MCID: DFN159
MIFTS: 28

Deafness, Autosomal Dominant 5

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

Aliases & Classifications for Deafness, Autosomal Dominant 5

MalaCards integrated aliases for Deafness, Autosomal Dominant 5:

Name: Deafness, Autosomal Dominant 5 53 28 13 69
Dfna5 53 12 71
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 5 71
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 5 71
Autosomal Dominant Nonsyndromic Deafness 5 12
Deafness, Autosomal Dominant, 5 71
Autosomal Dominant Deafness 5 12

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
deafness, autosomal dominant 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 600994
Disease Ontology 12 DOID:0110575
ICD10 32 H90.3
MedGen 39 C1832932
MeSH 41 D006319
SNOMED-CT via HPO 65 263681008
UMLS 69 C1832932

Summaries for Deafness, Autosomal Dominant 5

UniProtKB/Swiss-Prot : 71 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 branchiootic syndrome 1, and has symptoms including progressive sensorineural hearing impairment An important gene associated with Deafness, Autosomal Dominant 5 is GSDME (Gasdermin E). Affiliated tissues include brain.

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 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 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 10.3
2 branchiootic syndrome 1 10.1
3 hepatocellular carcinoma 10.0
4 sensorineural hearing loss 10.0
5 breast cancer 9.8
6 colorectal cancer 9.8
7 aging 9.8
8 hearing loss, noise-induced 9.8
9 melanoma 9.8

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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, sensorineural, progressive (high frequencies first affected, all frequencies later affected)


Clinical features from OMIM:

600994

Human phenotypes related to Deafness, Autosomal Dominant 5:

31
# Description HPO Frequency HPO Source Accession
1 progressive sensorineural hearing impairment 31 HP:0000408

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 28 GSDME

Anatomical Context for Deafness, Autosomal Dominant 5

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

38
Brain

Publications for Deafness, Autosomal Dominant 5

Articles related to Deafness, Autosomal Dominant 5:

(show all 30)
# Title Authors Year
1
DFNA5 promoter methylation a marker for breast tumorigenesis. ( 28404884 )
2017
2
Cleavage of DFNA5 by caspase-3 during apoptosis mediates progression to secondary necrotic/pyroptotic cell death. ( 28045099 )
2017
3
The deafness gene DFNA5 induces programmed cell death through mitochondria and MAPK-related pathways. ( 26236191 )
2015
4
Associations of genetic variations in EYA4, GRHL2 and DFNA5 with noise-induced hearing loss in Chinese population: a case- control study. ( 26400775 )
2015
5
Histopathology of the Human Inner Ear in a Patient With Sensorineural Hearing Loss Caused by a Variant in DFNA5. ( 26496673 )
2015
6
IVS8+1 DelG, a Novel Splice Site Mutation Causing DFNA5 Deafness in a Chinese Family. ( 26365971 )
2015
7
A novel splice site mutation in DFNA5 causes late-onset progressive non-syndromic hearing loss in a Chinese family. ( 24933359 )
2014
8
A DFNA5 mutation identified in Japanese families with autosomal dominant hereditary hearing loss. ( 24506266 )
2014
9
The expression and regulation of DFNA5 in human hepatocellular carcinoma DFNA5 in hepatocellular carcinoma. ( 24154762 )
2013
10
Methylation of the DFNA5 gene is frequently detected in colorectal cancer. ( 22493364 )
2012
11
[Characteristics of audiology and clinical genetics of a Chinese family with the DFNA5 genetic hearing loss]. ( 21805831 )
2011
12
The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein. ( 21522185 )
2011
13
Evidence for a founder mutation causing DFNA5 hearing loss in East Asians. ( 19911014 )
2010
14
Methylation of the DFNA5 increases risk of lymph node metastasis in human breast cancer. ( 18346456 )
2008
15
Aberrant promoter methylation and tumor suppressive activity of the DFNA5 gene in colorectal carcinoma. ( 18223688 )
2008
16
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
17
A novel DFNA5 mutation does not cause hearing loss in an Iranian family. ( 17427029 )
2007
18
In CEM cells the autosomal deafness gene dfna5 is regulated by glucocorticoids and forskolin. ( 17616391 )
2007
19
The potential role of DFNA5, a hearing impairment gene, in p53- mediated cellular response to DNA damage. ( 16897187 )
2006
20
Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells. ( 16023581 )
2005
21
DFNA5: hearing impairment exon instead of hearing impairment gene? ( 15173223 )
2004
22
A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation. ( 14676472 )
2004
23
A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment. ( 12853124 )
2003
24
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
25
Is DFNA5 a susceptibility gene for age-related hearing impairment? ( 12461698 )
2002
26
Quantification of TECTA and DFNA5 expression in the developing mouse cochlea. ( 11711860 )
2001
27
DFNA5 (ICERE-1) contributes to acquired etoposide resistance in melanoma cells. ( 11297734 )
2001
28
Nonsyndromic hearing impairment is associated with a mutation in DFNA5. ( 9771715 )
1998
29
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
30
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 GSDME, INS/DEL, EX8DEL deletion Pathogenic
2 GSDME GSMDE, 3-BP DEL, IVS7, -17CTT deletion Pathogenic
3 GSDME GSMDE, IVS7AS, C-G, -6 single nucleotide variant Pathogenic
4 GSDME GSMDE, IVS8DS, A-G, +4 single nucleotide variant Pathogenic

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

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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