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 25
Dfna 2 Nonsyndromic Hearing Loss 30 6

Characteristics:

GeneReviews:

25
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 30 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 60)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ4 NM_004700.3(KCNQ4): c.228_229dupGC (p.His77Argfs) duplication Pathogenic rs1553165199 GRCh38 Chromosome 1, 40784321: 40784322
2 KCNQ4 NM_004700.3(KCNQ4): c.228_229dupGC (p.His77Argfs) duplication Pathogenic rs1553165199 GRCh37 Chromosome 1, 41249993: 41249994
3 KCNQ4 NM_004700.3(KCNQ4): c.689T> A (p.Val230Glu) single nucleotide variant Pathogenic rs797044965 GRCh38 Chromosome 1, 40818661: 40818661
4 KCNQ4 NM_004700.3(KCNQ4): c.689T> A (p.Val230Glu) single nucleotide variant Pathogenic rs797044965 GRCh37 Chromosome 1, 41284333: 41284333
5 KCNQ4 NM_004700.3(KCNQ4): c.806_808delCCT (p.Ser269del) deletion Likely pathogenic rs797044966 GRCh38 Chromosome 1, 40819444: 40819446
6 KCNQ4 NM_004700.3(KCNQ4): c.806_808delCCT (p.Ser269del) deletion Likely pathogenic rs797044966 GRCh37 Chromosome 1, 41285116: 41285118
7 KCNQ4 NM_004700.3(KCNQ4): c.808T> C (p.Tyr270His) single nucleotide variant Pathogenic rs797044967 GRCh38 Chromosome 1, 40819446: 40819446
8 KCNQ4 NM_004700.3(KCNQ4): c.808T> C (p.Tyr270His) single nucleotide variant Pathogenic rs797044967 GRCh37 Chromosome 1, 41285118: 41285118
9 KCNQ4 NM_004700.3(KCNQ4): c.823T> C (p.Trp275Arg) single nucleotide variant Pathogenic rs797044968 GRCh38 Chromosome 1, 40819461: 40819461
10 KCNQ4 NM_004700.3(KCNQ4): c.823T> C (p.Trp275Arg) single nucleotide variant Pathogenic rs797044968 GRCh37 Chromosome 1, 41285133: 41285133
11 KCNQ4 NM_004700.3(KCNQ4): c.871C> T (p.Pro291Ser) single nucleotide variant Pathogenic rs797044969 GRCh38 Chromosome 1, 40819911: 40819911
12 KCNQ4 NM_004700.3(KCNQ4): c.871C> T (p.Pro291Ser) single nucleotide variant Pathogenic rs797044969 GRCh37 Chromosome 1, 41285583: 41285583
13 KCNQ4 NM_004700.3(KCNQ4): c.872C> T (p.Pro291Leu) single nucleotide variant Pathogenic rs797044970 GRCh38 Chromosome 1, 40819912: 40819912
14 KCNQ4 NM_004700.3(KCNQ4): c.872C> T (p.Pro291Leu) single nucleotide variant Pathogenic rs797044970 GRCh37 Chromosome 1, 41285584: 41285584
15 KCNQ4 NM_004700.3(KCNQ4): c.891G> T (p.Arg297Ser) single nucleotide variant Pathogenic rs797044971 GRCh38 Chromosome 1, 40819931: 40819931
16 KCNQ4 NM_004700.3(KCNQ4): c.891G> T (p.Arg297Ser) single nucleotide variant Pathogenic rs797044971 GRCh37 Chromosome 1, 41285603: 41285603
17 KCNQ4 NM_004700.3(KCNQ4): c.1044_1051delTGCCTGGC (p.Ala349Profs) deletion Pathogenic rs797044972 GRCh38 Chromosome 1, 40822316: 40822323
18 KCNQ4 NM_004700.3(KCNQ4): c.1044_1051delTGCCTGGC (p.Ala349Profs) deletion Pathogenic rs797044972 GRCh37 Chromosome 1, 41287988: 41287995
19 KCNQ4 NM_004700.3(KCNQ4): c.2039C> T (p.Ser680Phe) single nucleotide variant Pathogenic rs772135867 GRCh38 Chromosome 1, 40838474: 40838474
20 KCNQ4 NM_004700.3(KCNQ4): c.2039C> T (p.Ser680Phe) single nucleotide variant Pathogenic rs772135867 GRCh37 Chromosome 1, 41304146: 41304146
21 KCNQ4 NM_004700.4(KCNQ4): c.853G> A (p.Gly285Ser) single nucleotide variant Pathogenic rs28937588 GRCh37 Chromosome 1, 41285565: 41285565
22 KCNQ4 NM_004700.4(KCNQ4): c.853G> A (p.Gly285Ser) single nucleotide variant Pathogenic rs28937588 GRCh38 Chromosome 1, 40819893: 40819893
23 KCNQ4 NM_004700.3(KCNQ4): c.827G> C (p.Trp276Ser) single nucleotide variant Pathogenic rs80358277 GRCh37 Chromosome 1, 41285137: 41285137
24 KCNQ4 NM_004700.3(KCNQ4): c.827G> C (p.Trp276Ser) single nucleotide variant Pathogenic rs80358277 GRCh38 Chromosome 1, 40819465: 40819465
25 KCNQ4 NM_004700.3(KCNQ4): c.961G> A (p.Gly321Ser) single nucleotide variant Pathogenic rs28939710 GRCh37 Chromosome 1, 41285852: 41285852
26 KCNQ4 NM_004700.3(KCNQ4): c.961G> A (p.Gly321Ser) single nucleotide variant Pathogenic rs28939710 GRCh38 Chromosome 1, 40820180: 40820180
27 KCNQ4 NM_004700.3(KCNQ4): c.853G> T (p.Gly285Cys) single nucleotide variant Pathogenic rs28937588 GRCh37 Chromosome 1, 41285565: 41285565
28 KCNQ4 NM_004700.3(KCNQ4): c.853G> T (p.Gly285Cys) single nucleotide variant Pathogenic rs28937588 GRCh38 Chromosome 1, 40819893: 40819893
29 KCNQ4 NM_004700.3(KCNQ4): c.211_223delCAGCGCTCCTCGG (p.Gln71Profs) deletion Pathogenic rs80358271 GRCh37 Chromosome 1, 41249976: 41249988
30 KCNQ4 NM_004700.3(KCNQ4): c.211_223delCAGCGCTCCTCGG (p.Gln71Profs) deletion Pathogenic rs80358271 GRCh38 Chromosome 1, 40784304: 40784316
31 KCNQ4 NM_004700.3(KCNQ4): c.842T> C (p.Leu281Ser) single nucleotide variant Pathogenic rs80358278 GRCh37 Chromosome 1, 41285554: 41285554
32 KCNQ4 NM_004700.3(KCNQ4): c.842T> C (p.Leu281Ser) single nucleotide variant Pathogenic rs80358278 GRCh38 Chromosome 1, 40819882: 40819882
33 KCNQ4 NM_004700.3(KCNQ4): c.821T> A (p.Leu274His) single nucleotide variant Pathogenic rs80358276 GRCh37 Chromosome 1, 41285131: 41285131
34 KCNQ4 NM_004700.3(KCNQ4): c.821T> A (p.Leu274His) single nucleotide variant Pathogenic rs80358276 GRCh38 Chromosome 1, 40819459: 40819459
35 KCNQ4 NM_004700.3(KCNQ4): c.211delC (p.Gln71Serfs) deletion Pathogenic rs80358272 GRCh37 Chromosome 1, 41249976: 41249976
36 KCNQ4 NM_004700.3(KCNQ4): c.211delC (p.Gln71Serfs) deletion Pathogenic rs80358272 GRCh38 Chromosome 1, 40784304: 40784304
37 KCNQ4 NM_004700.3(KCNQ4): c.886G> A (p.Gly296Ser) single nucleotide variant Pathogenic rs80358279 GRCh37 Chromosome 1, 41285598: 41285598
38 KCNQ4 NM_004700.3(KCNQ4): c.886G> A (p.Gly296Ser) single nucleotide variant Pathogenic rs80358279 GRCh38 Chromosome 1, 40819926: 40819926
39 KCNQ4 NM_004700.3(KCNQ4): c.1503C> T (p.Thr501=) single nucleotide variant Uncertain significance rs80358270 GRCh37 Chromosome 1, 41296966: 41296966
40 KCNQ4 NM_004700.3(KCNQ4): c.1503C> T (p.Thr501=) single nucleotide variant Uncertain significance rs80358270 GRCh38 Chromosome 1, 40831294: 40831294
41 KCNQ4 NM_004700.3(KCNQ4): c.546C> G (p.Phe182Leu) single nucleotide variant Pathogenic rs80358273 GRCh37 Chromosome 1, 41284190: 41284190
42 KCNQ4 NM_004700.3(KCNQ4): c.546C> G (p.Phe182Leu) single nucleotide variant Pathogenic rs80358273 GRCh38 Chromosome 1, 40818518: 40818518
43 KCNQ4 NM_004700.3(KCNQ4): c.648C> T (p.Arg216=) single nucleotide variant Uncertain significance rs80358269 GRCh37 Chromosome 1, 41284292: 41284292
44 KCNQ4 NM_004700.3(KCNQ4): c.648C> T (p.Arg216=) single nucleotide variant Uncertain significance rs80358269 GRCh38 Chromosome 1, 40818620: 40818620
45 KCNQ4 NM_004700.3(KCNQ4): c.778G> A (p.Glu260Lys) single nucleotide variant Pathogenic rs80358274 GRCh37 Chromosome 1, 41285088: 41285088
46 KCNQ4 NM_004700.3(KCNQ4): c.778G> A (p.Glu260Lys) single nucleotide variant Pathogenic rs80358274 GRCh38 Chromosome 1, 40819416: 40819416
47 KCNQ4 NM_004700.3(KCNQ4): c.785A> T (p.Asp262Val) single nucleotide variant Pathogenic rs80358275 GRCh37 Chromosome 1, 41285095: 41285095
48 KCNQ4 NM_004700.3(KCNQ4): c.785A> T (p.Asp262Val) single nucleotide variant Pathogenic rs80358275 GRCh38 Chromosome 1, 40819423: 40819423
49 KCNQ4 NM_004700.3(KCNQ4): c.708+14G> C single nucleotide variant Benign rs2361660 GRCh37 Chromosome 1, 41284366: 41284366
50 KCNQ4 NM_004700.3(KCNQ4): c.708+14G> C single nucleotide variant Benign rs2361660 GRCh38 Chromosome 1, 40818694: 40818694

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....