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 60 6
Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb 60
Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb 60
Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb 60

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive non-syndromic sensorineural deafness type dfnb
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 H90.3
Orphanet 60 ORPHA90636

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 PAK Pathway and Actin Nucleation by ARP-WASP Complex. Related phenotypes are no effect and behavior/neurological

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 42)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 3 10.6 MYO15A MYO7A
2 retinitis pigmentosa-deafness syndrome 10.6 MYO7A PCDH15 WHRN
3 hodgkin's lymphoma, nodular sclerosis 10.6 MYO15A SLC26A4 STRC
4 dfnb1 10.6 MYO7A OTOF PCDH15
5 deafness, autosomal recessive 23 10.5 MYO7A PCDH15 SLC26A4
6 deafness, autosomal recessive 26 10.5 MET OTOF SLC26A4
7 autosomal recessive nonsyndromic deafness 10.5 GPSM2 MYO15A OTOF SLC26A4 TRIOBP
8 usher syndrome 10.5 MYO7A PCDH15 WHRN
9 deafness, autosomal recessive 16 10.5 MYO7A OTOF SLC26A4 STRC
10 deafness, autosomal dominant 6 10.5 MYO7A OTOF SLC26A4 STRC
11 deafness, autosomal dominant 13 10.5 MYO7A OTOF SLC26A4 STRC
12 deafness, autosomal dominant 11 10.5 MYO15A MYO6 MYO7A
13 usher syndrome, type iid 10.5 MYO7A PCDH15 WHRN
14 deafness, autosomal recessive 10.5 ESRRB LOXHD1 MARVELD2 OTOF PCDH15 WHRN
15 usher syndrome, type iiia 10.5 MYO7A PCDH15 WHRN
16 inner ear disease 10.5 MYH9 MYO7A SLC26A4
17 deafness, autosomal recessive 2 10.5 MYO15A MYO6 MYO7A OTOF
18 usher syndrome, type i 10.5 ESPN MYO7A PCDH15 WHRN
19 usher syndrome, type iic 10.5 MYO7A PCDH15 WHRN
20 deafness, autosomal dominant 48 10.5 MYH9 MYO15A MYO3A MYO6 MYO7A
21 deafness, autosomal dominant 22 10.5 MYH9 MYO15A MYO3A MYO6 MYO7A
22 deafness, autosomal recessive 77 10.5 LOXHD1 MYO3A
23 deafness, autosomal dominant 17 10.5 MYH9 MYO15A MYO3A MYO6 MYO7A
24 deafness, autosomal recessive 85 10.5 GPSM2 LHFPL5 MYO15A MYO7A OTOF SLC26A4
25 auditory neuropathy spectrum disorder 10.5 MYO7A OTOF
26 deafness, autosomal recessive 83 10.5 GPSM2 LHFPL5 MYO15A MYO7A OTOF SLC26A4
27 usher syndrome type 2 10.5 MYO7A PCDH15 WHRN
28 branchiootic syndrome 1 10.5 GPSM2 LOXHD1 MARVELD2 MYO7A OTOF SLC26A4
29 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.5 MYO7A OTOF SLC26A4
30 deafness, autosomal recessive 30 10.5 ESPN MYH9 MYO15A MYO3A MYO6 MYO7A
31 deafness, autosomal recessive 37 10.5 MYH9 MYO15A MYO3A MYO6 MYO7A TRIOBP
32 usher syndrome, type ig 10.5 MYO7A PCDH15
33 auditory system disease 10.5 MYH9 MYO15A MYO7A OTOF PCDH15 SLC26A4
34 autosomal recessive nonsyndromic deafness 3 10.5 MYH9 MYO15A MYO3A MYO6 MYO7A OTOF
35 deafness, autosomal recessive 28 10.5 ESPN TRIOBP
36 usher syndrome, type if 10.4 MYO7A PCDH15
37 non-syndromic genetic deafness 10.4 LOXHD1 MARVELD2 MYH9 MYO15A MYO6 OTOF
38 usher syndrome, type id 10.4 MYO7A PCDH15
39 sensorineural hearing loss 10.4 ESPN MYH9 MYO15A MYO6 MYO7A OTOF
40 autosomal dominant nonsyndromic deafness 10.3 MYO6 MYO7A
41 deafness, autosomal recessive 12 10.2 MYO7A PCDH15
42 nonsyndromic deafness 10.2 ESPN GPSM2 LHFPL5 LOXHD1 MARVELD2 MYH9

