DFNB1
MCID: DFN038
MIFTS: 26

Dfnb1 (DFNB1) malady

Ear diseases category

Summaries for Dfnb1

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32MalaCards
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MalaCards: Dfnb1, also known as deafness nonsyndromic, connexin 26 linked, is related to nonsyndromic deafness and sensorineural hearing loss. An important gene associated with Dfnb1 is GJB2 (gap junction protein, beta 2, 26kDa), and among its related pathways are Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane and Calcium Regulation in the Cardiac Cell. The compounds 10panx and gap 27 have been mentioned in the context of this disorder. Related mouse phenotypes are nervous system and hearing/vestibular/ear.

Aliases & Classifications for Dfnb1

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42NIH Rare Diseases, 44Novoseek, 60UMLS
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Classifications:

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


Aliases & Descriptions:

dfnb1 42 44
deafness nonsyndromic, connexin 26 linked 42
gjb2-related deafness 42
complete hearing loss 60
connexin 26 deafness 42


Related Diseases for Dfnb1

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17GeneCards, 18GeneDecks
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Diseases related to Dfnb1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1nonsyndromic deafness30.4MYO7A, GJB2, GJB6, OTOF, GJB3, PCDH15
2sensorineural hearing loss29.9GJB3, GJB2
3nonsyndromic hearing loss and deafness, dfnb110.3
4autosomal recessive nonsyndromic deafness10.1
5x-linked nonsyndromic deafness10.0
6pendred syndrome10.0
7congenital deafness with labyrinthine aplasia, microtia, and microdontia10.0
8otof-related deafness10.0
9deafness with labyrinthine aplasia microtia and microdontia10.0
10deafness, x-linked 210.0
11keratoderma palmoplantar deafness10.0
12familial deafness10.0
13renal tubular acidosis with deafness10.0
14deafness, autosomal recessive 9810.0
15deafness, x-linked 410.0
16deafness, x-linked 310.0
17deafness, x-linked 110.0
18deafness, x-linked 510.0
19deafness, y-linked 110.0
20rare deafness10.0
21limb-girdle muscular dystrophy10.0
22muscular dystrophy10.0
23ectodermal dysplasia10.0GJB2
24keratoderma10.0GJB2
25keratosis10.0GJB2
26keratitis10.0GJB2
27palmoplantar keratosis10.0GJB6
28neuropathy10.0OTOF
29dfnb 1 nonsyndromic hearing loss and deafness10.0GJB2, GJB6
30dfna 3 nonsyndromic hearing loss and deafness10.0GJB2, GJB6
31bart-pumphrey syndrome10.0GJB6, GJB2
32erythrokeratodermia variabilis10.0GJB2, GJB3
33usher syndrome type i10.0PCDH15, MYO7A
34hodgkin's lymphoma, nodular sclerosis10.0GJB6, GJB3
35nonepidermolytic palmoplantar keratoderma10.0GJB3, GJB2
36skin disease10.0GJB3
37usher syndrome10.0MYO7A, PCDH15, GJB2
38clouston syndrome10.0GJB2, GJB3, GJB6
39enlarged vestibular aqueduct10.0GJB3, GJB2, GJB6
40rhyns syndrome10.0MYO7A, PCDH15
41hidrotic ectodermal dysplasia 210.0GJB6, GJB2, TUBA3C

Graphical network of the top 20 diseases related to Dfnb1:



Diseases related to dfnb1

Clinical Features for Dfnb1

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Drugs & Therapeutics for Dfnb1

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Dfnb1

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Anatomical Context for Dfnb1

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Animal Models for Dfnb1 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Dfnb1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.3OTOF, GJB2, GJB6, PCDH15, MYO7A
2MP:00053778.2OTOF, GJB2, GJB6, PCDH15, MYO7A
3MP:00030128.1MYO7A, GJB6, GJB3, GJB2, OTOF

Publications for Dfnb1

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Genetic Variations for Dfnb1

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Expression for genes affiliated with Dfnb1

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dfnb1

Search GEO for disease gene expression data for Dfnb1.

Pathways for genes affiliated with Dfnb1

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Sources:
53Reactome, 37NCBI BioSystems Database, 12EMD Millipore, 51QIAGEN, 29KEGG
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Compounds for genes affiliated with Dfnb1

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Sources:
59Tocris Bioscience, 28IUPHAR, 24HMDB, 44Novoseek, 2BitterDB, 11DrugBank
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Compounds related to Dfnb1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
110panx599.4GJB2, GJB6, GJB3
2gap 27599.4GJB6, GJB3, GJB2
3carbenoxolone disodium599.3GJB6, GJB3, GJB2
4scrambled 10panx599.3GJB6, GJB3, GJB2
5octanol28 2410.2GJB6, GJB3, GJB2
6flufenamic acid44 28 2 1112.2GJB2, GJB3, GJB6
7carbenoxolone28 44 1111.1GJB2, GJB3, GJB6
8ca2+288.9GJB6, GJB3, GJB2

GO Terms for genes affiliated with Dfnb1

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16Gene Ontology
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Cellular components related to Dfnb1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:0017509.4PCDH15, MYO7A
2stereociliumGO:0324209.1PCDH15, MYO7A
3connexon complexGO:0059229.1GJB2, GJB3, GJB6

Biological processes related to Dfnb1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell communicationGO:0071549.6GJB3, GJB6
2equilibrioceptionGO:0509579.3MYO7A, PCDH15
3sensory perception of light stimulusGO:0509539.1PCDH15, MYO7A
4sensory perception of soundGO:0076057.7OTOF, GJB2, GJB3, GJB6, PCDH15, MYO7A

Molecular functions related to Dfnb1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:0052439.6GJB2, GJB3

Products for genes affiliated with Dfnb1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dfnb1

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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