MCID: NNS044
MIFTS: 21

Non-Syndromic Genetic Deafness

Categories: Ear diseases, Rare diseases

Aliases & Classifications for Non-Syndromic Genetic Deafness

MalaCards integrated aliases for Non-Syndromic Genetic Deafness:

Name: Non-Syndromic Genetic Deafness 59
Isolated Genetic Deafness 59

Characteristics:

Orphanet epidemiological data:

59
non-syndromic genetic deafness
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Ear diseases


External Ids:

Orphanet 59 ORPHA87884
ICD10 via Orphanet 34 H90.5

Summaries for Non-Syndromic Genetic Deafness

MalaCards based summary : Non-Syndromic Genetic Deafness, also known as isolated genetic deafness, is related to prelingual non-syndromic genetic deafness and postlingual non-syndromic genetic deafness. An important gene associated with Non-Syndromic Genetic Deafness is MYO15A (Myosin XVA). Related phenotypes are hearing/vestibular/ear and behavior/neurological

Related Diseases for Non-Syndromic Genetic Deafness

Diseases related to Non-Syndromic Genetic Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 prelingual non-syndromic genetic deafness 12.2
2 postlingual non-syndromic genetic deafness 12.2
3 deafness, autosomal recessive 3 11.0 GJB2 MYO15A
4 branchiootic syndrome 1 11.0 GJB2 LOXHD1
5 deafness, autosomal recessive 21 10.9 GJB2 TECTA
6 deafness, autosomal recessive 7 10.9 GJB2 TMC1
7 deafness, autosomal recessive 8 10.8 STRC TMPRSS3
8 deafness, x-linked 2 10.8 GJB2 POU3F4
9 deafness, autosomal recessive 28 10.8 GJB2 TRIOBP
10 deafness, autosomal recessive 30 10.8 GJB2 MYO15A TMC1
11 deafness, autosomal dominant 36 10.8 GJB2 TMC1
12 deafness, autosomal recessive 77 10.8 LOXHD1 PJVK
13 deafness, autosomal recessive 2 10.8 GJB2 MYO15A TECTA
14 deafness, autosomal recessive 59 10.8 GJB2 PJVK
15 deafness, autosomal recessive 24 10.8 RDX TMPRSS3
16 auditory neuropathy, autosomal dominant, 1 10.7 GJB2 PJVK
17 deafness, autosomal recessive 26 10.7 GJB2 TECTA
18 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.7 COCH GJB2 WFS1
19 deafness, autosomal dominant 11 10.7 GSDME MYO15A
20 deafness, autosomal dominant 22 10.7 COCH MYO15A
21 hodgkin's lymphoma, nodular sclerosis 10.6 GJB2 MYO15A STRC TMC1
22 deafness, autosomal recessive 9 10.6 GJB2 PJVK TECTA
23 deafness, autosomal dominant 12 10.6 GSDME TECTA
24 deafness, autosomal recessive 37 10.6 MYO15A TRIOBP
25 deafness, autosomal recessive 49 10.6 GJB2 MARVELD2 POU3F4
26 deafness, autosomal recessive 85 10.5 MYO15A OTOA PJVK TMPRSS3
27 deafness, autosomal recessive 83 10.5 MYO15A OTOA PJVK TMPRSS3
28 deafness, autosomal dominant 9 10.5 COCH GSDME STRC
29 autosomal recessive nonsyndromic deafness 3 10.5 GJB2 MYO15A PJVK TECTA
30 deafness, autosomal dominant 17 10.5 GSDME MYO15A
31 vestibular disease 10.5 COCH GJB2
32 deafness, autosomal recessive 16 10.3 COCH GJB2 STRC TMPRSS3 WFS1
33 deafness, autosomal recessive 6 10.3 GJB2 USH2A
34 inner ear disease 10.3 COCH GJB2 KCNQ4 WFS1
35 trehalase deficiency 10.3 GJB2 MYO15A TMPRSS3 USH2A WFS1
36 deafness, autosomal dominant 2a 10.2 COCH GJB2 KCNQ4 TMPRSS3 WFS1
37 autosomal recessive nonsyndromic deafness 10.1 GIPC3 GJB2 MYO15A TMC1 TMPRSS3 TRIOBP
38 deafness, autosomal recessive 67 10.0 GJB2 PJVK
39 deafness, autosomal dominant 6 10.0 COCH GJB2 GSDME STRC TMPRSS3 WFS1
40 deafness, autosomal dominant 13 9.7 COCH GJB2 GSDME STRC TMPRSS3 USH2A
41 autosomal dominant non-syndromic sensorineural deafness type dfna 9.6 COCH GJB2 GSDME KCNQ4 TECTA TMC1
42 auditory system disease 9.3 COCH GJB2 KCNQ4 MYO15A POU3F4 STRC
43 deafness, autosomal recessive 9.3 GIPC3 GJB2 KARS LOXHD1 MARVELD2 OTOA
44 autosomal dominant nonsyndromic deafness 9.2 COCH GJB2 GSDME KCNQ4 PJVK TECTA
45 sensorineural hearing loss 8.6 COCH GIPC3 GJB2 GSDME KCNQ4 MYO15A
46 autosomal recessive non-syndromic sensorineural deafness type dfnb 8.0 GIPC3 GJB2 KARS LOXHD1 MARVELD2 MYO15A
47 nonsyndromic deafness 6.3 COCH GIPC3 GJB2 GSDME KARS KCNQ4

