MCID: ATS251
MIFTS: 31

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Categories: Ear diseases, Neuronal diseases, Rare diseases

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

MalaCards integrated aliases for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna:

Name: Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 58 29 6
Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna 58
Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna 58
Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna 58
Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna 58
Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna 58
Autosomal Dominant Isolated Sensorineural Deafness Type Dfna 58
Autosomal Dominant Isolated Neurosensory Deafness Type Dfna 58

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant non-syndromic sensorineural deafness type dfna
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases


External Ids:

ICD10 via Orphanet 33 H90.3
Orphanet 58 ORPHA90635

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 deafness, autosomal dominant 1 and deafness, autosomal dominant 43. An important gene associated with Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna is PDE1C (Phosphodiesterase 1C), and among its related pathways/superpathways are G-Beta Gamma Signaling and Myometrial Relaxation and Contraction Pathways. Related phenotype is hearing/vestibular/ear.

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 top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 1 10.7 GJB2 DIAPH3
2 deafness, autosomal dominant 43 10.6 COCH CCDC50
3 nonsyndromic hearing loss and deafness, dfna3 10.6 GJB6 GJB2
4 deafness, autosomal recessive 53 10.6 COL11A2 CEACAM16 CCDC50
5 hypotrichosis-deafness syndrome 10.6 GJB3 GJB2
6 deafness, autosomal recessive 84b 10.6 COL11A2 CEACAM16
7 nonsyndromic deafness 10.6 KCNQ4 GJB2 COL11A2
8 purulent labyrinthitis 10.5 GJB6 GJB2
9 viral labyrinthitis 10.5 GJB6 GJB2
10 deafness, autosomal recessive 21 10.5 GJB2 COL11A2 CEACAM16
11 hereditary lymphedema ic 10.5 GJB3 GJB2
12 palmoplantar keratoderma and congenital alopecia 1 10.5 GJB3 GJB2
13 deafness, autosomal dominant 21 10.5 GSDME EYA4 COL11A2
14 nonsyndromic hearing loss and deafness, dfnb1 10.5 GJB6 GJB3 GJB2
15 dfnb1 10.5 GJB6 GJB3 GJB2
16 deafness, autosomal dominant 4b 10.5 GJB3 CEACAM16
17 pseudoainhum 10.5 GJB6 GJB3 GJB2
18 y-linked deafness 10.5 KCNQ4 GSDME
19 congenital cytomegalovirus 10.5 GJB6 GJB2
20 deafness, autosomal dominant 11 10.5 GSDME GJB2 COCH
21 deafness, autosomal dominant 51 10.5 GSDME CCDC50
22 bart-pumphrey syndrome 10.5 GJB6 GJB3 GJB2
23 knuckle pads 10.5 GJB6 GJB3 GJB2
24 keratoderma, palmoplantar, with deafness 10.5 GJB6 GJB3 GJB2
25 clouston syndrome 10.5 GJB6 GJB3 GJB2
26 peripheral vertigo 10.5 KCNQ4 GJB2 COCH
27 waardenburg syndrome, type 1 10.5 GSDME GJB2 COCH
28 x-linked nonsyndromic deafness 10.5 GJB6 GJB3 GJB2
29 deafness, autosomal dominant 25 10.5 KCNQ4 COCH CEACAM16 CCDC50
30 oculodentodigital dysplasia 10.5 GJB6 GJB3 GJB2
31 chronic purulent otitis media 10.5 EYA4 COCH
32 erythrokeratoderma 10.5 GJB3 GJB2
33 y-linked monogenic disease 10.5 KCNQ4 GSDME
34 vohwinkel syndrome 10.5 GJB6 GJB3 GJB2
35 deafness, autosomal dominant 16 10.5 KCNQ4 GJB3 COCH CCDC50
36 erythrokeratodermia variabilis et progressiva 1 10.5 GJB6 GJB3 GJB2
37 keratitis-ichthyosis-deafness syndrome, autosomal dominant 10.5 GJB6 GJB2
38 non-syndromic genetic deafness 10.5 KCNQ4 GJB2 COCH CEACAM16
39 usher syndrome 10.5 GJB6 GJB2 COCH ACTG1
40 palmoplantar keratosis 10.5 GJB6 GJB3 GJB2
41 deafness, autosomal dominant 3b 10.5 GJB6 GJB3 GJB2 CEACAM16
42 cogan syndrome 10.5 GJB2 COCH
43 deafness, autosomal dominant 64 10.5 KCNQ4 GJB2 DIABLO CEACAM16
44 deafness, autosomal recessive 1b 10.4 GJB6 GJB3 GJB2 CEACAM16
45 deafness, autosomal dominant 20 10.4 KCNQ4 GSDME COCH ACTG1
46 deafness, autosomal dominant 41 10.4 PDE1C KCNQ4 GSDME GJB2
47 deafness, x-linked 2 10.4 GJB6 GJB3 GJB2 COCH
48 deafness, autosomal dominant 56 10.4 GJB2 COCH
49 drug-induced hearing loss 10.4 GJB3 GJB2
50 deafness, autosomal dominant 44 10.4 KCNQ4 EYA4 COL11A2 COCH CCDC50

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.4 ACTG1 CEACAM16 COCH COL11A2 CRYM EYA4

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:

# 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...

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

(show top 50) (show all 132)
# Title Authors PMID Year
1
Defects in the Alternative Splicing-Dependent Regulation of REST Cause Deafness. 6
29961578 2018
2
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction. 6
29754270 2018
3
Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease. 6
28815995 2017
4
Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1). 6
27808407 2017
5
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. 6
26912466 2016
6
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. 6
26522471 2015
7
R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17. 6
24890873 2015
8
A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment. 6
26197441 2015
9
HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice. 6
25816005 2015
10
Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing. 6
25077649 2015
11
Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family. 6
25589040 2015
12
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). 6
25759012 2015
13
TBC1D24-Related Disorders 6
25719194 2015
14
Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family. 6
26196677 2015
15
c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family. 6
25505834 2014
16
TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. 6
24729539 2014
17
A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment. 6
24729547 2014
18
Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness. 6
24616153 2014
19
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
20
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss. 6
24211385 2014
21
A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family. 6
24827932 2014
22
Confirmation of GRHL2 as the gene for the DFNA28 locus. 6
23813623 2013
23
Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise. 6
23345450 2013
24
Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss. 6
23936043 2013
25
SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15). 6
24260153 2013
26
A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans. 6
21700001 2011
27
Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64. 6
21722859 2011
28
Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4). 6
21368133 2011
29
Cellular and molecular mechanisms of autosomal dominant form of progressive hearing loss, DFNA2. 6
20966080 2011
30
A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome. 6
20854437 2011
31
Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China. 6
21150918 2011
32
The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice. 6
20858605 2010
33
Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30. 6
20442751 2010
34
Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila. 6
20624953 2010
35
A novel frameshift mutation of POU4F3 gene associated with autosomal dominant non-syndromic hearing loss. 6
20434433 2010
36
Evidence for a founder mutation causing DFNA5 hearing loss in East Asians. 6
19911014 2010
37
In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment. 6
19477959 2009
38
Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss. 6
19363479 2009
39
Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment. 6
19180119 2009
40
WFS1 Wolfram Syndrome Spectrum Disorder 6
20301750 2009
41
Mutation in the COCH gene is associated with superior semicircular canal dehiscence. 6
19161137 2009
42
Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer. 6
18575463 2008
43
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1. 6
18688868 2008
44
Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. 6
18674745 2008
45
Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene. 6
18544103 2008
46
DFNA2 Nonsyndromic Hearing Loss 6
20301388 2008
47
Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families. 6
18312449 2008
48
Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding. 6
18228599 2008
49
A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression. 6
18030493 2008
50
A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family. 6
17868390 2007

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

ClinVar genetic disease variations for Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PDE1C NM_001191057.4(PDE1C):c.778G>T (p.Ala260Ser)SNV Pathogenic/Likely pathogenic 433528 rs775633137 7:31890328-31890328 7:31850714-31850714
2 PLS1 NM_001145319.2(PLS1):c.383T>C (p.Phe128Ser)SNV Pathogenic/Likely pathogenic 633603 3:142395017-142395017 3:142676175-142676175

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.42 PDE1C GJB6 GJB3 GJB2 ACTG1
2
Show member pathways
11.75 GJB6 GJB3 GJB2 ACTG1
3
Show member pathways
10.79 GJB6 GJB3 GJB2

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:

# Name GO ID Score Top Affiliating Genes
1 actin filament GO:0005884 9.33 PLS1 GJB6 ACTG1
2 stereocilium tip GO:0032426 9.26 HOMER2 CEACAM16
3 gap junction GO:0005921 9.13 GJB6 GJB3 GJB2
4 connexin complex GO:0005922 8.8 GJB6 GJB3 GJB2

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

# Name GO ID Score Top Affiliating Genes
1 inner ear development GO:0048839 9.43 GJB6 GJB2 EYA4
2 cell junction assembly GO:0034329 9.4 GRHL2 ACTG1
3 gap junction assembly GO:0016264 9.37 GJB6 GJB2
4 sensory perception of sound GO:0007605 9.36 KCNQ4 HOMER2 GSDME GJB6 GJB2 EYA4
5 cell communication by electrical coupling GO:0010644 9.32 GJB6 GJB2
6 gap junction-mediated intercellular transport GO:1990349 9.16 GJB6 GJB2
7 cell communication GO:0007154 9.13 GJB6 GJB3 GJB2

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

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.96 GJB6 GJB2
2 gap junction channel activity GO:0005243 8.8 GJB6 GJB3 GJB2

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

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72 UMLS via Orphanet
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