MCID: NNS014
MIFTS: 28

Nonsyndromic Hearing Loss and Deafness malady

Categories: Genetic diseases, Ear diseases

Aliases & Classifications for Nonsyndromic Hearing Loss and Deafness

Aliases & Descriptions for Nonsyndromic Hearing Loss and Deafness:

Name: Nonsyndromic Hearing Loss and Deafness 24 29

Classifications:



Summaries for Nonsyndromic Hearing Loss and Deafness

MalaCards based summary : Nonsyndromic Hearing Loss and Deafness is related to dfnx1 nonsyndromic hearing loss and deafness and nonsyndromic hearing loss and deafness, mitochondrial. An important gene associated with Nonsyndromic Hearing Loss and Deafness is GJB6 (Gap Junction Protein Beta 6), and among its related pathways/superpathways is Gap junction trafficking. Related phenotypes are behavior/neurological and hearing/vestibular/ear

Related Diseases for Nonsyndromic Hearing Loss and Deafness

Diseases related to Nonsyndromic Hearing Loss and Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 146)
id Related Disease Score Top Affiliating Genes
1 dfnx1 nonsyndromic hearing loss and deafness 12.3
2 nonsyndromic hearing loss and deafness, mitochondrial 12.3
3 dfnb 7/11 nonsyndromic hearing loss and deafness 12.2
4 nonsyndromic hearing loss and deafness, dfna3 12.2
5 nonsyndromic hearing loss and deafness, dfnb1 12.2
6 dfnb 8/10 nonsyndromic hearing loss and deafness 12.2
7 dfna 3 nonsyndromic hearing loss and deafness 12.2
8 dfna13 nonsyndromic hearing loss and deafness 12.1
9 dfnb67 nonsyndromic hearing loss and deafness 12.1
10 dfnb 1 nonsyndromic hearing loss and deafness 12.1
11 dfna15 nonsyndromic hearing loss and deafness 12.1
12 dfnb28 nonsyndromic hearing loss and deafness 12.1
13 dfna17 nonsyndromic hearing loss and deafness 12.1
14 dfnb29 nonsyndromic hearing loss and deafness 12.1
15 dfnb30 nonsyndromic hearing loss and deafness 12.1
16 dfnb77 nonsyndromic hearing loss and deafness 12.1
17 nonsyndromic hearing loss and deafness, autosomal recessive 12.1
18 dfna22 nonsyndromic hearing loss and deafness 12.1
19 dfnb 3 nonsyndromic hearing loss and deafness 12.1
20 dfnb79 nonsyndromic hearing loss and deafness 12.1
21 dfna23 nonsyndromic hearing loss and deafness 12.1
22 dfnb 6 nonsyndromic hearing loss and deafness 12.1
23 dfnb35 nonsyndromic hearing loss and deafness 12.1
24 dfna 1 nonsyndromic hearing loss and deafness 12.1
25 dfnb36 nonsyndromic hearing loss and deafness 12.1
26 dfnb37 nonsyndromic hearing loss and deafness 12.1
27 dfna 4 nonsyndromic hearing loss and deafness 12.1
28 dfna36 nonsyndromic hearing loss and deafness 12.1
29 dfnb12 nonsyndromic hearing loss and deafness 12.1
30 dfnb39 nonsyndromic hearing loss and deafness 12.1
31 dfna 5 nonsyndromic hearing loss and deafness 12.1
32 dfnb16 nonsyndromic hearing loss and deafness 12.1
33 dfna44 nonsyndromic hearing loss and deafness 12.1
34 dfnb18 nonsyndromic hearing loss and deafness 12.1
35 dfnb49 nonsyndromic hearing loss and deafness 12.1
36 gjb2-related dfna 3 nonsyndromic hearing loss and deafness 12.1
37 dfna 8/12 nonsyndromic hearing loss and deafness 12.1
38 dfnb21 nonsyndromic hearing loss and deafness 12.1
39 gjb2-related dfnb 1 nonsyndromic hearing loss and deafness 12.1
40 dfnb22 nonsyndromic hearing loss and deafness 12.1
41 dfnb59 nonsyndromic hearing loss and deafness 12.1
42 gjb6-related dfna 3 nonsyndromic hearing loss and deafness 12.1
43 dfna10 nonsyndromic hearing loss and deafness 12.1
44 dfnb23 nonsyndromic hearing loss and deafness 12.1
45 gjb6-related dfnb 1 nonsyndromic hearing loss and deafness 12.1
46 dfnb24 nonsyndromic hearing loss and deafness 12.1
47 dfnb63 nonsyndromic hearing loss and deafness 12.1
48 dfna65 nonsyndromic hearing loss and deafness 12.1
49 dfna69 nonsyndromic hearing loss and deafness 12.1
50 dfnb25 nonsyndromic hearing loss and deafness 12.1