Graphical network of the top 20 diseases related to Non-Syndromic Genetic Deafness:



Diseases related to Non-Syndromic Genetic Deafness

Symptoms & Phenotypes for Non-Syndromic Genetic Deafness

MGI Mouse Phenotypes related to Non-Syndromic Genetic Deafness:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.89 COCH GIPC3 GJB2 GSDME KCNQ4 MARVELD2
2 behavior/neurological MP:0005386 9.85 GIPC3 MARVELD2 MYO15A PJVK POU3F4 RDX
3 nervous system MP:0003631 9.53 OTOA PJVK POU3F4 RDX STRC TECTA

Drugs & Therapeutics for Non-Syndromic Genetic Deafness

Search Clinical Trials , NIH Clinical Center for Non-Syndromic Genetic Deafness

Genetic Tests for Non-Syndromic Genetic Deafness

Anatomical Context for Non-Syndromic Genetic Deafness

Publications for Non-Syndromic Genetic Deafness

Variations for Non-Syndromic Genetic Deafness

ClinVar genetic disease variations for Non-Syndromic Genetic Deafness:

6
(show top 50) (show all 551)
# Gene Variation Type Significance SNP ID Assembly Location
1 LRTOMT NM_001145308.4(LRTOMT): c.242G> A (p.Arg81Gln) single nucleotide variant Likely pathogenic rs137853185 GRCh37 Chromosome 11, 71817140: 71817140
2 LRTOMT NM_001145308.4(LRTOMT): c.242G> A (p.Arg81Gln) single nucleotide variant Likely pathogenic rs137853185 GRCh38 Chromosome 11, 72106094: 72106094
3 MARVELD2 NM_001038603.2(MARVELD2): c.1498C> T (p.Arg500Ter) single nucleotide variant Pathogenic rs118203957 GRCh37 Chromosome 5, 68728915: 68728915
4 MARVELD2 NM_001038603.2(MARVELD2): c.1498C> T (p.Arg500Ter) single nucleotide variant Pathogenic rs118203957 GRCh38 Chromosome 5, 69433088: 69433088
5 PJVK NM_001042702.3(PJVK): c.499C> T (p.Arg167Ter) single nucleotide variant Pathogenic rs118203989 GRCh37 Chromosome 2, 179320828: 179320828
6 PJVK NM_001042702.3(PJVK): c.499C> T (p.Arg167Ter) single nucleotide variant Pathogenic rs118203989 GRCh38 Chromosome 2, 178456101: 178456101
7 TMC1 NM_138691.2(TMC1): c.1714G> A (p.Asp572Asn) single nucleotide variant Pathogenic rs121908072 GRCh37 Chromosome 9, 75431077: 75431077
8 TMC1 NM_138691.2(TMC1): c.1714G> A (p.Asp572Asn) single nucleotide variant Pathogenic rs121908072 GRCh38 Chromosome 9, 72816161: 72816161
9 TMC1 NM_138691.2(TMC1): c.100C> T (p.Arg34Ter) single nucleotide variant Pathogenic rs121908073 GRCh37 Chromosome 9, 75309494: 75309494
10 TMC1 NM_138691.2(TMC1): c.100C> T (p.Arg34Ter) single nucleotide variant Pathogenic rs121908073 GRCh38 Chromosome 9, 72694578: 72694578
11 WFS1 NM_006005.3(WFS1): c.2146G> A (p.Ala716Thr) single nucleotide variant Pathogenic/Likely pathogenic rs28937893 GRCh37 Chromosome 4, 6303668: 6303668
12 WFS1 NM_006005.3(WFS1): c.2146G> A (p.Ala716Thr) single nucleotide variant Pathogenic/Likely pathogenic rs28937893 GRCh38 Chromosome 4, 6301941: 6301941
13 WFS1 NM_006005.3(WFS1): c.2590G> A (p.Glu864Lys) single nucleotide variant Pathogenic/Likely pathogenic rs74315205 GRCh37 Chromosome 4, 6304112: 6304112
14 WFS1 NM_006005.3(WFS1): c.2590G> A (p.Glu864Lys) single nucleotide variant Pathogenic/Likely pathogenic rs74315205 GRCh38 Chromosome 4, 6302385: 6302385
15 PCDH15 NM_033056.3(PCDH15): c.400C> G (p.Arg134Gly) single nucleotide variant Likely pathogenic rs137853003 GRCh37 Chromosome 10, 56128954: 56128954
16 PCDH15 NM_033056.3(PCDH15): c.400C> G (p.Arg134Gly) single nucleotide variant Likely pathogenic rs137853003 GRCh38 Chromosome 10, 54369194: 54369194
17 OTOF NM_194248.2(OTOF): c.4491T> A (p.Tyr1497Ter) single nucleotide variant Pathogenic rs80356600 GRCh37 Chromosome 2, 26689591: 26689591
18 OTOF NM_194248.2(OTOF): c.4491T> A (p.Tyr1497Ter) single nucleotide variant Pathogenic rs80356600 GRCh38 Chromosome 2, 26466723: 26466723
19 OTOF NM_194248.2(OTOF): c.2485C> T (p.Gln829Ter) single nucleotide variant Pathogenic rs80356593 GRCh37 Chromosome 2, 26700078: 26700078
