MCID: NNS044
MIFTS: 25

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 60
Isolated Genetic Deafness 60

Characteristics:

Orphanet epidemiological data:

60
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:

ICD10 via Orphanet 35 H90.5
Orphanet 60 ORPHA87884

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 MYO3A (Myosin IIIA), and among its related pathways/superpathways are Actin Nucleation by ARP-WASP Complex and RhoGDI Pathway. Related phenotypes are behavior/neurological and hearing/vestibular/ear

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 44)
# Related Disease Score Top Affiliating Genes
1 deafness, x-linked 2 32.0 GJB2 POU3F4
2 prelingual non-syndromic genetic deafness 12.4
3 postlingual non-syndromic genetic deafness 12.4
4 deafness, autosomal recessive 77 10.4 MYO3A PJVK
5 deafness, autosomal dominant 1 10.4 MYO3A WFS1
6 auditory neuropathy spectrum disorder 10.4 OTOF PJVK
7 deafness, autosomal recessive 3 10.4 GJB2 MYO15A
8 deafness, autosomal recessive 28 10.3 GJB2 TRIOBP
9 deafness, autosomal recessive 21 10.3 GJB2 OTOG
10 deafness, autosomal recessive 35 10.3 COCH GRXCR1
11 deafness, autosomal recessive 85 10.3 MYO15A OTOF PJVK
12 deafness, autosomal recessive 83 10.3 MYO15A OTOF PJVK
13 deafness, autosomal recessive 59 10.3 GJB2 OTOF PJVK
14 auditory neuropathy, autosomal dominant, 1 10.3 GJB2 OTOF PJVK
15 deafness, autosomal recessive 9 10.3 GJB2 OTOF PJVK
16 dfnb1 10.3 GJB2 OTOF
17 deafness, autosomal dominant 11 10.3 MYO15A MYO6
18 hodgkin's lymphoma, nodular sclerosis 10.2 GJB2 MYO15A
19 deafness, autosomal dominant 48 10.2 MYH9 MYO15A MYO3A MYO6
20 deafness, autosomal dominant 17 10.2 MYH9 MYO15A MYO3A MYO6
21 autosomal dominant nonsyndromic deafness 10.2 COCH MYO6 WFS1
22 deafness, autosomal recessive 1a 10.2 GJB2 OTOF
23 deafness, autosomal recessive 49 10.2 GJB2 MARVELD2 POU3F4
24 deafness, autosomal recessive 26 10.2 GJB2 OTOF
25 deafness, autosomal recessive 37 10.2 MYH9 MYO15A MYO3A MYO6 TRIOBP
26 deafness, autosomal dominant 22 10.1 COCH MYH9 MYO15A MYO3A MYO6
27 deafness, autosomal recessive 2 10.1 GJB2 MYO15A MYO6 OTOF
28 deafness, autosomal dominant 2a 10.1 COCH GJB2 KCNQ4 WFS1
29 deafness, autosomal recessive 10.1 GIPC3 GRXCR1 MARVELD2 OTOF PJVK
30 deafness, autosomal recessive 16 10.1 COCH GJB2 OTOF WFS1
31 deafness, autosomal dominant 6 10.1 COCH GJB2 OTOF WFS1
32 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.1 COCH GJB2 OTOF WFS1
33 deafness, autosomal recessive 6 10.1 GJB2 USH2A
34 deafness, autosomal recessive 30 10.1 GJB2 MYH9 MYO15A MYO3A MYO6
35 inner ear disease 10.0 COCH GJB2 KCNQ4 MYH9 WFS1
36 vestibular disease 10.0 COCH GJB2
37 autosomal recessive nonsyndromic deafness 10.0 GIPC3 GJB2 MYO15A OTOF OTOG TRIOBP
38 autosomal recessive nonsyndromic deafness 3 9.9 GJB2 MYH9 MYO15A MYO3A MYO6 OTOF
39 deafness, autosomal dominant 13 9.8 COCH GJB2 OTOF OTOG USH2A WFS1
40 auditory system disease 9.8 COCH GJB2 KCNQ4 MYH9 MYO15A OTOF
41 branchiootic syndrome 1 9.8 GJB2 GRXCR1 MARVELD2 OTOF OTOG PJVK
42 sensorineural hearing loss 9.2 COCH GIPC3 GJB2 KARS KCNQ4 MYH9
43 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.1 GIPC3 GJB2 GRXCR1 KARS MARVELD2 MYH9
44 nonsyndromic deafness 8.3 CEACAM16 COCH GIPC3 GJB2 GRXCR1 KARS

