DFNA5
MCID: DFN159
MIFTS: 30

Deafness, Autosomal Dominant 5 (DFNA5)

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

Aliases & Classifications for Deafness, Autosomal Dominant 5

MalaCards integrated aliases for Deafness, Autosomal Dominant 5:

Name: Deafness, Autosomal Dominant 5 58 30 13 6 74
Dfna5 58 12 76
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 5 76
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 5 76
Autosomal Dominant Nonsyndromic Deafness 5 12
Deafness, Autosomal Dominant, Type 5 41
Deafness, Autosomal Dominant, 5 76
Autosomal Dominant Deafness 5 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable age of onset, ranging from 11 to 50 years


HPO:

33
deafness, autosomal dominant 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110575
OMIM 58 600994
MeSH 45 D006319
ICD10 34 H90.3
MedGen 43 C1832932
SNOMED-CT via HPO 70 263681008
UMLS 74 C1832932

Summaries for Deafness, Autosomal Dominant 5

UniProtKB/Swiss-Prot : 76 Deafness, autosomal dominant, 5: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

MalaCards based summary : Deafness, Autosomal Dominant 5, also known as dfna5, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and breast cancer. An important gene associated with Deafness, Autosomal Dominant 5 is GSDME (Gasdermin E). Affiliated tissues include brain, breast and testes, and related phenotype is progressive sensorineural hearing impairment.

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss and has material basis in mutation in the DFNA5 gene on chromosome 7p15.

Description from OMIM: 600994

Related Diseases for Deafness, Autosomal Dominant 5

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 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 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 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 Deafness, Autosomal Recessive 110
Deafness, Autosomal Dominant 74 Deafness, Autosomal Recessive 111
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 106 Autosomal Recessive Nonsyndromic Deafness 107
Autosomal Recessive Nonsyndromic Deafness 108 Autosomal Dominant Nonsyndromic Deafness 71
Autosomal Dominant Nonsyndromic Deafness 72 Autosomal Dominant Nonsyndromic Deafness 73
Autosomal Dominant Nonsyndromic Deafness 34 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

Diseases related to Deafness, Autosomal Dominant 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.6
2 breast cancer 10.2
3 hepatocellular carcinoma 10.2
4 sensorineural hearing loss 10.2
5 colorectal cancer 10.0
6 hearing loss, noise-induced 10.0
7 gastric cancer 10.0
8 melanoma 10.0
9 oral cancer 10.0
10 age-related hearing loss 10.0

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 5:



Diseases related to Deafness, Autosomal Dominant 5

Symptoms & Phenotypes for Deafness, Autosomal Dominant 5

Human phenotypes related to Deafness, Autosomal Dominant 5:

33
# Description HPO Frequency HPO Source Accession
1 progressive sensorineural hearing impairment 33 HP:0000408

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
hearing loss, sensorineural, progressive (high frequencies first affected, all frequencies later affected)

Clinical features from OMIM:

600994

Drugs & Therapeutics for Deafness, Autosomal Dominant 5

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 5

Genetic Tests for Deafness, Autosomal Dominant 5

Genetic tests related to Deafness, Autosomal Dominant 5:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 5 30 GSDME

Anatomical Context for Deafness, Autosomal Dominant 5

MalaCards organs/tissues related to Deafness, Autosomal Dominant 5:

42
Brain, Breast, Testes, Lymph Node

Publications for Deafness, Autosomal Dominant 5

Articles related to Deafness, Autosomal Dominant 5:

(show all 41)
# Title Authors Year
1
Association of DFNA5, SYK, and NELL1 variants along with HPV infection in oral cancer among the prolonged tobacco-chewers. ( 30091681 )
2018
2
Exonic mutations and exon skipping: Lessons learned from DFNA5. ( 29266521 )
2018
3
Large-scale analysis of DFNA5 methylation reveals its potential as biomarker for breast cancer. ( 29682089 )
2018
4
Further evidence for "gain-of-function" mechanism of DFNA5 related hearing loss. ( 29849037 )
2018
5
Cleavage of DFNA5 by caspase-3 during apoptosis mediates progression to secondary necrotic/pyroptotic cell death. ( 28045099 )
2017
6
DFNA5 promoter methylation a marker for breast tumorigenesis. ( 28404884 )
2017
7
Histopathology of the Human Inner Ear in a Patient With Sensorineural Hearing Loss Caused by a Variant in DFNA5. ( 26496673 )
2015
8
The deafness gene DFNA5 induces programmed cell death through mitochondria and MAPK-related pathways. ( 26236191 )
2015
9
IVS8+1 DelG, a Novel Splice Site Mutation Causing DFNA5 Deafness in a Chinese Family. ( 26365971 )
2015
10
Associations of genetic variations in EYA4, GRHL2 and DFNA5 with noise-induced hearing loss in Chinese population: a case- control study. ( 26400775 )
2015
11
Role of DFNA5 in hearing loss and cancer - a comment on Rakusic et al. ( 26457054 )
2015
12
A DFNA5 mutation identified in Japanese families with autosomal dominant hereditary hearing loss. ( 24506266 )
2014
13
A novel splice site mutation in DFNA5 causes late-onset progressive non-syndromic hearing loss in a Chinese family. ( 24933359 )
2014
14
The expression and regulation of DFNA5 in human hepatocellular carcinoma DFNA5 in hepatocellular carcinoma. ( 24154762 )
2013
15
Methylation of the DFNA5 gene is frequently detected in colorectal cancer. ( 22493364 )
2012
16
DFNA5, a gene involved in hearing loss and cancer: a review. ( 22530481 )
2012
17
The splicing mutant of the human tumor suppressor protein DFNA5 induces programmed cell death when expressed in the yeast Saccharomyces cerevisiae. ( 22848872 )
2012
18
The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein. ( 21522185 )
2011
19
Evidence for a founder mutation causing DFNA5 hearing loss in East Asians. ( 19911014 )
2010
20
Characterization of the murine Dfna5 promoter and regulatory regions. ( 19095048 )
2009
21
Aberrant promoter methylation and tumor suppressive activity of the DFNA5 gene in colorectal carcinoma. ( 18223688 )
2008
22
Methylation of the DFNA5 increases risk of lymph node metastasis in human breast cancer. ( 18346456 )
2008
23
Identification of DFNA5 as a target of epigenetic inactivation in gastric cancer. ( 17083569 )
2007
24
A novel DFNA5 mutation does not cause hearing loss in an Iranian family. ( 17427029 )
2007
25
In CEM cells the autosomal deafness gene dfna5 is regulated by glucocorticoids and forskolin. ( 17616391 )
2007
26
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. ( 17868390 )
2007
27
The potential role of DFNA5, a hearing impairment gene, in p53-mediated cellular response to DNA damage. ( 16897187 )
2006
28
Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells. ( 16023581 )
2005
29
A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation. ( 14676472 )
2004
30
The deafness gene dfna5 is crucial for ugdh expression and HA production in the developing ear in zebrafish. ( 14736743 )
2004
31
DFNA5: hearing impairment exon instead of hearing impairment gene? ( 15173223 )
2004
32
A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment. ( 12853124 )
2003
33
A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family. ( 14559215 )
2003
34
Further delineation of the DFNA5 phenotype: results of speech recognition tests. ( 12126021 )
2002
35
Clinical features of DFNA5. ( 12408063 )
2002
36
Is DFNA5 a susceptibility gene for age-related hearing impairment? ( 12461698 )
2002
37
DFNA5 (ICERE-1) contributes to acquired etoposide resistance in melanoma cells. ( 11297734 )
2001
38
Quantification of TECTA and DFNA5 expression in the developing mouse cochlea. ( 11711860 )
2001
39
Nonsyndromic hearing impairment is associated with a mutation in DFNA5. ( 9771715 )
1998
40
Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion of a candidate gene that is expressed in the cochlea. ( 9450185 )
1997
41
Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15. ( 8589696 )
1995

Variations for Deafness, Autosomal Dominant 5

ClinVar genetic disease variations for Deafness, Autosomal Dominant 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GSDME NM_004403.3(GSDME): c.991-6C> G single nucleotide variant Pathogenic GRCh37 Chromosome 7, 24746001: 24746001
2 GSDME GSDME, INS/DEL, EX8DEL deletion Pathogenic
3 GSDME GSMDE, 3-BP DEL, IVS7, -17CTT deletion Pathogenic
4 GSDME NM_004403.3(GSDME): c.991-6C> G single nucleotide variant Pathogenic GRCh38 Chromosome 7, 24706382: 24706382
5 GSDME NM_004403.3(GSDME): c.1183+4A> G single nucleotide variant Pathogenic GRCh38 Chromosome 7, 24706180: 24706180
6 GSDME NM_004403.3(GSDME): c.1183+4A> G single nucleotide variant Pathogenic GRCh37 Chromosome 7, 24745799: 24745799
7 GSDME NM_004403.3(GSDME): c.1277_1279delATG (p.Asp426del) deletion Conflicting interpretations of pathogenicity rs374353052 GRCh37 Chromosome 7, 24738857: 24738859
8 GSDME NM_004403.3(GSDME): c.1277_1279delATG (p.Asp426del) deletion Conflicting interpretations of pathogenicity rs374353052 GRCh38 Chromosome 7, 24699238: 24699240
9 GSDME NM_001127453.1(GSDME): c.1193_1196dupATAG (p.Ser399Argfs) duplication Uncertain significance rs757421220 GRCh37 Chromosome 7, 24742440: 24742443
10 GSDME NM_001127453.1(GSDME): c.1193_1196dupATAG (p.Ser399Argfs) duplication Uncertain significance rs757421220 GRCh38 Chromosome 7, 24702821: 24702824

Expression for Deafness, Autosomal Dominant 5

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 5.

Pathways for Deafness, Autosomal Dominant 5

GO Terms for Deafness, Autosomal Dominant 5

Sources for Deafness, Autosomal Dominant 5

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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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75 UMLS via Orphanet
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