Graphical network of the top 20 diseases related to Nonsyndromic Hearing Loss and Deafness:



Diseases related to Nonsyndromic Hearing Loss and Deafness

Symptoms & Phenotypes for Nonsyndromic Hearing Loss and Deafness

MGI Mouse Phenotypes related to Nonsyndromic Hearing Loss and Deafness:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 TMPRSS3 MARVELD2 MYO15A MYO6 OTOF CEACAM16
2 hearing/vestibular/ear MP:0005377 9.93 MARVELD2 TRIOBP MYO15A MYO6 OTOA OTOF
3 nervous system MP:0003631 9.55 TMPRSS3 MARVELD2 TRIOBP MYO15A MYO6 OTOA

Drugs & Therapeutics for Nonsyndromic Hearing Loss and Deafness

Interventional clinical trials:


id Name Status NCT ID Phase
1 Epidemiology of Non-syndromic Dominant Deafness Completed NCT01150305
2 Non-Syndrome Hereditary Hearing Impairment - Gene Mapping: India/Pakistan Protocol Recruiting NCT00341874
3 Clinical and Genetic Analysis of Enlarged Vestibular Aqueducts Recruiting NCT00023036
4 Rate of Progression in USH2A Related Retinal Degeneration Recruiting NCT03146078
5 Genetic Analysis of Human Hereditary Hearing Impairment Terminated NCT00001606

Search NIH Clinical Center for Nonsyndromic Hearing Loss and Deafness

Genetic Tests for Nonsyndromic Hearing Loss and Deafness

Genetic tests related to Nonsyndromic Hearing Loss and Deafness:

id Genetic test Affiliating Genes
1 Nonsyndromic Hearing Loss and Deafness 29 24

Anatomical Context for Nonsyndromic Hearing Loss and Deafness

Publications for Nonsyndromic Hearing Loss and Deafness

Articles related to Nonsyndromic Hearing Loss and Deafness:

id Title Authors Year
1
Nonsyndromic Hearing Loss and Deafness, DFNB1 ( 20301449 )
1993
2
Nonsyndromic Hearing Loss and Deafness, DFNA3 ( 20301708 )
1993
3
DFNX1 Nonsyndromic Hearing Loss and Deafness ( 21834172 )
1993
4
Nonsyndromic Hearing Loss and Deafness, Mitochondrial ( 20301595 )
1993

Variations for Nonsyndromic Hearing Loss and Deafness

ClinVar genetic disease variations for Nonsyndromic Hearing Loss and Deafness:

6 (show top 50) (show all 130)
id Gene Variation Type Significance SNP ID Assembly Location
1 MARVELD2 NM_001038603.2(MARVELD2): c.1498C> T (p.Arg500Ter) single nucleotide variant Pathogenic rs118203957 GRCh37 Chromosome 5, 68728915: 68728915
2 DFNB59 NM_001042702.3(DFNB59): c.499C> T (p.Arg167Ter) single nucleotide variant Pathogenic rs118203989 GRCh37 Chromosome 2, 179320828: 179320828
3 TMC1 NM_138691.2(TMC1): c.1714G> A (p.Asp572Asn) single nucleotide variant Pathogenic rs121908072 GRCh37 Chromosome 9, 75431077: 75431077
4 TMC1 NM_138691.2(TMC1): c.100C> T (p.Arg34Ter) single nucleotide variant Pathogenic rs121908073 GRCh37 Chromosome 9, 75309494: 75309494
5 PCDH15 NM_033056.3(PCDH15): c.400C> G (p.Arg134Gly) single nucleotide variant Pathogenic/Likely pathogenic rs137853003 GRCh37 Chromosome 10, 56128954: 56128954
6 GJB6 NM_006783.4(GJB6): c.31G> A (p.Gly11Arg) single nucleotide variant Pathogenic rs104894415 GRCh37 Chromosome 13, 20797589: 20797589
7 OTOF NM_194248.2(OTOF): c.4491T> A (p.Tyr1497Ter) single nucleotide variant Pathogenic rs80356600 GRCh37 Chromosome 2, 26689591: 26689591
8 OTOF NM_194248.2(OTOF): c.2485C> T (p.Gln829Ter) single nucleotide variant Pathogenic rs80356593 GRCh37 Chromosome 2, 26700078: 26700078
9 KCNQ4 NM_004700.3(KCNQ4): c.853G> A (p.Gly285Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28937588 GRCh37 Chromosome 1, 41285565: 41285565
10 KCNQ4 NM_004700.3(KCNQ4): c.827G> C (p.Trp276Ser) single nucleotide variant Pathogenic rs80358277 GRCh37 Chromosome 1, 41285137: 41285137
11 COCH NM_004086.2(COCH): c.151C> T (p.Pro51Ser) single nucleotide variant Pathogenic rs28938175 GRCh37 Chromosome 14, 31346846: 31346846
12 COCH NM_004086.2(COCH): c.1625G> T (p.Cys542Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121908932 GRCh37 Chromosome 14, 31358969: 31358969
13 MYO6 NM_004999.3(MYO6): c.737A> G (p.His246Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121912560 GRCh37 Chromosome 6, 76551016: 76551016
14 GJB2 NM_004004.5(GJB2): c.231G> A (p.Trp77Ter) single nucleotide variant Pathogenic rs80338944 GRCh37 Chromosome 13, 20763490: 20763490
15 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh37 Chromosome 13, 20763650: 20763650
16 GJB2 NM_004004.5(GJB2): c.229T> C (p.Trp77Arg) single nucleotide variant Pathogenic rs104894397 GRCh37 Chromosome 13, 20763492: 20763492
17 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
18 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
19 GJB2 NM_004004.5(GJB2): c.358_360delGAG (p.Glu120del) deletion Pathogenic rs80338947 GRCh37 Chromosome 13, 20763361: 20763363
20 GJB2 NM_004004.5(GJB2): c.551G> C (p.Arg184Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338950 GRCh37 Chromosome 13, 20763170: 20763170
21 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh37 Chromosome 13, 20763294: 20763294
22 GJB2 NM_004004.5(GJB2): c.223C> T (p.Arg75Trp) single nucleotide variant Pathogenic rs104894402 GRCh37 Chromosome 13, 20763498: 20763498
23 GJB2 NM_004004.5(GJB2): c.235delC (p.Leu79Cysfs) deletion Pathogenic rs80338943 GRCh37 Chromosome 13, 20763486: 20763486
24 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
25 GJB2 NM_004004.5(GJB2): c.109G> A (p.Val37Ile) single nucleotide variant Pathogenic/Likely pathogenic rs72474224 GRCh37 Chromosome 13, 20763612: 20763612
26 GJB2 NM_004004.5(GJB2): c.224G> A (p.Arg75Gln) single nucleotide variant Pathogenic rs28931593 GRCh37 Chromosome 13, 20763497: 20763497
27 GJB2 NM_004004.5(GJB2): c.-23+1G> A single nucleotide variant Pathogenic rs80338940 GRCh37 Chromosome 13, 20766921: 20766921
28 GJB2 NM_004004.5(GJB2): c.250G> C (p.Val84Leu) single nucleotide variant Pathogenic rs104894409 GRCh37 Chromosome 13, 20763471: 20763471
29 GJB2 NM_004004.5(GJB2): c.250G> A (p.Val84Met) single nucleotide variant Pathogenic rs104894409 GRCh37 Chromosome 13, 20763471: 20763471
30 ACTG1 NM_001614.3(ACTG1): c.721G> A (p.Glu241Lys) single nucleotide variant Pathogenic/Likely pathogenic rs267606631 GRCh37 Chromosome 17, 79478295: 79478295
31 GJB2 NM_004004.5(GJB2): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic/Likely pathogenic rs1801002 GRCh37 Chromosome 13, 20763686: 20763686
32 OTOF NM_194248.2(OTOF): c.2122C> T (p.Arg708Ter) single nucleotide variant Pathogenic rs80356590 GRCh37 Chromosome 2, 26702224: 26702224
33 OTOF NM_194248.2(OTOF): c.2348delG (p.Gly783Alafs) deletion Pathogenic rs80356591 GRCh37 Chromosome 2, 26700342: 26700342
34 POU3F4 NM_000307.4(POU3F4): c.499C> T (p.Arg167Ter) single nucleotide variant Pathogenic rs111033345 GRCh37 Chromosome X, 82763831: 82763831
35 POU3F4 NM_000307.4(POU3F4): c.853_854delAT (p.Ile285Argfs) deletion Pathogenic rs397516336 GRCh37 Chromosome X, 82764185: 82764186
36 GJB2 NM_004004.5(GJB2): c.169C> T (p.Gln57Ter) single nucleotide variant Pathogenic rs111033297 GRCh37 Chromosome 13, 20763552: 20763552
37 GJB2 NM_004004.5(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 GRCh37 Chromosome 13, 20763438: 20763438
38 GJB2 NM_004004.5(GJB2): c.299_300delAT (p.His100Argfs) deletion Pathogenic rs111033204 GRCh37 Chromosome 13, 20763421: 20763422
39 GJB2 NM_004004.5(GJB2): c.313_326delAAGTTCATCAAGGG (p.Lys105Glyfs) deletion Pathogenic rs111033253 GRCh37 Chromosome 13, 20763395: 20763408
40 GJB2 NM_004004.5(GJB2): c.31_68del38 (p.Gly11Leufs) deletion Pathogenic/Likely pathogenic rs397516873 GRCh37 Chromosome 13, 20763653: 20763690
41 GJB2 NM_004004.5(GJB2): c.365A> T (p.Lys122Ile) single nucleotide variant Pathogenic/Likely pathogenic rs111033295 GRCh37 Chromosome 13, 20763356: 20763356
42 GJB2 NM_004004.5(GJB2): c.370C> T (p.Gln124Ter) single nucleotide variant Pathogenic rs397516874 GRCh37 Chromosome 13, 20763351: 20763351
43 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh37 Chromosome 13, 20763305: 20763305
44 GJB2 NM_004004.5(GJB2): c.426C> A (p.Phe142Leu) single nucleotide variant Pathogenic rs397516877 GRCh37 Chromosome 13, 20763295: 20763295
45 GJB2 NM_004004.5(GJB2): c.44A> C (p.Lys15Thr) single nucleotide variant Pathogenic/Likely pathogenic rs111033217 GRCh37 Chromosome 13, 20763677: 20763677
46 GJB2 NM_004004.5(GJB2) indel Pathogenic rs111033335 GRCh37 Chromosome 13, 20763121: 20763129
47 GJB2 NM_004004.5(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 GRCh37 Chromosome 13, 20763104: 20763104
48 GJB2 NM_004004.5(GJB2): c.95G> A (p.Arg32His) single nucleotide variant Pathogenic rs111033190 GRCh37 Chromosome 13, 20763626: 20763626
49 MYO15A NM_016239.3(MYO15A): c.7006dupC (p.Gln2336Profs) duplication Pathogenic rs397517286 GRCh37 Chromosome 17, 18052579: 18052579
50 MYO15A NM_016239.3(MYO15A): c.8100delC (p.Lys2701Argfs) deletion Pathogenic rs397517287 GRCh37 Chromosome 17, 18057456: 18057456

