MCID: ATS252
MIFTS: 26

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Categories: Ear diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

MalaCards integrated aliases for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb:

Name: Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb 59 6
Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb 59
Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb 59
Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb 59

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive non-syndromic sensorineural deafness type dfnb
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA90636
ICD10 via Orphanet 34 H90.3

Summaries for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

MalaCards based summary : Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb, also known as autosomal recessive non-syndromic neurosensory deafness type dfnb, is related to deafness, autosomal dominant 48 and auditory neuropathy spectrum disorder. An important gene associated with Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb is GPSM2 (G Protein Signaling Modulator 2), and among its related pathways/superpathways is Cytoskeleton remodeling_RalA regulation pathway. Related phenotypes are behavior/neurological and hearing/vestibular/ear

Related Diseases for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

Diseases related to Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 48 11.2 MYH9 MYO6 MYO7A
2 auditory neuropathy spectrum disorder 11.2 MYO7A OTOF PJVK
3 deafness, autosomal dominant 22 11.2 MYH9 MYO6 MYO7A
4 deafness, autosomal recessive 23 11.2 MYO7A PCDH15 SLC26A4
5 deafness, autosomal recessive 37 11.2 MYH9 MYO6 MYO7A
6 deafness, autosomal recessive 30 11.1 MYH9 MYO6 MYO7A SLC26A4
7 dfnb1 11.1 MYO7A OTOF PCDH15
8 deafness, autosomal dominant 17 11.1 MYH9 MYO6 MYO7A
9 deafness, autosomal recessive 2 11.1 MYO6 MYO7A OTOF
10 deafness, autosomal recessive 16 11.1 MYO7A OTOF SLC26A4
11 inner ear disease 11.1 MYH9 MYO7A SLC26A4
12 deafness, autosomal dominant 6 11.1 MYO7A OTOF SLC26A4
13 autosomal dominant non-syndromic sensorineural deafness type dfna 11.1 MYH9 MYO6 MYO7A
14 autosomal recessive nonsyndromic deafness 11.1 GPSM2 OTOF OTOG PNPT1 SLC26A4
15 usher syndrome, type ig 11.1 MYO7A PCDH15
16 deafness, autosomal recessive 77 11.1 LOXHD1 PJVK
17 deafness, autosomal recessive 59 11.1 OTOF PJVK
18 retinitis pigmentosa-deafness syndrome 11.1 MYO7A PCDH15
19 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 11.1 MYO7A OTOF SLC26A4
20 auditory system disease 11.1 MYH9 MYO7A OTOF PCDH15 SLC26A4
21 deafness, autosomal dominant 13 11.1 MYO7A OTOF OTOG OTOGL SLC26A4
22 autosomal recessive nonsyndromic deafness 3 11.0 MYH9 MYO6 MYO7A OTOF PJVK SLC26A4
23 usher syndrome, type if 11.0 MYO7A PCDH15
24 auditory neuropathy, autosomal dominant, 1 11.0 OTOF PJVK
25 deafness, autosomal recessive 85 11.0 GPSM2 MYO7A OTOA OTOF PJVK PTPRQ
26 deafness, autosomal recessive 83 11.0 GPSM2 MYO7A OTOA OTOF PJVK PTPRQ
27 deafness, autosomal recessive 9 11.0 OTOF PJVK
28 autosomal dominant nonsyndromic deafness 10.9 MYH9 MYO6 MYO7A OTOF OTOG OTOGL
29 deafness, autosomal dominant 11 10.9 MYO6 MYO7A
30 sensorineural hearing loss 10.9 MYH9 MYO6 MYO7A OTOF PCDH15 SERPINB6
31 deafness, autosomal dominant 12 10.9 OTOG OTOGL
32 non-syndromic genetic deafness 10.9 LOXHD1 MYH9 MYO6 OTOA OTOF OTOG
33 deafness, autosomal recessive 26 10.8 OTOF SLC26A4
34 deafness, autosomal recessive 10.8 LOXHD1 MYO6 OTOA OTOF PCDH15 PJVK
35 usher syndrome, type id 10.7 MYO7A PCDH15
36 nonsyndromic deafness 10.5 GPSM2 LOXHD1 MYH9 MYO6 MYO7A OTOA
37 deafness, autosomal recessive 12 10.4 MYO7A PCDH15

Graphical network of the top 20 diseases related to Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb:



Diseases related to Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Symptoms & Phenotypes for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

MGI Mouse Phenotypes related to Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 GPSM2 MYO6 MYO7A OTOF OTOG PCDH15
2 hearing/vestibular/ear MP:0005377 9.86 GPSM2 MYH9 MYO6 MYO7A OTOA OTOF
3 nervous system MP:0003631 9.53 GPSM2 MYH9 MYO6 MYO7A OTOA OTOF

Drugs & Therapeutics for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Genetic Tests for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

