 40819882
13 KCNQ4 NM_004700.3(KCNQ4): c.821T> A (p.Leu274His) single nucleotide variant Pathogenic rs80358276 GRCh37 Chromosome 1, 41285131: 41285131
14 KCNQ4 NM_004700.3(KCNQ4): c.821T> A (p.Leu274His) single nucleotide variant Pathogenic rs80358276 GRCh38 Chromosome 1, 40819459: 40819459
15 KCNQ4 NM_004700.3(KCNQ4): c.211delC (p.Gln71Serfs) deletion Pathogenic rs80358272 GRCh37 Chromosome 1, 41249976: 41249976
16 KCNQ4 NM_004700.3(KCNQ4): c.211delC (p.Gln71Serfs) deletion Pathogenic rs80358272 GRCh38 Chromosome 1, 40784304: 40784304
17 KCNQ4 NM_004700.3(KCNQ4): c.886G> A (p.Gly296Ser) single nucleotide variant Pathogenic rs80358279 GRCh37 Chromosome 1, 41285598: 41285598
18 KCNQ4 NM_004700.3(KCNQ4): c.886G> A (p.Gly296Ser) single nucleotide variant Pathogenic rs80358279 GRCh38 Chromosome 1, 40819926: 40819926
19 KCNQ4 NM_004700.3(KCNQ4): c.546C> G (p.Phe182Leu) single nucleotide variant Pathogenic rs80358273 GRCh37 Chromosome 1, 41284190: 41284190
20 KCNQ4 NM_004700.3(KCNQ4): c.546C> G (p.Phe182Leu) single nucleotide variant Pathogenic rs80358273 GRCh38 Chromosome 1, 40818518: 40818518
21 KCNQ4 NM_004700.3(KCNQ4): c.778G> A (p.Glu260Lys) single nucleotide variant Pathogenic rs80358274 GRCh37 Chromosome 1, 41285088: 41285088
22 KCNQ4 NM_004700.3(KCNQ4): c.778G> A (p.Glu260Lys) single nucleotide variant Pathogenic rs80358274 GRCh38 Chromosome 1, 40819416: 40819416
23 KCNQ4 NM_004700.3(KCNQ4): c.785A> T (p.Asp262Val) single nucleotide variant Pathogenic rs80358275 GRCh37 Chromosome 1, 41285095: 41285095
24 KCNQ4 NM_004700.3(KCNQ4): c.785A> T (p.Asp262Val) single nucleotide variant Pathogenic rs80358275 GRCh38 Chromosome 1, 40819423: 40819423
25 c.667_684del(664_681del) deletion Pathogenic
26 c.725G> A single nucleotide variant Pathogenic
27 c.859G> C single nucleotide variant Pathogenic
28 KCNQ4 NM_004700.3(KCNQ4): c.228_229dupGC (p.His77Argfs) duplication Pathogenic rs748123571 GRCh38 Chromosome 1, 40784321: 40784322
29 KCNQ4 NM_004700.3(KCNQ4): c.228_229dupGC (p.His77Argfs) duplication Pathogenic rs748123571 GRCh37 Chromosome 1, 41249993: 41249994
30 KCNQ4 NM_004700.3(KCNQ4): c.689T> A (p.Val230Glu) single nucleotide variant Pathogenic rs797044965 GRCh38 Chromosome 1, 40818661: 40818661
31 KCNQ4 NM_004700.3(KCNQ4): c.689T> A (p.Val230Glu) single nucleotide variant Pathogenic rs797044965 GRCh37 Chromosome 1, 41284333: 41284333
32 KCNQ4 NM_004700.3(KCNQ4): c.806_808delCCT (p.Ser269del) deletion Likely pathogenic rs797044966 GRCh38 Chromosome 1, 40819444: 40819446
33 KCNQ4 NM_004700.3(KCNQ4): c.806_808delCCT (p.Ser269del) deletion Likely pathogenic rs797044966 GRCh37 Chromosome 1, 41285116: 41285118
34 KCNQ4 NM_004700.3(KCNQ4): c.808T> C (p.Tyr270His) single nucleotide variant Pathogenic rs797044967 GRCh38 Chromosome 1, 40819446: 40819446
35 KCNQ4 NM_004700.3(KCNQ4): c.808T> C (p.Tyr270His) single nucleotide variant Pathogenic rs797044967 GRCh37 Chromosome 1, 41285118: 41285118
36 KCNQ4 NM_004700.3(KCNQ4): c.823T> C (p.Trp275Arg) single nucleotide variant Pathogenic rs797044968 GRCh38 Chromosome 1, 40819461: 40819461
37 KCNQ4 NM_004700.3(KCNQ4): c.823T> C (p.Trp275Arg) single nucleotide variant Pathogenic rs797044968 GRCh37 Chromosome 1, 41285133: 41285133
38 KCNQ4 NM_004700.3(KCNQ4): c.871C> T (p.Pro291Ser) single nucleotide variant Pathogenic rs797044969 GRCh38 Chromosome 1, 40819911: 40819911
39 KCNQ4 NM_004700.3(KCNQ4): c.871C> T (p.Pro291Ser) single nucleotide variant Pathogenic rs797044969 GRCh37 Chromosome 1, 41285583: 41285583
40 KCNQ4 NM_004700.3(KCNQ4): c.872C> T (p.Pro291Leu) single nucleotide variant Pathogenic rs797044970 GRCh38 Chromosome 1, 40819912: 40819912
41 KCNQ4 NM_004700.3(KCNQ4): c.872C> T (p.Pro291Leu) single nucleotide variant Pathogenic rs797044970 GRCh37 Chromosome 1, 41285584: 41285584
42 KCNQ4 NM_004700.3(KCNQ4): c.891G> T (p.Arg297Ser) single nucleotide variant Pathogenic rs797044971 GRCh38 Chromosome 1, 40819931: 40819931
43 KCNQ4 NM_004700.3(KCNQ4): c.891G> T (p.Arg297Ser) single nucleotide variant Pathogenic rs797044971 GRCh37 Chromosome 1, 41285603: 41285603
44 KCNQ4 NM_004700.3(KCNQ4): c.1044_1051delTGCCTGGC (p.Ala349Profs) deletion Pathogenic rs797044972 GRCh38 Chromosome 1, 40822316: 40822323
45 KCNQ4 NM_004700.3(KCNQ4): c.1044_1051delTGCCTGGC (p.Ala349Profs) deletion Pathogenic rs797044972 GRCh37 Chromosome 1, 41287988: 41287995
46 KCNQ4 NM_004700.3(KCNQ4): c.2039C> T (p.Ser680Phe) single nucleotide variant Pathogenic rs772135867 GRCh38 Chromosome 1, 40838474: 40838474
47 KCNQ4 NM_004700.3(KCNQ4): c.2039C> T (p.Ser680Phe) single nucleotide variant Pathogenic rs772135867 GRCh37 Chromosome 1, 41304146: 41304146

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
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
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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