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 GIPC3 GRXCR1 MARVELD2 MYO15A MYO3A MYO6
2 hearing/vestibular/ear MP:0005377 9.91 CEACAM16 COCH GIPC3 GJB2 GRXCR1 KCNQ4
3 nervous system MP:0003631 9.53 GIPC3 GJB2 GRXCR1 KCNQ4 MARVELD2 MYH9

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 598)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.647_650delGATA (p.Arg216Ilefs) deletion Pathogenic/Likely pathogenic rs587783647 GRCh37 Chromosome 13, 20763071: 20763074
2 GJB2 NM_004004.5(GJB2): c.647_650delGATA (p.Arg216Ilefs) deletion Pathogenic/Likely pathogenic rs587783647 GRCh38 Chromosome 13, 20188932: 20188935
3 GJB2 NM_004004.5(GJB2): c.298C> T (p.His100Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs143343083 GRCh37 Chromosome 13, 20763423: 20763423
4 GJB2 NM_004004.5(GJB2): c.298C> T (p.His100Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs143343083 GRCh38 Chromosome 13, 20189284: 20189284
5 KCNQ4 NM_004700.3(KCNQ4): c.459delC (p.Ala154Profs) deletion Pathogenic rs727504635 GRCh38 Chromosome 1, 40818217: 40818217
6 KCNQ4 NM_004700.3(KCNQ4): c.459delC (p.Ala154Profs) deletion Pathogenic rs727504635 GRCh37 Chromosome 1, 41283889: 41283889
7 OTOF NM_194248.2(OTOF): c.3178delG (p.Ala1060Glnfs) deletion Pathogenic rs727504639 GRCh38 Chromosome 2, 26474623: 26474623
8 OTOF NM_194248.2(OTOF): c.3178delG (p.Ala1060Glnfs) deletion Pathogenic rs727504639 GRCh37 Chromosome 2, 26697491: 26697491
9 OTOF NM_194248.2(OTOF): c.2991+2T> G single nucleotide variant Pathogenic rs370132645 GRCh38 Chromosome 2, 26475912: 26475912
10 OTOF NM_194248.2(OTOF): c.2991+2T> G single nucleotide variant Pathogenic rs370132645 GRCh37 Chromosome 2, 26698780: 26698780
11 OTOF NM_194248.2(OTOF): c.2818C> T (p.Gln940Ter) single nucleotide variant Pathogenic rs727504936 GRCh38 Chromosome 2, 26476176: 26476176
12 OTOF NM_194248.2(OTOF): c.2818C> T (p.Gln940Ter) single nucleotide variant Pathogenic rs727504936 GRCh37 Chromosome 2, 26699044: 26699044
13 OTOF NM_194323.2(OTOF): c.3624delG (p.Leu1209Cysfs) deletion Likely pathogenic rs727505359 GRCh37 Chromosome 2, 26680977: 26680977
14 OTOF NM_194323.2(OTOF): c.3624delG (p.Leu1209Cysfs) deletion Likely pathogenic rs727505359 GRCh38 Chromosome 2, 26458109: 26458109
15 OTOF NM_194248.2(OTOF): c.5925delG (p.Leu1976Serfs) deletion Likely pathogenic rs111033384 GRCh38 Chromosome 2, 26460094: 26460094
16 OTOF NM_194248.2(OTOF): c.5925delG (p.Leu1976Serfs) deletion Likely pathogenic rs111033384 GRCh37 Chromosome 2, 26682962: 26682962
17 OTOF NM_194248.2(OTOF): c.5203delC (p.Arg1735Glyfs) deletion Pathogenic rs727503352 GRCh37 Chromosome 2, 26685039: 26685039
18 OTOF NM_194248.2(OTOF): c.5203delC (p.Arg1735Glyfs) deletion Pathogenic rs727503352 GRCh38 Chromosome 2, 26462171: 26462171
19 OTOF NM_194248.2(OTOF): c.4799+1G> A single nucleotide variant Pathogenic rs200147906 GRCh37 Chromosome 2, 26688539: 26688539
20 OTOF NM_194248.2(OTOF): c.4799+1G> A single nucleotide variant Pathogenic rs200147906 GRCh38 Chromosome 2, 26465671: 26465671
21 OTOF NM_194248.2(OTOF): c.2977_2978delAG (p.Gln994Valfs) deletion Pathogenic rs397515597 GRCh37 Chromosome 2, 26698795: 26698796
22 OTOF NM_194248.2(OTOF): c.2977_2978delAG (p.Gln994Valfs) deletion Pathogenic rs397515597 GRCh38 Chromosome 2, 26475927: 26475928
23 MYO6 NM_004999.4(MYO6): c.238C> T (p.Arg80Ter) single nucleotide variant Likely pathogenic rs727504567 GRCh37 Chromosome 6, 76538307: 76538307
24 MYO6 NM_004999.4(MYO6): c.238C> T (p.Arg80Ter) single nucleotide variant Likely pathogenic rs727504567 GRCh38 Chromosome 6, 75828590: 75828590
