MCID: DFN117
MIFTS: 40

Deafness, Autosomal Dominant 15

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Ear diseases, Fetal diseases, Cardiovascular diseases, Blood diseases

Aliases & Classifications for Deafness, Autosomal Dominant 15

MalaCards integrated aliases for Deafness, Autosomal Dominant 15:

Name: Deafness, Autosomal Dominant 15 53 28 13 69
Dfna15 53 12 71 51
Autosomal Dominant Nonsyndromic Deafness 15 12 14
Deafness, Autosomal Dominant, 15 71
Autosomal Dominant Deafness 15 12

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset between the second and sixth decades
intrafamilial variability


HPO:

31
deafness, autosomal dominant 15:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 602459
Disease Ontology 12 DOID:0110546
ICD10 32 H90.3
MedGen 39 C1865366
MeSH 41 D006319
UMLS 69 C1865366

Summaries for Deafness, Autosomal Dominant 15

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has material basis in mutation in the POU4F3 gene on chromosome 5q32.

MalaCards based summary : Deafness, Autosomal Dominant 15, also known as dfna15, is related to deafness, autosomal dominant 9 and branchiootic syndrome 1, and has symptoms including hearing impairment An important gene associated with Deafness, Autosomal Dominant 15 is POU4F3 (POU Class 4 Homeobox 3), and among its related pathways/superpathways are Nuclear Receptor transcription pathway and Regulation of Telomerase. Related phenotypes are shRNA abundance <= 50% and mortality/aging

OMIM : 53 Autosomal dominant deafness-15 is a form of progressive nonsyndromic sensorineural hearing loss with postlingual onset between the second and sixth decades of life (summary by Kim et al., 2013). (602459)

UniProtKB/Swiss-Prot : 71 Deafness, autosomal dominant, 15: A form of non-syndromic hearing loss with variable phenotype in terms of age at onset, levels of progression, and shape of audiograms.

Related Diseases for Deafness, Autosomal Dominant 15

Diseases in the Familial Deafness family:

Deafness, Autosomal Dominant 1 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Recessive 2 Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 4a
Deafness, Autosomal Recessive 5 Deafness, Autosomal Dominant 6
Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 7
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive 8 Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 9
Deafness, Autosomal Recessive 12 Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 12 Deafness, Autosomal Dominant 3a
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 18a Deafness, Autosomal Dominant 15
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 13
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 20
Deafness, Autosomal Dominant 20 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 25
Deafness, Autosomal Recessive 27 Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 24 Deafness, Autosomal Dominant 22
Deafness, Autosomal Dominant 30 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 31 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive Deafness, Autosomal Recessive 33
Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 37 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 41
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 39
Deafness, Autosomal Dominant 49 Deafness, Autosomal Dominant 43
Deafness, Autosomal Recessive 35 Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 31 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 48
Deafness, Autosomal Recessive 23 Deafness, Autosomal Recessive 42
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 28 Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 47 Deafness, Autosomal Recessive 55
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 49 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 66 Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 63 Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 45 Deafness, Autosomal Dominant 59
Deafness, Autosomal Dominant 3b Deafness, Autosomal Dominant 2b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Recessive 71
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 25 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 51
Deafness, Autosomal Recessive 83 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 89
Deafness, Autosomal Recessive 29 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 33 Deafness, Autosomal Recessive 96
Deafness, Autosomal Dominant 4b Deafness, Autosomal Recessive 86
Deafness, Autosomal Recessive 98 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 70 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Recessive 18b Deafness, Autosomal Recessive 88
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 56
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 58
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 102
Deafness, Autosomal Recessive 103 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 67 Deafness, Autosomal Dominant 40
Deafness, Autosomal Recessive 104 Deafness, Autosomal Dominant 69
Deafness, Autosomal Recessive 97 Deafness, Autosomal Dominant 68
Deafness, Autosomal Recessive 105 Deafness, Autosomal Dominant 70
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 71
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 106
Deafness, Autosomal Recessive 107 Deafness, Autosomal Recessive 108
Deafness, Autosomal Dominant 73 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86

Diseases related to Deafness, Autosomal Dominant 15 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 9 10.2 FAM136A POU4F3
2 branchiootic syndrome 1 10.1
3 deafness, autosomal dominant 28 10.0 DTNA FAM136A
4 autosomal dominant non-syndromic sensorineural deafness type dfna 10.0 MYO6 POU4F3
5 deafness, autosomal dominant 11 10.0 FAM136A MYO6 POU4F3
6 autosomal dominant nonsyndromic deafness 9.9 FAM136A MYO6 POU4F3
7 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
8 bosch-boonstra-schaaf optic atrophy syndrome 9.9 NR2F1 NR2F2
9 pulmonic stenosis 9.9 DTNA NR2F2
10 meniere disease 9.8 DTNA FAM136A

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 15:



Diseases related to Deafness, Autosomal Dominant 15

Symptoms & Phenotypes for Deafness, Autosomal Dominant 15

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, postlingual sensorineural
downward sloping or flat audiogram


Clinical features from OMIM:

602459

Human phenotypes related to Deafness, Autosomal Dominant 15:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 obligate (100%) HP:0000365

