MCID: NNS015
MIFTS: 16

Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant malady

Categories: Genetic diseases (common), Ear diseases

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

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Aliases & Descriptions for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant:

Name: Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant 24

Classifications:



Summaries for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

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MalaCards based summary: Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant is related to inflammatory bowel disease 5 and 46xy partial gonadal dysgenesis, with minifascicular neuropathy. An important gene associated with Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant is WFS1 (Wolframin ER Transmembrane Glycoprotein), and among its related pathways is RhoGDI Pathway. Related mouse phenotype hearing/vestibular/ear.

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

Symptoms & Phenotypes for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

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MGI Mouse Phenotypes related to Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.0ACTG1, CRYM, DFNA5, MYO1A, MYO6, SLC17A8

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

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Epidemiology of Non-syndromic Dominant DeafnessCompletedNCT01150305

Search NIH Clinical Center for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

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 Dominant24 WFS1

Anatomical Context for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

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Publications for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

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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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Search GEO for disease gene expression data for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant.

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

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Pathways related to Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5ACTG1, MYO1A, MYO6

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

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Cellular components related to Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1microvillusGO:000590210.3MYO1A, MYO6
2filamentous actinGO:003194110.0ACTG1, MYO1A, MYO6
3myosin complexGO:00164599.8MYO1A, MYO6

Biological processes related to Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell junction assemblyGO:00343299.8ACTG1, GRHL2
2sensory perception of soundGO:00076057.1CCDC50, CRYM, DFNA5, MYO1A, MYO6, P2RX2

Molecular functions related to Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1calmodulin bindingGO:000551610.2MYO1A, MYO6, WFS1
2ubiquitin protein ligase bindingGO:00316259.2ACTG1, CCDC50, WFS1

Sources for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet