MCID: NNS016
MIFTS: 28

Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive malady

Ear diseases category

Summaries for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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MalaCards: Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive is related to pendred syndrome/dfnb4 and usher syndrome. An important gene associated with Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive is USH1C (Usher syndrome 1C (autosomal recessive, severe)), and among its related pathways is Gap junction trafficking. The compounds 10panx and scrambled 10panx have been mentioned in the context of this disorder. Related mouse phenotypes are behavior/neurological and hearing/vestibular/ear.

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

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20GeneTests, 22GTR
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Ear diseases


Aliases & Descriptions:

nonsyndromic hearing loss and deafness, autosomal recessive 20 22


Related Diseases for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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17GeneCards, 18GeneDecks
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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

Clinical Features for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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

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

Search CenterWatch for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

Genetic Tests for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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20GeneTests, 22GTR
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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 Recessive20 22 USH1C

Anatomical Context for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.3LRTOMT, SLC26A4, TECTA, TMPRSS3, TMIE, GJB6
2MP:00053777.5KCNJ10, ESPN, TMIE, TMPRSS3, TECTA, OTOA
3MP:00036317.3KCNJ10, LHFPL5, FOXI1, STRC, USH1C, DFNB59

Publications for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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

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

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53Reactome
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Pathways related to Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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10.1GJB2, GJB6

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

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

idCompoundScoreTop Affiliating Genes
110panx5910.3GJB2, GJB6
2scrambled 10panx5910.3GJB2, GJB6
3carbenoxolone disodium5910.2GJB2, GJB6
4gap 275910.2GJB2, GJB6
5octanol28 2411.1GJB6, GJB2
6flufenamic acid44 28 2 1113.1GJB2, GJB6
7carbenoxolone28 44 1112.0GJB2, GJB6
8ca2+289.8GJB2, GJB6

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

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

idNameGO IDScoreTop Affiliating Genes
1connexon complexGO:00592210.1GJB6, GJB2
2stereocilium bundle tipGO:0324269.9STRC, ESPN, LHFPL5
3stereociliumGO:0324209.7ESPN, STRC, USH1C, MYO15A, TPRN
4apical plasma membraneGO:0163249.5KCNJ10, LHFPL5, SLC26A4, OTOA

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

idNameGO IDScoreTop Affiliating Genes
1detection of mechanical stimulus involved in sensory perception of soundGO:05091010.2STRC, LHFPL5
2parallel actin filament bundle assemblyGO:03004610.1ESPN, USH1C
3auditory receptor cell stereocilium organizationGO:0600889.9STRC, LHFPL5
4inner ear morphogenesisGO:0424729.9FOXI1, USH1C, MYO15A, TMIE
5sensory perception of soundGO:0076058.2TPRN, USH1C, DFNB59, MARVELD2, MYO15A, GJB6

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

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Sources for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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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