MCID: NNS016
MIFTS: 20

Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive malady

Categories: Genetic diseases (common), Ear diseases

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

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

Name: Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 24 27

Classifications:



Summaries for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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MalaCards based summary: Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive is related to molluscum contagiosum and robinow syndrome, autosomal dominant 1. An important gene associated with Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive is USH1C (USH1 Protein Network Component Harmonin). Related mouse phenotypes are behavior/neurological and hearing/vestibular/ear.

Related Diseases for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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



Diseases related to nonsyndromic hearing loss and deafness, autosomal recessive

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

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

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idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.3ESPN, GRXCR1, LHFPL5, LRTOMT, MARVELD2, MET
2MP:00053776.3ESPN, GRXCR1, ILDR1, LHFPL5, LRTOMT, MARVELD2
3MP:00036315.0ESPN, GRXCR1, ILDR1, LHFPL5, LRTOMT, MARVELD2

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

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Interventional clinical trials:

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

Genetic Tests for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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

id Genetic test Affiliating Genes
1 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive27 24 USH1C

Anatomical Context for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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Publications for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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Variations for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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

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

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

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

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

idNameGO IDScoreTop Affiliating Genes
1filamentous actinGO:003194110.2ESPN, MYO3A
2stereocilium tipGO:00324269.7ESPN, LHFPL5
3stereocilium bundleGO:00324219.7ESPN, LHFPL5, PTPRQ
4tricellular tight junctionGO:00616899.6ILDR1, MARVELD2
5microvillusGO:00059029.4ESPN, GRXCR1, USH1C
6cell projectionGO:00429958.6ESPN, GRXCR1, LOXHD1, TPRN, USH1C
7stereociliumGO:00324208.5ESPN, GRXCR1, LOXHD1, TPRN, USH1C

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

idNameGO IDScoreTop Affiliating Genes
1detection of mechanical stimulus involved in sensory perception of soundGO:005091010.5LHFPL5, PTPRQ
2inner ear morphogenesisGO:004247210.4PTPRQ, TMIE, USH1C
3actin filament bundle assemblyGO:005101710.4ESPN, USH1C
4parallel actin filament bundle assemblyGO:003004610.3ESPN, USH1C
5inner ear receptor stereocilium organizationGO:006012210.0GRXCR1, USH1C
6sensory perception of soundGO:00076055.7ESPN, GRXCR1, LHFPL5, LOXHD1, LRTOMT, MARVELD2

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

idNameGO IDScoreTop Affiliating Genes
1spectrin bindingGO:003050710.0SLC26A5, USH1C

Sources for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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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