DFNA64
MCID: DFN255
MIFTS: 27

Deafness, Autosomal Dominant 64 (DFNA64)

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

Aliases & Classifications for Deafness, Autosomal Dominant 64

MalaCards integrated aliases for Deafness, Autosomal Dominant 64:

Name: Deafness, Autosomal Dominant 64 57 29 13 6 70
Dfna64 57 12 72
Autosomal Dominant Nonsyndromic Deafness 64 12 15
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 64 72
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 64 72
Deafness, Autosomal Dominant, Type 64 39
Deafness, Autosomal Dominant, 64 72
Autosomal Dominant Deafness 64 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
onset between 12 and 30 years (average 22)
one chinese family has been reported (as of august 2011)


HPO:

31
deafness, autosomal dominant 64:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0110585
OMIM® 57 614152
OMIM Phenotypic Series 57 PS124900
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C3279948
UMLS 70 C3279948

Summaries for Deafness, Autosomal Dominant 64

UniProtKB/Swiss-Prot : 72 Deafness, autosomal dominant, 64: 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 64, also known as dfna64, is related to nonsyndromic hearing loss and autosomal dominant non-syndromic sensorineural deafness type dfna. An important gene associated with Deafness, Autosomal Dominant 64 is DIABLO (Diablo IAP-Binding Mitochondrial Protein). Related phenotypes are sensorineural hearing impairment and tinnitus

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that has material basis in mutation in the DIABLO gene on chromosome 12q24.

More information from OMIM: 614152 PS124900

Related Diseases for Deafness, Autosomal Dominant 64

Diseases in the Rare Deafness family:

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
Deafness, Autosomal Recessive 94 Deafness, Autosomal Recessive 114
Deafness, Autosomal Recessive 115 Deafness, Autosomal Recessive 99
Deafness, Autosomal Dominant 37 Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76 Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
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 Dominant Nonsyndromic Deafness 78 Autosomal Dominant Nonsyndromic Deafness 79
Autosomal Recessive Nonsyndromic Deafness 116 Autosomal Dominant Nonsyndromic Deafness 74
Autosomal Dominant Nonsyndromic Deafness 75 Autosomal Dominant Nonsyndromic Deafness 76
Autosomal Dominant Nonsyndromic Deafness 77 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Deafness, Autosomal Dominant 64 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic hearing loss 29.3 MYH14 KCNQ4 GJB2 CEACAM16
2 autosomal dominant non-syndromic sensorineural deafness type dfna 28.7 SLC17A8 MYH14 KCNQ4 GJB2 DIABLO CEACAM16
3 deafness, autosomal dominant 3b 10.1 GJB2 CEACAM16
4 deafness, autosomal recessive 79 10.1 GJB2 CEACAM16
5 deafness, autosomal recessive 1b 10.1 GJB2 CEACAM16
6 deafness, autosomal recessive 21 10.1 GJB2 CEACAM16
7 usher syndrome, type ic 10.1 SLC17A8 GJB2
8 deafness, autosomal dominant 1, with or without thrombocytopenia 10.0 MYH14 GJB2
9 deafness, autosomal dominant 16 10.0 SLC17A8 KCNQ4
10 acute hemorrhagic leukoencephalitis 10.0 SLC17A8 KCNQ4
11 deafness, autosomal recessive 9 10.0 SLC17A8 GJB2
12 deafness, autosomal dominant 6 10.0 KCNQ4 GJB2
13 deafness, autosomal dominant 17 10.0 MYH14 KCNQ4
14 deafness, autosomal dominant 2b 10.0 KCNQ4 GJB2
15 deafness, autosomal dominant 41 10.0 KCNQ4 GJB2
16 deafness, autosomal recessive 12 10.0 GJB2 CEACAM16
17 deafness, autosomal dominant 12 9.9 KCNQ4 CEACAM16
18 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
19 deafness, autosomal dominant 10 9.9 MYH14 KCNQ4
20 deafness, autosomal dominant 36 9.9 KCNQ4 GJB2
21 vestibular disease 9.9 KCNQ4 GJB2
22 peripheral vertigo 9.9 KCNQ4 GJB2
23 meniere disease 9.9 KCNQ4 GJB2
24 deafness, autosomal dominant 25 9.9 SLC17A8 KCNQ4 CEACAM16
25 deafness, autosomal recessive 1a 9.8 KCNQ4 GJB2
26 nonsyndromic deafness 9.8 KCNQ4 GJB2 DIABLO
27 non-syndromic genetic deafness 9.8 KCNQ4 GJB2 CEACAM16
28 auditory system disease 9.8 KCNQ4 GJB2 CEACAM16
29 deafness, autosomal dominant 2a 9.8 SLC17A8 KCNQ4 GJB2
30 auditory neuropathy, autosomal dominant, 1 9.8 SLC17A8 KCNQ4 GJB2
31 deafness, autosomal dominant 9 9.8 SLC17A8 KCNQ4 GJB2
32 inner ear disease 9.8 KCNQ4 GJB2
33 usher syndrome, type i 9.8 SLC17A8 KCNQ4 GJB2
34 rare genetic deafness 9.7 KCNQ4 GJB2 CEACAM16
35 usher syndrome 9.7 SLC17A8 KCNQ4 GJB2
36 waardenburg's syndrome 9.7 KCNQ4 GJB2
37 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.6 KCNQ4 GJB2
38 autosomal dominant nonsyndromic deafness 9.4 SLC17A8 MYH14 KCNQ4 GJB2 CEACAM16
39 sensorineural hearing loss 9.4 SLC17A8 MYH14 KCNQ4 GJB2 CEACAM16