Expression for Nonsyndromic Hearing Loss and Deafness

Search GEO for disease gene expression data for Nonsyndromic Hearing Loss and Deafness.

Pathways for Nonsyndromic Hearing Loss and Deafness

Pathways related to Nonsyndromic Hearing Loss and Deafness according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.79 GJB2 GJB6 MYO6

GO Terms for Nonsyndromic Hearing Loss and Deafness

Cellular components related to Nonsyndromic Hearing Loss and Deafness according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.46 GJB6 MARVELD2 OTOA RDX
2 connexin complex GO:0005922 9.26 GJB2 GJB6
3 stereocilium tip GO:0032426 9.13 CEACAM16 STRC TMC1
4 stereocilium GO:0032420 8.92 LOXHD1 MYO15A RDX STRC

Biological processes related to Nonsyndromic Hearing Loss and Deafness according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.55 CEACAM16 COCH DFNA5 DFNB59 GJB2 GJB6
2 cell-matrix adhesion GO:0007160 9.5 OTOA STRC TECTA
3 establishment of endothelial barrier GO:0061028 9.37 MARVELD2 RDX
4 barbed-end actin filament capping GO:0051016 9.26 RDX TRIOBP
5 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.16 STRC TMC1
6 inner ear development GO:0048839 9.13 GJB2 GJB6 POU3F4

Sources for Nonsyndromic Hearing Loss and Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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