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 BDP1 ESPN ESRRB GPSM2 LHFPL5 LOXHD1

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 ESPN ESRRB GPSM2 LHFPL5 MARVELD2 MET
2 hearing/vestibular/ear MP:0005377 10.09 ESPN ESRRB GPSM2 LHFPL5 MARVELD2 MYH9
3 nervous system MP:0003631 9.89 ESPN GPSM2 LHFPL5 MARVELD2 MET MYH9
4 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 rs1554358720 GRCh38 Chromosome 7, 107690138: 107690138
4 SLC26A4 NM_000441.1(SLC26A4): c.1164dupT (p.Gly389Trpfs) duplication Pathogenic rs1554358720 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 12)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.97 ESPN LOXHD1 MYO15A MYO3A MYO6 RDX
2 apical plasma membrane GO:0016324 9.81 MARVELD2 MYO7A RDX SLC26A4
3 cell cortex GO:0005938 9.76 GPSM2 MYH9 MYO6 MYO7A
4 ruffle GO:0001726 9.67 MYH9 MYO6 RDX
5 microvillus GO:0005902 9.62 ESPN MYO6 MYO7A RDX
6 filamentous actin GO:0031941 9.58 ESPN MYO3A MYO6
7 stereocilium tip GO:0032426 9.46 ESPN MYO3A STRC WHRN
8 stereocilium bundle GO:0032421 9.43 ESPN MYO15A WHRN
9 myosin complex GO:0016459 9.35 MYH9 MYO15A MYO3A MYO6 MYO7A
10 stereocilium GO:0032420 9.28 ESPN LOXHD1 MYO15A MYO3A MYO7A PCDH15
11 cytoplasm GO:0005737 10.29 ESPN ESRRB GPSM2 MARVELD2 MYH9 MYO15A
12 cytoskeleton GO:0005856 10.03 ESPN GPSM2 MYH9 MYO15A MYO3A MYO7A

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 locomotory behavior GO:0007626 9.65 ESPN MYO15A PCDH15
2 inner ear development GO:0048839 9.54 ESRRB MYO7A PCDH15
3 establishment of endothelial barrier GO:0061028 9.51 MARVELD2 RDX
4 inner ear receptor cell stereocilium organization GO:0060122 9.5 MYO7A PCDH15 WHRN
5 barbed-end actin filament capping GO:0051016 9.49 RDX TRIOBP
6 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.46 PCDH15 STRC
7 sensory perception of sound GO:0007605 9.44 ESPN LOXHD1 MARVELD2 MYO15A MYO3A MYO6
8 inner ear auditory receptor cell differentiation GO:0042491 9.43 MYO7A PCDH15
9 actin filament-based movement GO:0030048 9.43 MYH9 MYO6 MYO7A
10 equilibrioception GO:0050957 9.4 MYO7A PCDH15
11 auditory receptor cell stereocilium organization GO:0060088 9.35 MYO7A PCDH15 STRC TRIOBP WHRN
12 sensory perception of light stimulus GO:0050953 9.33 MYO7A PCDH15 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 nucleotide binding GO:0000166 9.83 GPSM2 MET MYH9 MYO3A MYO7A
2 actin filament binding GO:0051015 9.77 ESPN MYH9 MYO6 MYO7A TRIOBP
3 protein domain specific binding GO:0019904 9.76 GPSM2 MYH9 MYO7A RDX
4 actin binding GO:0003779 9.73 MYH9 MYO15A MYO3A MYO6 MYO7A RDX
5 calmodulin binding GO:0005516 9.72 MYH9 MYO15A MYO3A MYO6 MYO7A
6 microfilament motor activity GO:0000146 9.58 MYH9 MYO3A MYO7A
7 actin-dependent ATPase activity GO:0030898 9.33 MYH9 MYO3A MYO7A
8 ADP binding GO:0043531 9.26 MYH9 MYO3A MYO6 MYO7A
9 motor activity GO:0003774 9.02 MYH9 MYO15A MYO3A MYO6 MYO7A

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

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
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
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
Content
Loading form....