GenomeRNAi Phenotypes related to Deafness, Autosomal Dominant 15 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.1 LHX3 NR2F1 NR2F2 POU4F3 SDHC SP1

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 15:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.76 DTNA LHX3 MYO6 NR2F1 NR2F2 POU4F3
2 hearing/vestibular/ear MP:0005377 9.56 LHX3 MYO6 NR2F1 POU4F3
3 nervous system MP:0003631 9.43 DTNA LHX3 MYO6 NR2F1 NR2F2 POU4F3
4 vision/eye MP:0005391 9.02 SP1 MYO6 NR2F1 NR2F2 POU4F3

Drugs & Therapeutics for Deafness, Autosomal Dominant 15

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prevalence of POU4F3 and SLC17A8 Mutations Terminated NCT01802190

Search NIH Clinical Center for Deafness, Autosomal Dominant 15

Genetic Tests for Deafness, Autosomal Dominant 15

Genetic tests related to Deafness, Autosomal Dominant 15:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 15 28 POU4F3

Anatomical Context for Deafness, Autosomal Dominant 15

Publications for Deafness, Autosomal Dominant 15

Articles related to Deafness, Autosomal Dominant 15:

# Title Authors Year
1
Regulation of the orphan nuclear receptor Nr2f2 by the DFNA15 deafness gene Pou4f3. ( 25372459 )
2014
2
SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15). ( 24260153 )
2013
3
Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3. ( 19372648 )
2009
4
Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3. ( 19462854 )
2009
5
Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3. ( 18347256 )
2008
6
Molecular modelling insights into DFNA15 mediated enhancement of POU4F3 stability. ( 20054994 )
2008
7
Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding. ( 18228599 )
2008
8
Identification and functional analysis of common sequence variants in the DFNA15 gene, Brn-3c. ( 17611044 )
2007
9
The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity. ( 14585957 )
2003

Variations for Deafness, Autosomal Dominant 15

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 15:

71
# Symbol AA change Variation ID SNP ID
1 POU4F3 p.Leu223Pro VAR_045682 rs121909057
2 POU4F3 p.Leu289Phe VAR_045683 rs121909056
3 POU4F3 p.Asp64Val VAR_079859
4 POU4F3 p.Phe194Tyr VAR_079863
5 POU4F3 p.Ser222Leu VAR_079864
6 POU4F3 p.Asn240Tyr VAR_079866
7 POU4F3 p.Ile281Val VAR_079867
8 POU4F3 p.Pro299Leu VAR_079868
9 POU4F3 p.Arg326Lys VAR_079870 rs398123070
10 POU4F3 p.Lys328Glu VAR_079871

ClinVar genetic disease variations for Deafness, Autosomal Dominant 15:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POU4F3 NM_002700.2(POU4F3): c.977G> A (p.Arg326Lys) single nucleotide variant Pathogenic rs398123070 GRCh37 Chromosome 5, 145719967: 145719967
2 POU4F3 NM_002700.2(POU4F3): c.662_675delGCTCGCTGAGCCAA (p.Gly221Glufs) deletion Pathogenic rs1064792854 GRCh37 Chromosome 5, 145719652: 145719665
3 POU4F3 NM_002700.2(POU4F3): c.880_887delGCTATCCA (p.Ile295Thrfs) deletion Pathogenic rs398124631 GRCh37 Chromosome 5, 145719870: 145719877
4 POU4F3 NM_002700.2(POU4F3): c.865C> T (p.Leu289Phe) single nucleotide variant Pathogenic rs121909056 GRCh37 Chromosome 5, 145719855: 145719855
5 POU4F3 NM_002700.2(POU4F3): c.668T> C (p.Leu223Pro) single nucleotide variant Pathogenic rs121909057 GRCh37 Chromosome 5, 145719658: 145719658

Expression for Deafness, Autosomal Dominant 15

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 15.

Pathways for Deafness, Autosomal Dominant 15

Pathways related to Deafness, Autosomal Dominant 15 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.28 NR2F1 NR2F2
2 11.08 NR2F2 SP1
3
Show member pathways
10.82 NR2F2 SP1
4 10.35 NR2F1 SP1
5 9.85 NR2F1 NR2F2

GO Terms for Deafness, Autosomal Dominant 15

Biological processes related to Deafness, Autosomal Dominant 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 steroid hormone mediated signaling pathway GO:0043401 9.26 NR2F1 NR2F2
2 inner ear development GO:0048839 9.16 LHX3 POU4F3
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.02 LHX3 MYO6 NR2F1 POU4F3 SP1
4 intracellular receptor signaling pathway GO:0030522 8.96 NR2F1 NR2F2

Molecular functions related to Deafness, Autosomal Dominant 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.67 NR2F1 NR2F2 POU4F3 SP1
2 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.43 LHX3 POU4F3 SP1
3 steroid hormone receptor activity GO:0003707 9.32 NR2F1 NR2F2
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.26 LHX3 NR2F1 POU4F3 SP1
5 nuclear receptor activity GO:0004879 9.16 NR2F1 NR2F2
6 sequence-specific DNA binding GO:0043565 9.02 LHX3 NR2F1 NR2F2 POU4F3 SP1

Sources for Deafness, Autosomal Dominant 15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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