MCID: ATS252
MIFTS: 29

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Categories: Ear diseases, Neuronal diseases, Rare 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 recessive 3 and retinitis pigmentosa-deafness syndrome. 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 are Actin Nucleation by ARP-WASP Complex and RhoGDI Pathway. Related phenotypes are Decreased viability and Decreased viability

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 47)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 3 10.4 MYO15A MYO7A
2 retinitis pigmentosa-deafness syndrome 10.4 MYO7A PCDH15 WHRN
3 deafness, autosomal dominant 48 10.4 MYH9 MYO15A MYO6 MYO7A
4 autosomal recessive nonsyndromic deafness 10.4 GPSM2 MYO15A OTOF SLC26A4 TRIOBP
5 deafness, autosomal dominant 11 10.4 MYO15A MYO6 MYO7A
6 deafness, autosomal dominant 22 10.4 MYH9 MYO15A MYO6 MYO7A
7 dfnb1 10.4 GJB6 MYO7A OTOF PCDH15
8 deafness, autosomal recessive 23 10.4 GJB6 MYO7A PCDH15 SLC26A4
9 deafness, autosomal dominant 17 10.4 MYH9 MYO15A MYO6 MYO7A
10 deafness, autosomal recessive 2 10.4 MYO15A MYO6 MYO7A OTOF
11 deafness, autosomal recessive 26 10.4 MET OTOF SLC26A4
12 deafness, autosomal recessive 37 10.3 MYH9 MYO15A MYO6 MYO7A TRIOBP
13 deafness, autosomal recessive 28 10.3 ESPN GJB3 TRIOBP
14 branchiootic syndrome 1 10.3 GPSM2 LOXHD1 MYO7A OTOF SLC26A4 WHRN
15 usher syndrome, type iid 10.3 MYO7A PCDH15 WHRN
16 deafness, autosomal recessive 85 10.3 GPSM2 LHFPL5 MYO15A MYO7A OTOF SLC26A4
17 deafness, autosomal recessive 83 10.3 GPSM2 LHFPL5 MYO15A MYO7A OTOF SLC26A4
18 usher syndrome, type iiia 10.3 MYO7A PCDH15 WHRN
19 autosomal recessive nonsyndromic deafness 3 10.3 MYH9 MYO15A MYO6 MYO7A OTOF SLC26A4
20 deafness, autosomal recessive 30 10.3 ESPN MYH9 MYO15A MYO6 MYO7A SLC26A4
21 hodgkin's lymphoma, nodular sclerosis 10.3 GJB3 GJB6 MYO15A SLC26A4 STRC
22 deafness, autosomal recessive 1a 10.3 GJB3 GJB6 OTOF
23 inner ear disease 10.3 GJB3 GJB6 MYH9 MYO7A SLC26A4
24 deafness, autosomal dominant 6 10.3 COL11A2 MYO7A OTOF SLC26A4 STRC
25 usher syndrome, type iic 10.3 MYO7A PCDH15 WHRN
26 vestibular disease 10.3 GJB3 GJB6 SLC26A4
27 usher syndrome, type i 10.3 ESPN MYO7A PCDH15 WHRN
28 deafness, autosomal dominant 13 10.3 COL11A2 MYO7A OTOF SLC26A4 STRC
29 usher syndrome type 2 10.3 MYO7A PCDH15 WHRN
30 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.3 GJB3 GJB6 MYO7A OTOF SLC26A4
31 auditory neuropathy spectrum disorder 10.3 MYO7A OTOF
32 deafness, autosomal recessive 53 10.3 COL11A2 LHFPL5
33 deafness, autosomal recessive 67 10.3 COL11A2 ESPN GJB3 LHFPL5
34 deafness, autosomal recessive 16 10.3 COL11A2 GJB6 MYO7A OTOF SLC26A4 STRC
35 autosomal dominant nonsyndromic deafness 10.3 COL11A2 GJB3 MYH9 MYO6 MYO7A OTOF
36 kid syndrome 10.3 GJB3 GJB6
37 usher syndrome, type ig 10.3 MYO7A PCDH15
38 pseudoainhum 10.3 GJB3 GJB6
39 non-syndromic genetic deafness 10.3 LOXHD1 MYH9 MYO15A MYO6 OTOF RDX
40 usher syndrome, type if 10.3 MYO7A PCDH15
41 auditory system disease 10.3 GJB3 GJB6 MYH9 MYO15A MYO7A OTOF
42 deafness, autosomal recessive 10.3 ESPN ESRRB GJB3 LHFPL5 LOXHD1 MYO6
43 deafness, autosomal recessive 66 10.2 COL11A2 LHFPL5
44 knuckle pads 10.2 GJB3 GJB6
45 sensorineural hearing loss 10.2 COL11A2 ESPN GJB3 GJB6 MYH9 MYO15A
46 usher syndrome, type id 10.1 MYO7A PCDH15
47 nonsyndromic deafness 10.1 COL11A2 ESPN GJB3 GJB6 GPSM2 LHFPL5

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...