Anatomical Context for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

Publications for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

Variations for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

ClinVar genetic disease variations for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 GPSM2 NM_013296.4(GPSM2): c.379C> T (p.Arg127Ter) single nucleotide variant Pathogenic rs267606854 GRCh37 Chromosome 1, 109440214: 109440214
2 GPSM2 NM_013296.4(GPSM2): c.379C> T (p.Arg127Ter) single nucleotide variant Pathogenic rs267606854 GRCh38 Chromosome 1, 108897592: 108897592
3 SLC26A4 NM_000441.1(SLC26A4): c.1164dupT (p.Gly389Trpfs) duplication Pathogenic GRCh38 Chromosome 7, 107690138: 107690138
4 SLC26A4 NM_000441.1(SLC26A4): c.1164dupT (p.Gly389Trpfs) duplication Pathogenic GRCh37 Chromosome 7, 107330583: 107330583
5 GPSM2 NM_013296.4(GPSM2): c.977G> A (p.Trp326Ter) single nucleotide variant Pathogenic rs1060499797 GRCh37 Chromosome 1, 109445771: 109445771
6 GPSM2 NM_013296.4(GPSM2): c.977G> A (p.Trp326Ter) single nucleotide variant Pathogenic rs1060499797 GRCh38 Chromosome 1, 108903149: 108903149
7 MYH9 NM_002473.5(MYH9): c.5137A> G (p.Ser1713Gly) single nucleotide variant Pathogenic rs764139009 GRCh37 Chromosome 22, 36681924: 36681924
8 MYH9 NM_002473.5(MYH9): c.5137A> G (p.Ser1713Gly) single nucleotide variant Pathogenic rs764139009 GRCh38 Chromosome 22, 36285878: 36285878
9 LOXHD1 NM_144612.6(LOXHD1): c.3061+1G> A single nucleotide variant Pathogenic rs537227442 GRCh37 Chromosome 18, 44140045: 44140045
10 LOXHD1 NM_144612.6(LOXHD1): c.3061+1G> A single nucleotide variant Pathogenic rs537227442 GRCh38 Chromosome 18, 46560082: 46560082
11 PCDH15 NM_033056.3(PCDH15): c.3101G> A (p.Arg1034His) single nucleotide variant no interpretation for the single variant rs907693214 GRCh38 Chromosome 10, 53959753: 53959753
12 PCDH15 NM_033056.3(PCDH15): c.3101G> A (p.Arg1034His) single nucleotide variant no interpretation for the single variant rs907693214 GRCh37 Chromosome 10, 55719513: 55719513
13 USH1G NM_173477.4(USH1G): c.1093G> A (p.Asp365Asn) single nucleotide variant no interpretation for the single variant rs538983393 GRCh38 Chromosome 17, 74919743: 74919743
14 USH1G NM_173477.4(USH1G): c.1093G> A (p.Asp365Asn) single nucleotide variant no interpretation for the single variant rs538983393 GRCh37 Chromosome 17, 72915838: 72915838

Expression for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

Search GEO for disease gene expression data for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb.

Pathways for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

Pathways related to Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.47 MYH9 MYO6 MYO7A RDX

GO Terms for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

Cellular components related to Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ruffle GO:0001726 9.63 MYH9 MYO6 RDX
2 microvillus GO:0005902 9.58 MYO6 MYO7A RDX
3 cell cortex GO:0005938 9.56 GPSM2 MYH9 MYO6 MYO7A
4 myosin complex GO:0016459 9.54 MYH9 MYO6 MYO7A
5 stereocilium bundle GO:0032421 9.43 PCDH15 PTPRQ
6 apical plasma membrane GO:0016324 9.43 MYO7A OTOA OTOG RDX RIPOR2 SLC26A4
7 stereocilium GO:0032420 9.02 LOXHD1 MYO7A PCDH15 RDX RIPOR2
8 membrane GO:0016020 10.22 GPSM2 LOXHD1 MYH9 MYO6 OTOA OTOF
9 plasma membrane GO:0005886 10 GPSM2 MYH9 MYO6 OTOA OTOF OTOG

Biological processes related to Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 microtubule-based movement GO:0007018 9.71 MYH9 MYO6 MYO7A
2 inner ear morphogenesis GO:0042472 9.61 MYO7A PTPRQ SLITRK6
3 adult locomotory behavior GO:0008344 9.58 OTOG OTOGL SLITRK6
4 inner ear development GO:0048839 9.54 MYO7A PCDH15 ROR1
5 inner ear receptor cell stereocilium organization GO:0060122 9.52 MYO7A PCDH15
6 startle response GO:0001964 9.51 PCDH15 SLITRK6
7 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.49 PCDH15 PTPRQ
8 sensory perception of light stimulus GO:0050953 9.48 MYO7A PCDH15
9 sensory perception of sound GO:0007605 9.47 LOXHD1 MYO6 MYO7A OTOA OTOF OTOG
10 inner ear auditory receptor cell differentiation GO:0042491 9.46 MYO7A PCDH15
11 actin filament-based movement GO:0030048 9.33 MYH9 MYO6 MYO7A
12 equilibrioception GO:0050957 9.32 MYO7A PCDH15
13 L-arabinose metabolic process GO:0046373 9.26 OTOG OTOGL
14 auditory receptor cell stereocilium organization GO:0060088 9.13 MYO7A PCDH15 RIPOR2

Molecular functions related to Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.73 MYH9 MYO6 MYO7A RDX
2 microtubule motor activity GO:0003777 9.58 MYH9 MYO6 MYO7A
3 protein domain specific binding GO:0019904 9.56 GPSM2 MYH9 MYO7A RDX
4 motor activity GO:0003774 9.5 MYH9 MYO6 MYO7A
5 microfilament motor activity GO:0000146 9.37 MYH9 MYO7A
6 actin-dependent ATPase activity GO:0030898 9.16 MYH9 MYO7A
7 ADP binding GO:0043531 9.13 MYH9 MYO6 MYO7A
8 alpha-L-arabinofuranosidase activity GO:0046556 8.62 OTOG OTOGL

Sources for Autosomal Recessive Non-Syndromic Sensorineural Deafness Type...

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17 ExPASy
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