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 59 29 6
Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna 59
Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna 59
Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna 59
Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna 59
Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna 59
Autosomal Dominant Isolated Sensorineural Deafness Type Dfna 59
Autosomal Dominant Isolated Neurosensory Deafness Type Dfna 59

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant non-syndromic sensorineural deafness type dfna
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:



External Ids:

ICD10 via Orphanet 34 H90.3
Orphanet 59 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 hypotrichosis-deafness syndrome and deafness, autosomal dominant 44. 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 phenotypes are craniofacial and 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 all 39)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis-deafness syndrome 10.8 GJB3 GJB2
2 deafness, autosomal dominant 44 10.7 EYA4 COL11A2 CCDC50
3 deafness, autosomal dominant 24 10.7 GJB6 GJB2
4 deafness, autosomal recessive 59 10.7 GJB2 DIAPH3
5 deafness, autosomal recessive 93 10.7 GJB3 GJB2
6 deafness, autosomal dominant 12 10.7 GSDME COL11A2 CCDC50
7 kid syndrome 10.7 GJB6 GJB3 GJB2
8 deafness, autosomal recessive 28 10.7 GJB3 GJB2
9 autosomal dominant nonsyndromic deafness 10.7 EYA4 COL11A2 COCH ACTG1
10 pseudoainhum 10.7 GJB6 GJB3 GJB2
11 hodgkin's lymphoma, nodular sclerosis 10.7 GJB6 GJB3 GJB2
12 knuckle pads, leukonychia, and sensorineural deafness 10.7 GJB6 GJB2
13 deafness, autosomal recessive 67 10.7 GJB3 GJB2 COL11A2
14 deafness, x-linked 2 10.7 GJB6 GJB2
15 deafness, autosomal recessive 1a 10.7 GJB6 GJB3 GJB2
16 knuckle pads 10.7 GJB6 GJB3 GJB2
17 deafness, autosomal dominant 10 10.6 GRHL2 EYA4 COL11A2 CCDC50
18 deafness, autosomal recessive 16 10.6 GJB6 GJB2 COL11A2 COCH
19 erythrokeratodermia variabilis et progressiva 1 10.6 GJB6 GJB3 GJB2
20 dfnb1 10.6 GJB6 GJB2
21 auditory neuropathy, autosomal dominant, 1 10.6 GJB2 DIAPH3
22 clouston syndrome 10.6 GJB6 GJB3 GJB2
23 deafness, autosomal dominant 6 10.6 GSDME GJB2 COL11A2 COCH
24 vestibular disease 10.6 GJB6 GJB3 GJB2 COCH
25 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.6 GJB6 GJB3 GJB2 COCH
26 deafness, autosomal dominant 9 10.6 GSDME COCH
27 deafness, autosomal dominant 2a 10.6 KCNQ4 GJB6 GJB2 COCH
28 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.6 GJB6 GJB3 GJB2 COL11A2
29 vohwinkel syndrome 10.5 GJB6 GJB2
30 inner ear disease 10.5 KCNQ4 GJB6 GJB3 GJB2 COCH
31 congenital cytomegalovirus 10.5 GJB6 GJB2
32 non-syndromic genetic deafness 10.5 KCNQ4 GSDME GJB2 COCH CEACAM16
33 deafness, autosomal dominant 13 10.4 GSDME GJB2 EYA4 COL11A2 COCH CCDC50
34 deafness, autosomal recessive 23 10.4 GJB6 GJB2
35 auditory system disease 10.4 KCNQ4 GJB6 GJB3 GJB2 EYA4 COCH
36 ectodermal dysplasia 10.3 GRHL2 GJB6 GJB2
37 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.2 GJB3 GJB2
38 sensorineural hearing loss 10.0 KCNQ4 GSDME GRHL2 GJB6 GJB3 GJB2
39 nonsyndromic deafness 9.6 KCNQ4 GSDME GJB6 GJB3 GJB2 EYA4

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.43 COL11A2 DIAPH3 EYA4 GJB2 GRHL2 KITLG
2 hearing/vestibular/ear MP:0005377 9.36 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 129)
# Title Authors PMID Year
1
Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1). 71
27808407 2017
2
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. 71
26912466 2016
3
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. 71
26522471 2015
4
R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17. 71
24890873 2015
5
A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment. 71
26197441 2015
6
HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice. 71
25816005 2015
7
Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing. 71
25077649 2015
8
Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family. 71
25589040 2015
9
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). 71
25759012 2015
10
TBC1D24-Related Disorders 71
25719194 2015
11
Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family. 71
26196677 2015
12
c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family. 71
25505834 2014
13
TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. 71
24729539 2014
14
A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment. 71
24729547 2014
15
Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness. 71
24616153 2014
16
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 71
24651602 2014
17
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss. 71
24211385 2014
18
A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family. 71
24827932 2014
19
Confirmation of GRHL2 as the gene for the DFNA28 locus. 71
23813623 2013
20
Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise. 71
23345450 2013
21
SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15). 71
24260153 2013
22
Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss. 71
23936043 2013
23
A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans. 71
21700001 2011
24
Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64. 71
21722859 2011
25
Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4). 71
21368133 2011
26
Cellular and molecular mechanisms of autosomal dominant form of progressive hearing loss, DFNA2. 71
20966080 2011
27
Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China. 71
21150918 2011
28
A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome. 71
20854437 2011
29
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. 71
20858605 2010
30
Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30. 71
20442751 2010
31
Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila. 71
20624953 2010
32
A novel frameshift mutation of POU4F3 gene associated with autosomal dominant non-syndromic hearing loss. 71
20434433 2010
33
Evidence for a founder mutation causing DFNA5 hearing loss in East Asians. 71
19911014 2010
34
In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment. 71
19477959 2009
35
Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss. 71
19363479 2009
36
Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment. 71
19180119 2009
37
WFS1-Related Disorders 71
20301750 2009
38
Mutation in the COCH gene is associated with superior semicircular canal dehiscence. 71
19161137 2009
39
Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer. 71
18575463 2008
40
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1. 71
18688868 2008
41
Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. 71
18674745 2008
42
Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene. 71
18544103 2008
43
DFNA2 Nonsyndromic Hearing Loss 71
20301388 2008
44
Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding. 71
18228599 2008
45
Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families. 71
18312449 2008
46
A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression. 71
18030493 2008
47
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. 71
17868390 2007
48
Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree. 71
17661817 2007
49
Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain. 71
17567890 2007
50
A novel splice site mutation in EYA4 causes DFNA10 hearing loss. 71
17568404 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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PDE1C NM_001322059.1(PDE1C): c.1183G> T (p.Ala395Ser) single nucleotide variant Pathogenic/Likely pathogenic rs775633137 7:31890328-31890328 7:31850714-31850714

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 stereocilium tip GO:0032426 9.16 HOMER2 CEACAM16
2 gap junction GO:0005921 9.13 GJB6 GJB3 GJB2
3 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 sensory perception of sound GO:0007605 9.36 KCNQ4 HOMER2 GSDME GJB6 GJB2 EYA4
2 inner ear development GO:0048839 9.33 GJB6 GJB2 EYA4
3 cell junction assembly GO:0034329 9.26 GRHL2 ACTG1
4 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 GO:0005243 8.62 GJB3 GJB2

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

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