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 64:



Diseases related to Deafness, Autosomal Dominant 64

Symptoms & Phenotypes for Deafness, Autosomal Dominant 64

Human phenotypes related to Deafness, Autosomal Dominant 64:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 tinnitus 31 HP:0000360

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, sensorineural
high-frequency tinnitus at onset
flat audiogram

Clinical features from OMIM®:

614152 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 64:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.02 CEACAM16 GJB2 KCNQ4 KPTN SLC17A8

Drugs & Therapeutics for Deafness, Autosomal Dominant 64

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 64

Genetic Tests for Deafness, Autosomal Dominant 64

Genetic tests related to Deafness, Autosomal Dominant 64:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 64 29 DIABLO

Anatomical Context for Deafness, Autosomal Dominant 64

Publications for Deafness, Autosomal Dominant 64

Articles related to Deafness, Autosomal Dominant 64:

# Title Authors PMID Year
1
Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64. 61 6 57
21722859 2011

Variations for Deafness, Autosomal Dominant 64

ClinVar genetic disease variations for Deafness, Autosomal Dominant 64:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DIABLO NM_019887.6(DIABLO):c.377C>T (p.Ser126Leu) SNV Pathogenic 30449 rs387906893 GRCh37: 12:122701355-122701355
GRCh38: 12:122216808-122216808
2 DIABLO NM_001371333.1(DIABLO):c.35dup (p.Thr13fs) Duplication Pathogenic 1028636 GRCh37: 12:122710526-122710527
GRCh38: 12:122225979-122225980

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 64:

72
# Symbol AA change Variation ID SNP ID
1 DIABLO p.Ser126Leu VAR_066487 rs387906893

Expression for Deafness, Autosomal Dominant 64

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 64.

Pathways for Deafness, Autosomal Dominant 64

GO Terms for Deafness, Autosomal Dominant 64

Biological processes related to Deafness, Autosomal Dominant 64 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.02 SLC17A8 MYH14 KCNQ4 GJB2 CEACAM16

Molecular functions related to Deafness, Autosomal Dominant 64 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 8.8 YWHAH MYH14 KPTN

Sources for Deafness, Autosomal Dominant 64

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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