25 MYO6 NM_004999.3(MYO6): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs727503326 GRCh37 Chromosome 6, 76554623: 76554623
26 MYO6 NM_004999.3(MYO6): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs727503326 GRCh38 Chromosome 6, 75844906: 75844906
27 MYO6 NM_004999.3(MYO6): c.1383G> C (p.Glu461Asp) single nucleotide variant Likely pathogenic rs727504548 GRCh37 Chromosome 6, 76568620: 76568620
28 MYO6 NM_004999.3(MYO6): c.1383G> C (p.Glu461Asp) single nucleotide variant Likely pathogenic rs727504548 GRCh38 Chromosome 6, 75858903: 75858903
29 MYO6 NM_004999.4(MYO6): c.2836C> T (p.Arg946Cys) single nucleotide variant Likely benign rs141845119 GRCh37 Chromosome 6, 76599951: 76599951
30 MYO6 NM_004999.4(MYO6): c.2836C> T (p.Arg946Cys) single nucleotide variant Likely benign rs141845119 GRCh38 Chromosome 6, 75890234: 75890234
31 MYO6 NM_004999.3(MYO6) indel Likely pathogenic rs727505015 GRCh38 Chromosome 6, 75907635: 75907640
32 MYO6 NM_004999.3(MYO6) indel Likely pathogenic rs727505015 GRCh37 Chromosome 6, 76617352: 76617357
33 SLC26A5 NM_206883.2(SLC26A5): c.1514+1G> A single nucleotide variant not provided rs727504481 GRCh37 Chromosome 7, 103029454: 103029454
34 SLC26A5 NM_206883.2(SLC26A5): c.1514+1G> A single nucleotide variant not provided rs727504481 GRCh38 Chromosome 7, 103389007: 103389007
35 GSDME NM_004403.2(GSDME): c.991-15_991-13delTTC deletion Pathogenic rs727505273 GRCh37 Chromosome 7, 24746008: 24746010
36 GSDME NM_004403.2(GSDME): c.991-15_991-13delTTC deletion Pathogenic rs727505273 GRCh38 Chromosome 7, 24706389: 24706391
37 EYA4 NM_004100.4: c.724_(804_?)del deletion Conflicting interpretations of pathogenicity GRCh37 Chromosome 6, 133783902: 133785996
38 EYA4 NM_004100.4: c.724_(804_?)del deletion Conflicting interpretations of pathogenicity GRCh38 Chromosome 6, 133462764: 133464858
39 TMC1 NM_138691.2(TMC1): c.1333C> T (p.Arg445Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs372710475 GRCh38 Chromosome 9, 72791994: 72791994
40 TMC1 NM_138691.2(TMC1): c.1333C> T (p.Arg445Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs372710475 GRCh37 Chromosome 9, 75406910: 75406910
41 LRTOMT NM_001145308.4(LRTOMT): c.358+4A> C single nucleotide variant Likely pathogenic rs545947177 GRCh37 Chromosome 11, 71817260: 71817260
42 LRTOMT NM_001145308.4(LRTOMT): c.358+4A> C single nucleotide variant Likely pathogenic rs545947177 GRCh38 Chromosome 11, 72106214: 72106214
43 TMC1 NM_138691.2(TMC1): c.22delA (p.Ile8Serfs) deletion Pathogenic rs727504554 GRCh38 Chromosome 9, 72688714: 72688714
44 TMC1 NM_138691.2(TMC1): c.22delA (p.Ile8Serfs) deletion Pathogenic rs727504554 GRCh37 Chromosome 9, 75303630: 75303630
45 TECTA NM_005422.2(TECTA): c.701A> G (p.Gln234Arg) single nucleotide variant Likely benign rs144682235 GRCh38 Chromosome 11, 121113629: 121113629
46 TECTA NM_005422.2(TECTA): c.701A> G (p.Gln234Arg) single nucleotide variant Likely benign rs144682235 GRCh37 Chromosome 11, 120984338: 120984338
47 TECTA NM_005422.2(TECTA): c.1436C> T (p.Pro479Leu) single nucleotide variant Benign rs35107075 GRCh37 Chromosome 11, 120996243: 120996243
48 TECTA NM_005422.2(TECTA): c.1436C> T (p.Pro479Leu) single nucleotide variant Benign rs35107075 GRCh38 Chromosome 11, 121125534: 121125534
49 TECTA NM_005422.2(TECTA): c.6155G> A (p.Cys2052Tyr) single nucleotide variant Likely pathogenic rs727503467 GRCh37 Chromosome 11, 121058696: 121058696
50 TECTA NM_005422.2(TECTA): c.6155G> A (p.Cys2052Tyr) single nucleotide variant Likely pathogenic rs727503467 GRCh38 Chromosome 11, 121187987: 121187987

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 cell projection GO:0042995 9.85 GRXCR1 MYO15A MYO3A MYO6 RDX USH2A
2 apical plasma membrane GO:0016324 9.73 MARVELD2 OTOG RDX USH2A
3 ruffle GO:0001726 9.5 MYH9 MYO6 RDX
4 filamentous actin GO:0031941 9.46 MYO3A MYO6
5 stereocilium tip GO:0032426 9.4 CEACAM16 MYO3A
6 microvillus GO:0005902 9.33 GRXCR1 MYO6 RDX
7 stereocilium bundle GO:0032421 9.26 MYO15A USH2A
8 myosin complex GO:0016459 9.26 MYH9 MYO15A MYO3A MYO6
9 stereocilium GO:0032420 8.92 GRXCR1 MYO15A MYO3A RDX

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 KCNQ4 MARVELD2
3 cochlea morphogenesis GO:0090103 9.32 MYO3A POU3F4
4 actin filament-based movement GO:0030048 9.26 MYH9 MYO6
5 establishment of endothelial barrier GO:0061028 9.16 MARVELD2 RDX
6 barbed-end actin filament capping GO:0051016 8.96 RDX TRIOBP

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 9.65 MYH9 MYO15A MYO3A MYO6 RDX
2 microfilament motor activity GO:0000146 9.37 MYH9 MYO3A
3 ADP binding GO:0043531 9.33 MYH9 MYO3A MYO6
4 actin-dependent ATPase activity GO:0030898 9.32 MYH9 MYO3A
5 motor activity GO:0003774 9.26 MYH9 MYO15A MYO3A MYO6
6 calmodulin binding GO:0005516 9.1 KCNQ4 MYH9 MYO15A MYO3A MYO6 WFS1

Sources for Non-Syndromic Genetic Deafness

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
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45 MeSH
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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
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