MCID: DFN265
MIFTS: 47

Deafness, Autosomal Recessive 76 malady

Genetic diseases, Ear diseases, Rare diseases, Neuronal diseases, Fetal diseases, Cardiovascular diseases categories

Summaries for Deafness, Autosomal Recessive 76

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48OMIM, 34MalaCards
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MalaCards: Deafness, Autosomal Recessive 76, also known as autosomal recessive non-syndromic sensorineural deafness type dfnb, is related to dfnb1 and bart-pumphrey syndrome. An important gene associated with Deafness, Autosomal Recessive 76 is SYNE4 (spectrin repeat containing, nuclear envelope family member 4), and among its related pathways are Oligomerization of connexins into connexons and Cell adhesion Gap junctions. The compounds oleamide and aequorin have been mentioned in the context of this disorder. Related mouse phenotypes are no phenotypic analysis and behavior/neurological.

Description from OMIM:48 615540, 220290, 600060, 600316, 600791 600792, 600971, 600974, 601071, 601072, 601386, 601869, 602092, 603010, 603098, 603629, 603678, 603720, 604060, 605428, 605818, 614899, 614934, 614944, 614945, 610220, 610248, 610265, 610419, 611022, 611451, 612433, 612645, 612789, 613079, 613285, 613307, 613391, 613392, 613453, 613685, 613718, 613865, 613916, 614035, 615429, 614414, 614617, 614861, 607039, 607084, 607101, 607239, 607821, 608219, 608264, 608265, 608565, 608653, 609006, 609439, 609533, 609646, 609647, 609706, 609823, 609941, 609946, 609952, 610143, 610153, 610154, 610212, 615837 more

Aliases & Classifications for Deafness, Autosomal Recessive 76

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48OMIM, 50Orphanet, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
autosomal recessive non-syndromic sensorineural deafness type dfnb:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

deafness, autosomal recessive 76 48
autosomal recessive non-syndromic sensorineural deafness type dfnb 50
autosomal recessive non-syndromic neurosensory deafness type dfnb 50
autosomal recessive isolated sensorineural deafness type dfnb 50
autosomal recessive isolated neurosensory deafness type dfnb 50


Related Diseases for Deafness, Autosomal Recessive 76

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18GeneCards, 19GeneDecks
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Diseases in the Deafness, Autosomal Dominant 4b family:

Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 55
Deafness, Autosomal Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 32 Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 49 Deafness, Autosomal Recessive 45
Deafness, Autosomal Recessive 9 Deafness, Autosomal Dominant 58
Deafness, Autosomal Recessive 70 Deafness, Autosomal Dominant 43
Deafness, Autosomal Recessive 88 Deafness, Autosomal Dominant 16
Deafness, Autosomal Recessive 27 Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 42
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 6/14/38 Deafness, Autosomal Recessive 25
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 26
Deafness, Autosomal Dominant 24 Deafness, Autosomal Recessive 49
Deafness, Autosomal Dominant 1 Deafness, Autosomal Dominant 54
Deafness, Autosomal Dominant 15 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 91
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 66
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 53
Deafness, Autosomal Dominant 31 Deafness, Autosomal Recessive 67
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 10 Deafness, Autosomal Recessive 38
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 39 Deafness, Autosomal Recessive 61
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 17
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 13
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 28
Deafness, Autosomal Recessive 83 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 31
Deafness, Autosomal Dominant 56 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 18a Deafness, Autosomal Recessive 18b
Deafness, Autosomal Dominant 59 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 63 Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 8/12
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 20 Deafness, Autosomal Recessive 62
Deafness, Autosomal Dominant 48 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 84b
Deafness, Autosomal Dominant 25 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 3b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Dominant 33
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 48 Deafness, Autosomal Dominant 30
Deafness , Autosomal Recessive 86 Deafness, Autosomal Dominant 40
Deafness, Autosomal Recessive 22 Deafness, Autosomal Recessive 89
Deafness, Autosomal Recessive 85 Deafness, Autosomal Recessive 3
Deafness, Autosomal Dominant 20/26 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 81
deafness, autosomal recessive 76 Deafness, Autosomal Dominant 4a
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 29
Deafness, Autosomal Recessive 8/10 Deafness, Autosomal Recessive 98
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 40
Deafness, Autosomal Recessive 28

Diseases related to Deafness, Autosomal Recessive 76 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1dfnb110.1OTOF, GJB2, GJB6
2bart-pumphrey syndrome10.1GJB6, GJB2
3dfnb 1 nonsyndromic hearing loss and deafness10.1GJB6, GJB2
4hodgkin's lymphoma, nodular sclerosis10.1SLC26A4, GJB3, GJB6
5enlarged vestibular aqueduct10.1GJB2, SLC26A4
6pendred syndrome10.1GJB2, SLC26A4, SLC26A5
7dfna 3 nonsyndromic hearing loss and deafness10.1GJB6, GJB2
8clouston syndrome10.1GJB3, GJB2, GJB6
9palmoplantar keratosis10.1GJB3, GJB2, GJA1
10hidrotic ectodermal dysplasia 210.1GJB6, GJB2
11sensorineural hearing loss10.1GJB3, GJB2
12erythrokeratodermia variabilis10.1GJB3, GJB2
13diastrophic dysplasia10.1SLC26A4, SLC26A5
14usher syndrome10.1CDH23, GJB2
15ectodermal dysplasia10.1GJB2
16skin disease10.1GJB6, GJA1, GJB2, GJB3
17nonsyndromic deafness10.1TRIOBP, GJB6, GJB2, GJB3, GRXCR1, CDH23
18nonepidermolytic palmoplantar keratoderma10.1GJB3, GJB2

Graphical network of diseases related to Deafness, Autosomal Recessive 76:



Diseases related to deafness, autosomal recessive 76

Symptoms for Deafness, Autosomal Recessive 76

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48OMIM
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Drugs & Therapeutics for Deafness, Autosomal Recessive 76

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Deafness, Autosomal Recessive 76

Drug clinical trials:

Search ClinicalTrials for Deafness, Autosomal Recessive 76

Search NIH Clinical Center for Deafness, Autosomal Recessive 76

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Genetic Tests for Deafness, Autosomal Recessive 76

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Anatomical Context for Deafness, Autosomal Recessive 76

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Animal Models for Deafness, Autosomal Recessive 76 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 76:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000301210.0GJB6, GJA1, GJB2, GJB3, OTOF, HGF
2MP:00053869.5GJB6, GJA1, GRXCR1, CDH23, RDX, SLITRK6
3MP:00053779.5TRIOBP, SYNE4, GJB6, GJA1, GJB2, GRXCR1
4MP:00036319.4GRXCR1, GJB2, GJA1, GJB6, SYNE4, CDH23

Publications for Deafness, Autosomal Recessive 76

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Variations for Deafness, Autosomal Recessive 76

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Deafness, Autosomal Recessive 76:

1
id Gene Name Type Significance SNP ID Assembly Location
1SYNE4NM_001039876.1(SYNE4): c.228_229delAT (p.Trp77Valfs)deletionPathogenic/card/deafness_autosomal_recessive_76GRCh37Chr 19, 36499169: 36499170

Expression for genes affiliated with Deafness, Autosomal Recessive 76

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Deafness, Autosomal Recessive 76

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 76.

Pathways for genes affiliated with Deafness, Autosomal Recessive 76

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51PathCards, 56Reactome, 61Thomson Reuters, 39NCBI BioSystems Database, 54QIAGEN, 31KEGG
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Compounds for genes affiliated with Deafness, Autosomal Recessive 76

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Sources:
46Novoseek, 30IUPHAR, 25HMDB, 62Tocris Bioscience, 12DrugBank, 3BitterDB
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Compounds related to Deafness, Autosomal Recessive 76 according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1oleamide46 30 2512.5GJB2, GJA1
2aequorin4610.5GJA1, GJB2
3oxalate4610.5SLC26A5, SLC26A4
410panx6210.4GJB3, GJB6, GJA1, GJB2
5gap 276210.4GJB6, GJA1, GJB2, GJB3
6triiodothyronine4610.4SLC26A4, GJA1, HGF
7carbenoxolone disodium6210.4GJB6, GJA1, GJB2, GJB3
8scrambled 10panx6210.4GJB6, GJA1, GJB2, GJB3
9octanol30 2511.4GJB6, GJA1, GJB2, GJB3
10carbenoxolone46 30 1212.4GJB3, GJB2, GJA1, GJB6
11ca2+3010.4GJB6, GJA1, GJB2, GJB3
12flufenamic acid30 46 3 1213.4GJB6, GJA1, GJB2, GJB3
13iodide46 2511.3SLC26A5, SLC26A4
14chloride4610.3SLC26A5, SLC26A4, GJB2
15potassium46 25 1212.3GJB3, GJB2, GJA1, HGF
16proline4610.2HGF, GJA1, GJB2, GJB3
17ethidium bromide4610.2GJA1, GJB3
18retinoid4610.2GJB2, GJA1, HGF
19formate4610.0SLC26A5, SLC26A4

GO Terms for genes affiliated with Deafness, Autosomal Recessive 76

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17Gene Ontology
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Cellular components related to Deafness, Autosomal Recessive 76 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gap junctionGO:00592110.3GJB3, GJA1
2stereociliumGO:03242010.1GRXCR1, CDH23, RDX
3connexon complexGO:00592210.1GJB3, GJB2, GJA1, GJB6
4apical plasma membraneGO:0163249.9OTOG, OTOA, SLC26A4, GJB6

Biological processes related to Deafness, Autosomal Recessive 76 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell communicationGO:00715410.3GJB3, GJB6
2L-arabinose metabolic processGO:04637310.3OTOGL, OTOG
3gap junction assemblyGO:01626410.0GJB2, GJA1
4sensory perception of soundGO:0076059.7OTOG, GJB6, GJB2, GJB3, GRXCR1, CDH23

Molecular functions related to Deafness, Autosomal Recessive 76 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1secondary active sulfate transmembrane transporter activityGO:00827110.3SLC26A5, SLC26A4
2gap junction channel activityGO:00524310.1GJB3, GJB2, GJA1
3alpha-L-arabinofuranosidase activityGO:04655610.1OTOG, OTOGL

Products for genes affiliated with Deafness, Autosomal Recessive 76

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Deafness, Autosomal Recessive 76

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet