MCID: ATS251
MIFTS: 29

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Categories: Ear diseases, Neuronal diseases, Rare 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 55 28
Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna 55
Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna 55
Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna 55
Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna 55
Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna 55
Autosomal Dominant Isolated Sensorineural Deafness Type Dfna 55
Autosomal Dominant Isolated Neurosensory Deafness Type Dfna 55

Characteristics:

Orphanet epidemiological data:

55
autosomal dominant non-syndromic sensorineural deafness type dfna
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 55 ORPHA90635
ICD10 via Orphanet 33 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 11 and deafness, autosomal dominant 48. An important gene associated with Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna is MYO7A (Myosin VIIA), and among its related pathways/superpathways are Sweet Taste Signaling and Actin Nucleation by ARP-WASP Complex. 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:

43
# 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 MYO7A P2RX2 POU4F3 SIX1 SLC17A8 TECTA

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 28

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...

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...

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 9.65 MYH9 MYO1C MYO6
2 microvillus GO:0005902 9.58 MYO1C MYO6 MYO7A
3 brush border GO:0005903 9.54 MYH14 MYH9 MYO1C
4 actomyosin GO:0042641 9.46 MYH14 MYH9
5 unconventional myosin complex GO:0016461 9.43 MYO1C MYO6
6 stress fiber GO:0001725 9.43 MYH14 MYH9 MYO1C
7 myosin II complex GO:0016460 9.32 MYH14 MYH9
8 myosin II filament GO:0097513 9.16 MYH14 MYH9
9 filamentous actin GO:0031941 9.13 ACTG1 MYO1C MYO6
10 myosin complex GO:0016459 9.02 MYH14 MYH9 MYO1C MYO6 MYO7A

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 inner ear morphogenesis GO:0042472 9.5 MYO7A POU4F3 SIX1
2 inner ear auditory receptor cell differentiation GO:0042491 9.37 MYO7A POU4F3
3 inner ear development GO:0048839 9.33 MYO7A POU4F3 SIX1
4 sensory perception of sound GO:0007605 9.32 MYH14 MYO6 MYO7A P2RX2 POU4F3 SIX1
5 inner ear receptor cell differentiation GO:0060113 9.26 MYO7A POU4F3
6 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:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.85 MCM2 MYH14 MYH9 MYO1C MYO7A
2 actin binding GO:0003779 9.8 MYH14 MYH9 MYO1C MYO6 MYO7A
3 actin filament binding GO:0051015 9.72 MYH14 MYH9 MYO1C MYO6 MYO7A
4 motor activity GO:0003774 9.65 MYH14 MYH9 MYO1C MYO6 MYO7A
5 calmodulin binding GO:0005516 9.63 MYH14 MYH9 MYO1C MYO6 MYO7A WFS1
6 ADP binding GO:0043531 9.54 MYH9 MYO6 MYO7A
7 microfilament motor activity GO:0000146 9.26 MYH14 MYH9 MYO1C MYO7A
8 actin-dependent ATPase activity GO:0030898 8.92 MYH14 MYH9 MYO1C MYO7A
9 ATP binding GO:0005524 10.03 ACTG1 MCM2 MYH14 MYH9 MYO1C MYO6

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

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