MCID: NNS044
MIFTS: 23

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 deafness, x-linked 2 and prelingual non-syndromic genetic deafness. An important gene associated with Non-Syndromic Genetic Deafness is MYO15A (Myosin XVA), and among its related pathways/superpathways are Cytoskeleton remodeling_RalA regulation pathway and Cytoskeleton remodeling_RalB regulation pathway. 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 43)
# Related Disease Score Top Affiliating Genes
1 deafness, x-linked 2 31.9 GJB2 POU3F4
2 prelingual non-syndromic genetic deafness 12.4
3 postlingual non-syndromic genetic deafness 12.4
4 deafness, autosomal recessive 3 10.3 GJB2 MYO15A
5 deafness, autosomal dominant 9 10.2 COCH GSDME
6 deafness, autosomal recessive 59 10.2 GJB2 OTOF
7 deafness, autosomal dominant 11 10.2 GSDME MYO15A MYO6
8 deafness, autosomal recessive 28 10.2 GJB2 TRIOBP
9 deafness, autosomal recessive 35 10.2 COCH GRXCR1
10 deafness, autosomal dominant 48 10.2 MYH9 MYO15A MYO6
11 hodgkin's lymphoma, nodular sclerosis 10.2 GJB2 MYO15A
12 deafness, autosomal recessive 21 10.2 GJB2 OTOG
13 auditory neuropathy, autosomal dominant, 1 10.2 GJB2 OTOF
14 deafness, autosomal recessive 85 10.2 MYO15A OTOA OTOF
15 deafness, autosomal recessive 83 10.2 MYO15A OTOA OTOF
16 dfnb1 10.2 GJB2 OTOF
17 deafness, autosomal recessive 9 10.2 GJB2 OTOF
18 deafness, autosomal dominant 12 10.2 GSDME OTOG
19 deafness, autosomal dominant 22 10.2 COCH MYH9 MYO15A MYO6
20 deafness, autosomal dominant 17 10.2 GSDME MYH9 MYO15A MYO6
21 deafness, autosomal recessive 37 10.2 MYH9 MYO15A MYO6 TRIOBP
22 deafness, autosomal recessive 1a 10.1 GJB2 OTOF
23 deafness, autosomal recessive 49 10.1 GJB2 MARVELD2 POU3F4
24 deafness, autosomal recessive 2 10.1 GJB2 MYO15A MYO6 OTOF
25 deafness, autosomal recessive 26 10.1 GJB2 OTOF
26 deafness, autosomal recessive 30 10.1 GJB2 MYH9 MYO15A MYO6
27 deafness, autosomal dominant 2a 10.1 COCH GJB2 KCNQ4 WFS1
28 deafness, autosomal recessive 16 10.1 COCH GJB2 OTOF WFS1
29 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.1 COCH GJB2 OTOF WFS1
30 autosomal recessive nonsyndromic deafness 3 10.1 GJB2 MYH9 MYO15A MYO6 OTOF
31 deafness, autosomal recessive 6 10.0 GJB2 USH2A
32 deafness, autosomal dominant 6 10.0 COCH GJB2 GSDME OTOF WFS1
33 vestibular disease 10.0 COCH GJB2
34 inner ear disease 10.0 COCH GJB2 KCNQ4 MYH9 WFS1
35 autosomal recessive nonsyndromic deafness 10.0 GIPC3 GJB2 MYO15A OTOF OTOG TRIOBP
36 auditory system disease 9.9 COCH GJB2 KCNQ4 MYH9 MYO15A OTOF
37 branchiootic syndrome 1 9.9 GJB2 GRXCR1 MARVELD2 OTOF OTOG USH2A
38 deafness, autosomal dominant 13 9.8 COCH GJB2 GSDME OTOF OTOG USH2A
39 deafness, autosomal recessive 9.8 GIPC3 GRXCR1 KARS MARVELD2 MYO6 OTOA
40 autosomal dominant nonsyndromic deafness 9.6 CEACAM16 COCH GJB2 GSDME KCNQ4 MYH9
41 sensorineural hearing loss 9.4 COCH GIPC3 GJB2 GSDME KARS KCNQ4
42 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.4 GIPC3 GJB2 GRXCR1 KARS MARVELD2 MYH9
43 nonsyndromic deafness 8.8 CEACAM16 COCH GIPC3 GJB2 GRXCR1 GSDME

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 9.91 CEACAM16 COCH GIPC3 GJB2 GRXCR1 GSDME
2 behavior/neurological MP:0005386 9.9 CEACAM16 GIPC3 GRXCR1 MARVELD2 MYO15A MYO6
3 nervous system MP:0003631 9.53 GIPC3 GJB2 GRXCR1 GSDME KCNQ4 MARVELD2

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 595)
# 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 Pathogenic rs28937588 GRCh37 Chromosome 1, 41285565: 41285565
24 KCNQ4 NM_004700.3(KCNQ4): c.853G> A (p.Gly285Ser) single nucleotide variant 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.355G> A (p.Ala119Thr) single nucleotide variant Uncertain significance rs121908931 GRCh37 Chromosome 14, 31348132: 31348132
30 COCH NM_004086.2(COCH): c.355G> A (p.Ala119Thr) single nucleotide variant Uncertain significance rs121908931 GRCh38 Chromosome 14, 30878926: 30878926
31 COCH NM_004086.2(COCH): c.1625G> T (p.Cys542Phe) single nucleotide variant Pathogenic rs121908932 GRCh37 Chromosome 14, 31358969: 31358969
32 COCH NM_004086.2(COCH): c.1625G> T (p.Cys542Phe) single nucleotide variant Pathogenic rs121908932 GRCh38 Chromosome 14, 30889763: 30889763
33 MYO6 NM_004999.3(MYO6): c.737A> G (p.His246Arg) single nucleotide variant Likely pathogenic rs121912560 GRCh37 Chromosome 6, 76551016: 76551016
34 MYO6 NM_004999.3(MYO6): c.737A> G (p.His246Arg) single nucleotide variant Likely pathogenic rs121912560 GRCh38 Chromosome 6, 75841299: 75841299
35 MYO6 NM_004999.3(MYO6): c.2545C> T (p.Arg849Ter) single nucleotide variant Pathogenic rs121912561 GRCh37 Chromosome 6, 76596598: 76596598
36 MYO6 NM_004999.3(MYO6): c.2545C> T (p.Arg849Ter) single nucleotide variant Pathogenic rs121912561 GRCh38 Chromosome 6, 75886881: 75886881
37 GJB2 NM_004004.5(GJB2): c.101T> C (p.Met34Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs35887622 GRCh37 Chromosome 13, 20763620: 20763620
38 GJB2 NM_004004.5(GJB2): c.101T> C (p.Met34Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs35887622 GRCh38 Chromosome 13, 20189481: 20189481
39 GJB2 NM_004004.5(GJB2): c.231G> A (p.Trp77Ter) single nucleotide variant Pathogenic rs80338944 GRCh37 Chromosome 13, 20763490: 20763490
40 GJB2 NM_004004.5(GJB2): c.231G> A (p.Trp77Ter) single nucleotide variant Pathogenic rs80338944 GRCh38 Chromosome 13, 20189351: 20189351
41 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh37 Chromosome 13, 20763650: 20763650
42 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh38 Chromosome 13, 20189511: 20189511
43 GJB2 NM_004004.5(GJB2): c.229T> C (p.Trp77Arg) single nucleotide variant Pathogenic rs104894397 GRCh37 Chromosome 13, 20763492: 20763492
44 GJB2 NM_004004.5(GJB2): c.229T> C (p.Trp77Arg) single nucleotide variant Pathogenic rs104894397 GRCh38 Chromosome 13, 20189353: 20189353
45 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
46 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh38 Chromosome 13, 20189547: 20189547
47 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
48 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh38 Chromosome 13, 20189443: 20189443
49 GJB2 NM_004004.5(GJB2): c.358_360delGAG (p.Glu120del) deletion Pathogenic rs80338947 GRCh37 Chromosome 13, 20763361: 20763363
50 GJB2 NM_004004.5(GJB2): c.358_360delGAG (p.Glu120del) deletion Pathogenic rs80338947 GRCh38 Chromosome 13, 20189222: 20189224

Expression for Non-Syndromic Genetic Deafness

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

Pathways for Non-Syndromic Genetic Deafness

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

# Super pathways Score Top Affiliating Genes
1 10.47 MYH9 MYO15A MYO6 RDX
2 10.28 MYH9 MYO15A MYO6

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 ruffle GO:0001726 9.54 MYH9 MYO6 RDX
2 microvillus GO:0005902 9.43 GRXCR1 MYO6 RDX
3 myosin complex GO:0016459 9.33 MYH9 MYO15A MYO6
4 stereocilium bundle GO:0032421 9.32 MYO15A USH2A
5 stereocilium GO:0032420 9.13 GRXCR1 MYO15A RDX
6 apical plasma membrane GO:0016324 9.02 MARVELD2 OTOA OTOG RDX USH2A
7 plasma membrane GO:0005886 10.18 GJB2 GSDME KARS KCNQ4 MARVELD2 MYH9

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

# Name GO ID Score Top Affiliating Genes
1 regulation of cell shape GO:0008360 9.54 COCH MYH9 RDX
2 sensory perception of sound GO:0007605 9.53 CEACAM16 COCH GJB2 GRXCR1 GSDME KCNQ4
3 actin filament-based movement GO:0030048 9.32 MYH9 MYO6
4 establishment of endothelial barrier GO:0061028 9.26 MARVELD2 RDX
5 barbed-end actin filament capping GO:0051016 9.16 RDX TRIOBP
6 inner ear receptor cell differentiation GO:0060113 8.96 GSDME USH2A

Molecular functions related to Non-Syndromic Genetic Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.46 MYH9 MYO15A MYO6 RDX
2 motor activity GO:0003774 9.13 MYH9 MYO15A MYO6
3 calmodulin binding GO:0005516 9.02 KCNQ4 MYH9 MYO15A MYO6 WFS1

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
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44 MeSH
45 MESH via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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