20 OTOF NM_194248.2(OTOF): c.2485C> T (p.Gln829Ter) single nucleotide variant Pathogenic rs80356593 GRCh38 Chromosome 2, 26477210: 26477210
21 OTOF NM_194248.2(OTOF): c.1544T> C (p.Ile515Thr) single nucleotide variant Likely pathogenic rs80356586 GRCh37 Chromosome 2, 26705309: 26705309
22 OTOF NM_194248.2(OTOF): c.1544T> C (p.Ile515Thr) single nucleotide variant Likely pathogenic rs80356586 GRCh38 Chromosome 2, 26482441: 26482441
23 KCNQ4 NM_004700.3(KCNQ4): c.853G> A (p.Gly285Ser) single nucleotide variant Likely pathogenic rs28937588 GRCh37 Chromosome 1, 41285565: 41285565
24 KCNQ4 NM_004700.3(KCNQ4): c.853G> A (p.Gly285Ser) single nucleotide variant Likely pathogenic rs28937588 GRCh38 Chromosome 1, 40819893: 40819893
25 KCNQ4 NM_004700.3(KCNQ4): c.827G> C (p.Trp276Ser) single nucleotide variant Pathogenic rs80358277 GRCh37 Chromosome 1, 41285137: 41285137
26 KCNQ4 NM_004700.3(KCNQ4): c.827G> C (p.Trp276Ser) single nucleotide variant Pathogenic rs80358277 GRCh38 Chromosome 1, 40819465: 40819465
27 COCH NM_004086.2(COCH): c.151C> T (p.Pro51Ser) single nucleotide variant Pathogenic rs28938175 GRCh37 Chromosome 14, 31346846: 31346846
28 COCH NM_004086.2(COCH): c.151C> T (p.Pro51Ser) single nucleotide variant Pathogenic rs28938175 GRCh38 Chromosome 14, 30877640: 30877640
29 COCH NM_004086.2(COCH): c.1625G> T (p.Cys542Phe) single nucleotide variant Pathogenic rs121908932 GRCh37 Chromosome 14, 31358969: 31358969
30 COCH NM_004086.2(COCH): c.1625G> T (p.Cys542Phe) single nucleotide variant Pathogenic rs121908932 GRCh38 Chromosome 14, 30889763: 30889763
31 MYO6 NM_004999.3(MYO6): c.737A> G (p.His246Arg) single nucleotide variant Likely pathogenic rs121912560 GRCh37 Chromosome 6, 76551016: 76551016
32 MYO6 NM_004999.3(MYO6): c.737A> G (p.His246Arg) single nucleotide variant Likely pathogenic rs121912560 GRCh38 Chromosome 6, 75841299: 75841299
33 MYO6 NM_004999.3(MYO6): c.2545C> T (p.Arg849Ter) single nucleotide variant Pathogenic rs121912561 GRCh37 Chromosome 6, 76596598: 76596598
34 MYO6 NM_004999.3(MYO6): c.2545C> T (p.Arg849Ter) single nucleotide variant Pathogenic rs121912561 GRCh38 Chromosome 6, 75886881: 75886881
35 GJB2 NM_004004.5(GJB2): c.231G> A (p.Trp77Ter) single nucleotide variant Pathogenic rs80338944 GRCh37 Chromosome 13, 20763490: 20763490
36 GJB2 NM_004004.5(GJB2): c.231G> A (p.Trp77Ter) single nucleotide variant Pathogenic rs80338944 GRCh38 Chromosome 13, 20189351: 20189351
37 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh37 Chromosome 13, 20763650: 20763650
38 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh38 Chromosome 13, 20189511: 20189511
39 GJB2 NM_004004.5(GJB2): c.229T> C (p.Trp77Arg) single nucleotide variant Pathogenic rs104894397 GRCh37 Chromosome 13, 20763492: 20763492
40 GJB2 NM_004004.5(GJB2): c.229T> C (p.Trp77Arg) single nucleotide variant Pathogenic rs104894397 GRCh38 Chromosome 13, 20189353: 20189353
41 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
42 GJB2 NM_004004.5(GJB2): c.551G> C (p.Arg184Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338950 GRCh37 Chromosome 13, 20763170: 20763170
43 GJB2 NM_004004.5(GJB2): c.551G> C (p.Arg184Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338950 GRCh38 Chromosome 13, 20189031: 20189031
44 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh38 Chromosome 13, 20189547: 20189547
45 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
46 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh38 Chromosome 13, 20189443: 20189443
47 GJB2 NM_004004.5(GJB2): c.358_360delGAG (p.Glu120del) deletion Pathogenic rs80338947 GRCh37 Chromosome 13, 20763361: 20763363
48 GJB2 NM_004004.5(GJB2): c.358_360delGAG (p.Glu120del) deletion Pathogenic rs80338947 GRCh38 Chromosome 13, 20189222: 20189224
49 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh37 Chromosome 13, 20763294: 20763294
50 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh38 Chromosome 13, 20189155: 20189155

