MCID: ATS251
MIFTS: 29

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Categories: Ear diseases, Rare diseases, Neuronal diseases

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

MalaCards integrated aliases for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna:

Name: Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 59 29 6
Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna 59
Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna 59
Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna 59
Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna 59
Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna 59
Autosomal Dominant Isolated Sensorineural Deafness Type Dfna 59
Autosomal Dominant Isolated Neurosensory Deafness Type Dfna 59

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant non-syndromic sensorineural deafness type dfna
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 59 ORPHA90635
ICD10 via Orphanet 34 H90.3

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

MalaCards based summary : Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna, also known as autosomal dominant non-syndromic sensorineural hearing loss type dfna, is related to deafness, autosomal dominant 48 and deafness, autosomal dominant 11. An important gene associated with Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna is MYO7A (Myosin VIIA), and among its related pathways/superpathways are Integrin Pathway and PAK Pathway. Related phenotypes are behavior/neurological and hearing/vestibular/ear

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

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



Diseases related to Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

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

MGI Mouse Phenotypes related to Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 ACTG1 MCM2 MYO6 MYO7A POU4F3 SIX1
2 hearing/vestibular/ear MP:0005377 9.7 ACTG1 MYH9 MYO1C MYO6 MYO7A POU4F3
3 nervous system MP:0003631 9.47 MYO6 MYO7A P2RX2 POU4F3 SIX1 SLC17A8

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

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

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

Genetic tests related to Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna:

# Genetic test Affiliating Genes
1 Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 29

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

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

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

ClinVar genetic disease variations for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PDE1C NM_001191058.3(PDE1C): c.958G> T (p.Ala320Ser) single nucleotide variant Likely pathogenic rs775633137 GRCh37 Chromosome 7, 31890328: 31890328
2 PDE1C NM_001191058.3(PDE1C): c.958G> T (p.Ala320Ser) single nucleotide variant Likely pathogenic rs775633137 GRCh38 Chromosome 7, 31850714: 31850714

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

Search GEO for disease gene expression data for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna.

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

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 ACTG1 MYH14 MYH9 MYO1C MYO6 MYO7A
2
Show member pathways
13.04 ACTG1 MYH14 MYH9 MYO1C MYO6 MYO7A
3
Show member pathways
12.73 ACTG1 MYH14 MYH9 MYO1C MYO6 MYO7A
4
Show member pathways
12.57 ACTG1 MYH14 MYH9 MYO1C MYO6 MYO7A
5
Show member pathways
12.49 ACTG1 MYH14 MYH9 MYO1C MYO6 MYO7A
6 12.25 ACTG1 MYH14 MYH9 MYO6
7 11.85 ACTG1 MYH14 MYH9 TJP2
8
Show member pathways
11.81 ACTG1 MYH14 MYH9 MYO1C MYO6 MYO7A
9
Show member pathways
11.71 ACTG1 MYH14 MYH9
10 11.51 ACTG1 MYH14 MYH9
11 10.64 ACTG1 MYH14 MYH9 MYO1C MYO6 MYO7A

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

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

# Name GO ID Score Top Affiliating Genes
1 ruffle GO:0001726 9.63 MYH9 MYO1C MYO6
2 microvillus GO:0005902 9.61 MYO1C MYO6 MYO7A
3 brush border GO:0005903 9.54 MYH14 MYH9 MYO1C
4 stress fiber GO:0001725 9.5 MYH14 MYH9 MYO1C
5 actomyosin GO:0042641 9.48 MYH14 MYH9
6 unconventional myosin complex GO:0016461 9.4 MYO1C MYO6
7 filamentous actin GO:0031941 9.33 ACTG1 MYO1C MYO6
8 myosin II complex GO:0016460 9.26 MYH14 MYH9
9 myosin complex GO:0016459 9.02 MYH14 MYH9 MYO1C MYO6 MYO7A
10 myosin II filament GO:0097513 8.96 MYH14 MYH9

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

# Name GO ID Score Top Affiliating Genes
1 microtubule-based movement GO:0007018 9.55 MYH14 MYH9 MYO1C MYO6 MYO7A
2 inner ear morphogenesis GO:0042472 9.54 MYO7A POU4F3 SIX1
3 actomyosin structure organization GO:0031032 9.43 MYH14 MYH9
4 inner ear development GO:0048839 9.43 MYO7A POU4F3 SIX1
5 inner ear auditory receptor cell differentiation GO:0042491 9.4 MYO7A POU4F3
6 inner ear receptor cell differentiation GO:0060113 9.32 MYO7A POU4F3
7 sensory perception of sound GO:0007605 9.32 MYH14 MYO6 MYO7A P2RX2 POU4F3 SIX1
8 actin filament-based movement GO:0030048 9.26 MYH14 MYH9 MYO6 MYO7A

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.89 MCM2 MYH14 MYH9 MYO1C MYO7A
2 actin binding GO:0003779 9.85 MYH14 MYH9 MYO1C MYO6 MYO7A
3 microtubule binding GO:0008017 9.8 MYH14 MYH9 MYO1C MYO6 MYO7A
4 actin filament binding GO:0051015 9.72 MYH14 MYH9 MYO1C MYO6 MYO7A
5 microtubule motor activity GO:0003777 9.65 MYH14 MYH9 MYO1C MYO6 MYO7A
6 ADP binding GO:0043531 9.61 MYH9 MYO6 MYO7A
7 motor activity GO:0003774 9.55 MYH14 MYH9 MYO1C MYO6 MYO7A
8 microfilament motor activity GO:0000146 9.54 MYH9 MYO1C MYO7A
9 calmodulin binding GO:0005516 9.43 MYH14 MYH9 MYO1C MYO6 MYO7A WFS1
10 actin-dependent ATPase activity GO:0030898 8.92 MYH14 MYH9 MYO1C MYO7A
11 ATP binding GO:0005524 10.08 ACTG1 MCM2 MYH14 MYH9 MYO1C MYO6

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

3 CDC
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9 Cosmic
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11 DGIdb
17 ExPASy
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28 GO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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