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.1 RDX
2 Decreased viability GR00221-A-1 10.1 GPSM2
3 Decreased viability GR00221-A-2 10.1 GPSM2 OTOF
4 Decreased viability GR00301-A 10.1 GPSM2
5 Decreased viability GR00381-A-1 10.1 LOXHD1 MYO7A STRC
6 Decreased viability GR00402-S-2 10.1 COL11A2 ESPN ESRRB GJB3 GJB6 GPSM2
7 no effect GR00402-S-1 9.62 COL11A2 ESPN ESRRB GJB3 GJB6 GPSM2

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 10.19 COL11A2 ESPN ESRRB GJB6 GPSM2 LHFPL5
2 behavior/neurological MP:0005386 10.17 ESPN ESRRB GJB6 GPSM2 LHFPL5 MET
3 nervous system MP:0003631 10.06 ESPN GJB6 GPSM2 LHFPL5 MET MYH9
4 no phenotypic analysis MP:0003012 9.56 ESRRB GJB3 GJB6 GPSM2 MET MYH9
5 vision/eye MP:0005391 9.23 GPSM2 MET MYH9 MYO15A MYO6 MYO7A

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
# 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

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...

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:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.98 ESPN GPSM2 MYH9 MYO15A MYO7A RDX
2 cell projection GO:0042995 9.91 ESPN LOXHD1 MYO15A MYO6 RDX STRC
3 apical plasma membrane GO:0016324 9.8 GJB6 MYO7A RDX SLC26A4
4 cell cortex GO:0005938 9.71 GPSM2 MYH9 MYO6 MYO7A
5 ruffle GO:0001726 9.63 MYH9 MYO6 RDX
6 microvillus GO:0005902 9.56 ESPN MYO6 MYO7A RDX
7 connexin complex GO:0005922 9.51 GJB3 GJB6
8 stereocilium tip GO:0032426 9.5 ESPN STRC WHRN
9 myosin complex GO:0016459 9.46 MYH9 MYO15A MYO6 MYO7A
10 stereocilium GO:0032420 9.23 ESPN LOXHD1 MYO15A MYO7A PCDH15 RDX
11 stereocilium bundle GO:0032421 9.13 ESPN MYO15A WHRN
12 cytoplasm GO:0005737 10.34 ESPN ESRRB GJB3 GPSM2 MET MYH9
13 plasma membrane GO:0005886 10.26 GJB3 GJB6 GPSM2 LHFPL5 MET MYH9

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 locomotory behavior GO:0007626 9.65 ESPN MYO15A PCDH15
2 inner ear receptor cell stereocilium organization GO:0060122 9.54 MYO7A PCDH15 WHRN
3 actin filament-based movement GO:0030048 9.5 MYH9 MYO6 MYO7A
4 barbed-end actin filament capping GO:0051016 9.49 RDX TRIOBP
5 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.46 PCDH15 STRC
6 inner ear development GO:0048839 9.46 ESRRB GJB6 MYO7A PCDH15
7 sensory perception of sound GO:0007605 9.44 COL11A2 ESPN GJB6 LOXHD1 MYO15A MYO6
8 inner ear auditory receptor cell differentiation GO:0042491 9.43 MYO7A PCDH15
9 sensory perception of light stimulus GO:0050953 9.43 MYO7A PCDH15 WHRN
10 equilibrioception GO:0050957 9.4 MYO7A PCDH15
11 auditory receptor cell stereocilium organization GO:0060088 9.35 MYO7A PCDH15 STRC TRIOBP WHRN

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 protein domain specific binding GO:0019904 9.71 GPSM2 MYH9 MYO7A RDX
2 actin binding GO:0003779 9.65 MYH9 MYO15A MYO6 MYO7A RDX
3 calmodulin binding GO:0005516 9.62 MYH9 MYO15A MYO6 MYO7A
4 microfilament motor activity GO:0000146 9.43 MYH9 MYO7A
5 actin-dependent ATPase activity GO:0030898 9.37 MYH9 MYO7A
6 ADP binding GO:0043531 9.33 MYH9 MYO6 MYO7A
7 motor activity GO:0003774 9.26 MYH9 MYO15A MYO6 MYO7A
8 actin filament binding GO:0051015 9.02 ESPN MYH9 MYO6 MYO7A TRIOBP

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

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