Expression for Non-Syndromic Genetic Deafness

Search GEO for disease gene expression data for Non-Syndromic Genetic Deafness.

Pathways for Non-Syndromic Genetic Deafness

GO Terms for Non-Syndromic Genetic Deafness

Cellular components related to Non-Syndromic Genetic Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.46 MARVELD2 OTOA RDX USH2A
2 stereocilium tip GO:0032426 9.26 STRC TMC1
3 stereocilium GO:0032420 9.02 LOXHD1 MYO15A RDX STRC TRIOBP
4 stereocilium bundle GO:0032421 8.96 MYO15A USH2A

Biological processes related to Non-Syndromic Genetic Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.55 COCH GJB2 GSDME KCNQ4 LOXHD1 MARVELD2
2 cell-matrix adhesion GO:0007160 9.54 OTOA STRC TECTA
3 establishment of endothelial barrier GO:0061028 9.4 MARVELD2 RDX
4 barbed-end actin filament capping GO:0051016 9.32 RDX TRIOBP
5 auditory receptor cell stereocilium organization GO:0060088 9.26 STRC TRIOBP
6 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.16 STRC TMC1
7 inner ear receptor cell differentiation GO:0060113 8.96 GSDME USH2A

Sources for Non-Syndromic Genetic Deafness

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
Content
Loading form....