MCID: NNS016
MIFTS: 21

Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive malady

Ear 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


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

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

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5CenterWatch, 42NIH 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

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

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.3LHFPL5, FOXI1, USH1C, DFNB59, MYO15A, GJB6
2MP:00053777.5ESPN, KCNJ10, LHFPL5, FOXI1, STRC, USH1C
3MP:00036317.3TRIOBP, DFNB59, USH1C, STRC, FOXI1, LHFPL5

Publications for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

Genetic Variations for Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

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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54Reactome
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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

Sources:
60Tocris Bioscience, 29IUPHAR, 24HMDB, 45Novoseek, 2BitterDB, 11DrugBank
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Compounds related to Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
110panx6010.3GJB2, GJB6
2scrambled 10panx6010.3GJB2, GJB6
3carbenoxolone disodium6010.2GJB2, GJB6
4gap 276010.2GJB2, GJB6
5octanol29 2411.1GJB6, GJB2
6flufenamic acid45 29 2 1113.1GJB2, GJB6
7carbenoxolone29 45 1112.0GJB2, GJB6
8ca2+299.8GJB2, GJB6

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

Sources:
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:00592210.1GJB2, GJB6
2stereocilium bundle tipGO:0324269.9LHFPL5, STRC, ESPN
3stereociliumGO:0324209.7TPRN, ESPN, MYO15A, USH1C, STRC
4apical plasma membraneGO:0163249.5OTOA, SLC26A4, LHFPL5, KCNJ10

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet