MCID: NNS014
MIFTS: 28

Nonsyndromic Hearing Loss and Deafness malady

Ear category

Summaries for Nonsyndromic Hearing Loss and Deafness

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33MalaCards
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MalaCards: Nonsyndromic Hearing Loss and Deafness is related to nonsyndromic hearing loss and deafness, mitochondrial and dfna 3 nonsyndromic hearing loss and deafness. An important gene associated with Nonsyndromic Hearing Loss and Deafness is GJB6 (gap junction protein, beta 6, 30kDa), and among its related pathways are Signaling in Gap Junctions and Gap junction trafficking. The compounds 10panx and gap 27 have been mentioned in the context of this disorder. Related mouse phenotypes are vision/eye and hearing/vestibular/ear.

Aliases & Classifications for Nonsyndromic Hearing Loss and Deafness

Sources:
20GeneTests, 22GTR
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Classifications:

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


Aliases & Descriptions:

nonsyndromic hearing loss and deafness 20 22


Related Diseases for Nonsyndromic Hearing Loss and Deafness

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Nonsyndromic Hearing Loss and Deafness family:

hearing loss/deafness multi-gene panels mt-ts1-related hearing loss and deafness
mt-co1-related hearing loss and deafness

Diseases related to Nonsyndromic Hearing Loss and Deafness via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1nonsyndromic hearing loss and deafness, mitochondrial30.8MT-TS1, MT-RNR1
2dfna 3 nonsyndromic hearing loss and deafness30.8GJB2, GJB6
3dfnb 1 nonsyndromic hearing loss and deafness30.6GJB6, GJB2
4dfnb130.4MYO7A, GJB6, GJB2
5dfnx1 nonsyndromic hearing loss and deafness10.6
6nonsyndromic hearing loss and deafness, autosomal dominant10.5
7nonsyndromic hearing loss and deafness, autosomal recessive10.5
8dfnb 8/10 nonsyndromic hearing loss and deafness10.5
9nonsyndromic hearing loss and deafness, dfna310.4
10nonsyndromic hearing loss and deafness, dfnb110.4
11nonsyndromic hearing loss and deafness, x-linked10.4
12dfna 6/14/38 nonsyndromic hearing loss and deafness10.4
13gjb6-related dfna 3 nonsyndromic hearing loss and deafness10.4
14gjb6-related dfnb 1 nonsyndromic hearing loss and deafness10.4
15dfna 8/12 nonsyndromic hearing loss and deafness10.4
16dfnb21 nonsyndromic hearing loss and deafness10.4
17dfnb12 nonsyndromic hearing loss and deafness10.4
18dfna11 nonsyndromic hearing loss and deafness10.4
19dfnb 3 nonsyndromic hearing loss and deafness10.4
20dfnb 6 nonsyndromic hearing loss and deafness10.4
21dfnb 7/11 nonsyndromic hearing loss and deafness10.4
22dfnb16 nonsyndromic hearing loss and deafness10.4
23dfnb18 nonsyndromic hearing loss and deafness10.4
24dfnb28 nonsyndromic hearing loss and deafness10.4
25dfnb30 nonsyndromic hearing loss and deafness10.4
26dfna 1 nonsyndromic hearing loss and deafness10.4
27dfna 4 nonsyndromic hearing loss and deafness10.4
28dfna 5 nonsyndromic hearing loss and deafness10.4
29dfna10 nonsyndromic hearing loss and deafness10.4
30dfna13 nonsyndromic hearing loss and deafness10.4
31dfna17 nonsyndromic hearing loss and deafness10.4
32dfna22 nonsyndromic hearing loss and deafness10.4
33dfna23 nonsyndromic hearing loss and deafness10.4
34dfna36 nonsyndromic hearing loss and deafness10.4
35dfna44 nonsyndromic hearing loss and deafness10.4
36dfnb23 nonsyndromic hearing loss and deafness10.4
37dfnb31 nonsyndromic hearing loss and deafness10.4
38dfnb37 nonsyndromic hearing loss and deafness10.4
39dfnb59 nonsyndromic hearing loss and deafness10.4
40dfnb39 nonsyndromic hearing loss and deafness10.4
41dfna20/26 nonsyndromic hearing loss and deafness10.4
42dfna25 nonsyndromic hearing loss and deafness10.4
43dfna28 nonsyndromic hearing loss and deafness10.4
44dfna50 nonsyndromic hearing loss and deafness10.4
45dfna48 nonsyndromic hearing loss and deafness10.4
46dfna 2b nonsyndromic hearing loss and deafness10.4
47dfnb22 nonsyndromic hearing loss and deafness10.4
48dfnb24 nonsyndromic hearing loss and deafness10.4
49dfnb29 nonsyndromic hearing loss and deafness10.4
50dfnb36 nonsyndromic hearing loss and deafness10.4

Graphical network of the top 20 diseases related to Nonsyndromic Hearing Loss and Deafness:



Diseases related to nonsyndromic hearing loss and deafness

Clinical Features for Nonsyndromic Hearing Loss and Deafness

Drugs & Therapeutics for Nonsyndromic Hearing Loss and Deafness

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Nonsyndromic Hearing Loss and Deafness

Drug clinical trials:

Search ClinicalTrials for Nonsyndromic Hearing Loss and Deafness

Search NIH Clinical Center for Nonsyndromic Hearing Loss and Deafness

Search CenterWatch for Nonsyndromic Hearing Loss and Deafness

Genetic Tests for Nonsyndromic Hearing Loss and Deafness

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20GeneTests, 22GTR
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Genetic tests related to Nonsyndromic Hearing Loss and Deafness:

id Genetic test Affiliating Genes
1 Nonsyndromic Hearing Loss And Deafness20 22

Anatomical Context for Nonsyndromic Hearing Loss and Deafness

Animal Models for Nonsyndromic Hearing Loss and Deafness or affiliated genes

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

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539110.1MYO7A, MYO6, GJB2, SIX1, TMC1, POU4F3
2MP:00053779.5LHFPL5, TMIE, TECTA, TMC1, SIX1, LRTOMT
3MP:00036319.4TMIE, LHFPL5, STRC, GJB6, POU4F3, MYO7A
4MP:00053869.3GJB6, TMIE, TMC1, TECTA, SIX1, LRTOMT

Publications for Nonsyndromic Hearing Loss and Deafness

Genetic Variations for Nonsyndromic Hearing Loss and Deafness

Expression for genes affiliated with Nonsyndromic Hearing Loss and Deafness

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

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

Pathways for genes affiliated with Nonsyndromic Hearing Loss and Deafness

Sources:
52QIAGEN, 54Reactome
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Pathways related to Nonsyndromic Hearing Loss and Deafness according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3GJB2, GJB3, GJB6
2
Hide members
10.2GJB2, GJB3, GJB6, MYO6
310.2MYO6, GJB6, GJB3, GJB2

Compounds for genes affiliated with Nonsyndromic Hearing Loss and Deafness

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

idCompoundScoreTop Affiliating Genes
110panx6010.5GJB2, GJB6, GJB3
2gap 276010.4GJB6, GJB3, GJB2
3carbenoxolone disodium6010.4GJB6, GJB3, GJB2
4scrambled 10panx6010.4GJB6, GJB3, GJB2
5octanol29 2411.3GJB6, GJB3, GJB2
6flufenamic acid45 29 2 1113.3GJB2, GJB3, GJB6
7carbenoxolone29 45 1112.2GJB2, GJB3, GJB6
8ca2+2910.0GJB6, GJB3, GJB2

GO Terms for genes affiliated with Nonsyndromic Hearing Loss and Deafness

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

idNameGO IDScoreTop Affiliating Genes
1stereociliumGO:03242010.3TPRN, MYO7A, STRC
2stereocilium bundle tipGO:03242610.1TMC1, STRC, LHFPL5
3connexon complexGO:00592210.0GJB2, GJB3, GJB6

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1auditory receptor cell stereocilium organizationGO:06008810.4LHFPL5, STRC, MYO7A
2actin filament-based movementGO:03004810.4MYO6, MYO7A
3inner ear morphogenesisGO:04247210.3TMIE, SIX1, MYO6, POU4F3
4detection of mechanical stimulus involved in sensory perception of soundGO:05091010.2LHFPL5, STRC, TMC1
5auditory receptor cell developmentGO:06011710.2TMC1, LRTOMT
6auditory receptor cell differentiationGO:04249110.0MYO6, POU4F3
7sensory perception of soundGO:0076059.7TPRN, DFNB59, POU4F3, MARVELD2, MYO7A, MYO6

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

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:00524310.3GJB2, GJB3

Products for genes affiliated with Nonsyndromic Hearing Loss and Deafness

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Nonsyndromic Hearing Loss and Deafness

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