MCID: ATS251
MIFTS: 26

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna malady

Categories: Ear diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type...

Aliases & Descriptions for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna:

Name: Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 56 29
Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna 56
Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna 56
Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna 56
Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna 56
Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna 56
Autosomal Dominant Isolated Sensorineural Deafness Type Dfna 56
Autosomal Dominant Isolated Neurosensory Deafness Type Dfna 56

Characteristics:

Orphanet epidemiological data:

56
autosomal dominant non-syndromic sensorineural deafness type dfna
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 56 ORPHA90635
ICD10 via Orphanet 34 H90.3

Summaries for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type...

MalaCards based summary : Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna, also known as autosomal dominant non-syndromic sensorineural hearing loss type dfna, is related to dnase1-related susceptibility to systemic lupus erythematosus and down syndrome-related congenital heart disease. An important gene associated with Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna is GJB6 (Gap Junction Protein Beta 6), and among its related pathways/superpathways is Gap junction trafficking. Related phenotypes are growth/size/body region and craniofacial

Related Diseases for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type...

Diseases related to Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
id Related Disease Score Top Affiliating Genes
1 dnase1-related susceptibility to systemic lupus erythematosus 10.4 GJB2 GJB6
2 down syndrome-related congenital heart disease 10.4 GJB2 GJB6
3 spastic ataxia, charlevoix-saguenay type 10.4 GJB2 GJB6
4 pik3ca-related segmental overgrowth 10.4 GJB2 GJB6
5 bietti crystalline corneoretinal dystrophy 10.4 GJB2 GJB6
6 pink1 type of young-onset parkinson disease 10.4 GJB2 GJB3 GJB6
7 keratoderma, palmoplantar, with deafness 10.4 GJB2 GJB3 GJB6
8 klumpke paralysis 10.4 GJB2 GJB3 GJB6
9 pseudomyotonia 10.4 GJB2 GJB3 GJB6
10 molluscum contagiosum 10.4 GJB2 GJB3 GJB6
11 die smulders droog van dijk syndrome 10.4 GJB2 GJB3 GJB6
12 hereditary thrombocytosis with transverse limb defect 10.4 GJB2 GJB3
13 erythrokeratodermia variabilis et progressiva 10.3 GJB2 GJB3 GJB6
14 inflammatory bowel disease 5 10.3 DIAPH1 WFS1
15 dementia, familial british 10.3 GJB2 GJB3 GJB6
16 pigmented nodular adrenocortical disease, primary, 2 10.3 DIAPH3 GJB2
17 lung cancer susceptibility 5 10.3 CCDC50 COL11A2 EYA4
18 hirschsprung disease 2 10.3 DIAPH3 GJB2
19 autoimmune gastrointestinal dysmotility 10.3 DIAPH3 GJB2 GJB6
20 autosomal dominant nonsyndromic deafness 66 10.3 CCDC50 COL11A2 DFNA5
21 hereditary colorectal cancer 10.3 GJB2 KCNQ4
22 erythrocytosis due to bisphosphoglycerate mutase deficiency 10.3 DFNA5 GJB2 GJB3 GJB6
23 retinitis pigmentosa 63 10.3 CCDC50 COL11A2 EYA4 GRHL2
24 hypertrichosis universalis congenita, ambras type 10.3 EYA4 GRHL2
25 mitochondrial non-syndromic sensorineural deafness 10.3 COL11A2 GJB2 GJB3 GJB6
26 leprosy 4 10.3 COL11A2 DIAPH1 GJB2 GJB3
27 spastic paraplegia 32, autosomal recessive 10.3 COCH DFNA5
28 deafness, autosomal dominant 2a 10.3 COCH GJB2 GJB6 KCNQ4 WFS1
29 ectodermal dysplasia 2, clouston type 10.3 GJB2 GJB6
30 efemp2-related cutis laxa 10.3 GJB2 GRHL2
31 narcissistic personality disorder 10.3 COCH GJB2 GJB3 GJB6 KCNQ4
32 bartter syndrome, type 1 10.3 COCH COL11A2 GJB2 GJB6 WFS1
33 obesity susceptibility, agrp-related 10.3 CCDC50 CRYM DFNA5 GRHL2 WFS1
34 troyer syndrome 10.2 GJB2 GJB6
35 cockayne syndrome 10.2 COCH GJB2 GJB3 GJB6 KCNQ4 WFS1
36 autosomal dominant nonsyndromic deafness 69 10.2 COCH COL11A2 DFNA5 DIAPH1 GJB2 WFS1
37 congenital herpes simplex 10.2 GJB2 GJB6
38 fibrochondrogenesis 2 10.1 CCDC50 COCH COL11A2 DFNA5 EYA4 GJB2
39 duodenum cancer 10.1 COCH DFNA5 EYA4 GJB2 GJB3 GJB6
40 orofacial cleft 10.1 CD164 CEACAM16 COCH GJB2 HOMER2 KCNQ4
41 obesity susceptibility, adrb3-related 9.9 CCDC50 CEACAM16 COCH COL11A2 DFNA5 DIAPH1
42 x-linked nonsyndromic deafness 9.6 CD164 CEACAM16 COCH COL11A2 CRYM DFNA5
43 telangiectasia macularis eruptiva perstans 9.4 CCDC50 CD164 CEACAM16 COCH COL11A2 CRYM

Graphical network of the top 20 diseases related to Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna:



Diseases related to Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Symptoms & Phenotypes for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type...

MGI Mouse Phenotypes related to Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.9 GRHL2 KITLG COL11A2 MCM2 WFS1 CRYM
2 craniofacial MP:0005382 9.73 GJB2 GRHL2 KITLG COL11A2 DIAPH1 EYA4
3 hearing/vestibular/ear MP:0005377 9.65 GJB6 KCNQ4 KITLG CEACAM16 COCH COL11A2
4 integument MP:0010771 9.23 GJB3 GJB6 HOMER2 KITLG MCM2 WFS1

Drugs & Therapeutics for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type...

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Genetic Tests for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type...

Genetic tests related to Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna:

id Genetic test Affiliating Genes
1 Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 29

Anatomical Context for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type...

Publications for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type...

Variations for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type...

Expression for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type...

Search GEO for disease gene expression data for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna.

Pathways for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type...

Pathways related to Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.79 GJB2 GJB3 GJB6

GO Terms for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type...

Cellular components related to Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 stereocilium tip GO:0032426 9.16 CEACAM16 HOMER2
2 gap junction GO:0005921 9.13 GJB2 GJB3 GJB6
3 connexin complex GO:0005922 8.8 GJB2 GJB3 GJB6

Biological processes related to Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.44 CCDC50 CEACAM16 COCH COL11A2 CRYM DFNA5
2 inner ear development GO:0048839 9.33 EYA4 GJB2 GJB6
3 cellular component organization GO:0016043 9.26 DIAPH1 DIAPH3
4 cell communication GO:0007154 9.13 GJB2 GJB3 GJB6

Molecular functions related to Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.62 GJB2 GJB3

Sources for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type...

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