MCID: NNS015
MIFTS: 29

Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant malady

Ear diseases category

Summaries for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

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MalaCards: Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant is related to keratoderma and ectodermal dysplasia. An important gene associated with Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant is WFS1 (Wolfram syndrome 1 (wolframin)), and among its related pathways are Signaling in Gap Junctions and Membrane Trafficking. The compounds 10panx and gap 27 have been mentioned in the context of this disorder. Related mouse phenotypes are vision/eye and no phenotypic analysis.

Aliases & Classifications for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

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Classifications:

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Anatomical: Ear diseases


Aliases & Descriptions:

nonsyndromic hearing loss and deafness, autosomal dominant 20 22


Related Diseases for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

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Graphical network of diseases related to Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant:



Diseases related to nonsyndromic hearing loss and deafness, autosomal dominant

Clinical Features for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

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Drugs & Therapeutics for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

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Genetic tests related to Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant20 22 WFS1

Anatomical Context for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

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Animal Models for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.7SIX1, GJB2, MYO6, MYO7A, POU4F3, GRHL2
2MP:00030128.6DIAPH1, MYO7A, MYH14, GJB6, GJB3, GJB2
3MP:00107718.6DIAPH1, WFS1, MYO7A, MYO6, GJB3, GJB2
4MP:00053828.6COL11A2, DIAPH1, GRHL2, MYO6, GJB2, SIX1
5MP:00053868.4WFS1, POU4F3, MYO7A, MYO6, MIR96, GJB6
6MP:00053908.4COL11A2, DIAPH1, GRHL2, MYO7A, MYO6, GJB2
7MP:00053788.0COL11A2, DIAPH1, WFS1, GRHL2, POU4F3, MYO7A
8MP:00053777.2TECTA, COCH, COL11A2, KCNQ4, DFNA5, POU4F3
9MP:00036317.0MYO7A, POU4F3, GRHL2, DFNA5, KCNQ4, MYH14

Publications for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

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Genetic Variations for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

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Expression for genes affiliated with Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

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Pathways for genes affiliated with Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

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51QIAGEN, 53Reactome
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Compounds for genes affiliated with Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

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59Tocris Bioscience, 28IUPHAR, 24HMDB, 44Novoseek, 2BitterDB, 11DrugBank
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Compounds related to Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
110panx5910.1GJB2, GJB6, GJB3
2gap 275910.0GJB6, GJB3, GJB2
3carbenoxolone disodium5910.0GJB6, GJB3, GJB2
4scrambled 10panx599.9GJB6, GJB3, GJB2
5octanol28 2410.9GJB6, GJB3, GJB2
6flufenamic acid44 28 2 1112.9GJB2, GJB3, GJB6
7carbenoxolone28 44 1111.8GJB2, GJB3, GJB6
8ca2+289.6GJB6, GJB3, GJB2

GO Terms for genes affiliated with Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

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16Gene Ontology
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Cellular components related to Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basal plasma membraneGO:00992510.0MYO1A, KCNQ4
2connexon complexGO:0059229.9GJB2, GJB3, GJB6
3filamentous actinGO:0319419.6MYO6, MYO1A
4myosin complexGO:0164599.5MYO7A, MYH14, MYO1A

Biological processes related to Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of cell shapeGO:0083609.7MYH14, DIAPH1, COCH
2auditory receptor cell differentiationGO:0424919.6POU4F3, MYO6
3inner ear morphogenesisGO:0424729.5KCNQ4, POU4F3, MYO6, SIX1
4actin filament-based movementGO:0300489.3MYO6, MYH14, MYO7A
5sensory perception of soundGO:0076056.6TECTA, COCH, COL11A2, KCNQ4, DIAPH1, DFNA5

Molecular functions related to Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microfilament motor activityGO:0001469.8MYH14, MYO7A
2gap junction channel activityGO:0052439.8GJB2, GJB3
3actin filament bindingGO:0510159.3MYO7A, MYH14, MYO6
4calmodulin bindingGO:0055169.2MYO6, MYO1A, MYH14, MYO7A

Products for genes affiliated with Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

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Sources for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet