DFNA43
MCID: DFN156
MIFTS: 23

Deafness, Autosomal Dominant 43 (DFNA43)

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

Aliases & Classifications for Deafness, Autosomal Dominant 43

MalaCards integrated aliases for Deafness, Autosomal Dominant 43:

Name: Deafness, Autosomal Dominant 43 57 13 70
Autosomal Dominant Nonsyndromic Deafness 43 12 15
Dfna43 57 12
Autosomal Dominant Deafness 43 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset during the second/third decade of life with high frequency loss slowly progressing and extending to all frequencies by the fifth/sixth decade of life
one 3-generation italian family has been described (last curated august 2015)


HPO:

31
deafness, autosomal dominant 43:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110568
OMIM® 57 608394
OMIM Phenotypic Series 57 PS124900
ICD10 32 H90.3
MedGen 41 C1842108
UMLS 70 C1842108

Summaries for Deafness, Autosomal Dominant 43

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p12.

MalaCards based summary : Deafness, Autosomal Dominant 43, also known as autosomal dominant nonsyndromic deafness 43, is related to deafness, autosomal dominant 40 and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Deafness, Autosomal Dominant 43 is DFNA43 (Deafness, Autosomal Dominant 43). Related phenotypes are sensorineural hearing impairment and tinnitus

More information from OMIM: 608394 PS124900

Related Diseases for Deafness, Autosomal Dominant 43

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 43 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 40 10.9
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
3 deafness, autosomal dominant 44 9.9 POU4F3 CCDC50
4 deafness, autosomal dominant 25 9.9 POU4F3 CCDC50
5 deafness, autosomal dominant 50 9.9 POU4F3 CCDC50
6 deafness, autosomal dominant 12 9.9 POU4F3 CCDC50
7 hereditary hearing loss and deafness 9.9 COCH CCDC50
8 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 POU4F3 COCH
9 deafness, autosomal dominant 24 9.7 POU4F3 COCH CCDC50
10 deafness, autosomal dominant 2b 9.6 POU4F3 COCH CCDC50
11 deafness, autosomal dominant 2a 9.6 POU4F3 COCH CCDC50
12 non-syndromic genetic deafness 9.6 MYO6 COCH
13 usher syndrome, type i 9.6 COCH CCDC50
14 deafness, autosomal dominant 18 9.5 POU4F3 MYO6 CCDC50
15 deafness, autosomal dominant 15 9.5 POU4F3 MYO6 CCDC50
16 rare genetic deafness 9.5 MYO6 COCH
17 deafness, autosomal dominant 10 9.5 POU4F3 MYO6 CCDC50
18 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.5 POU4F3 MYO6 ELMOD3
19 deafness, autosomal dominant 9 9.5 POU4F3 MYO6 COCH
20 auditory system disease 9.5 POU4F3 MYO6 COCH
21 nonsyndromic hearing loss 9.5 POU4F3 MYO6 COCH
22 usher syndrome 9.4 POU4F3 MYO6 COCH
23 sensorineural hearing loss 9.3 POU4F3 MYO6 COCH
24 deafness, autosomal dominant 16 9.2 POU4F3 MYO6 COCH CCDC50
25 autosomal dominant non-syndromic sensorineural deafness type dfna 9.2 POU4F3 MYO6 COCH CCDC50
26 autosomal dominant nonsyndromic deafness 9.0 POU4F3 MYO6 DFNA43 COCH CCDC50

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 43:



Diseases related to Deafness, Autosomal Dominant 43

Symptoms & Phenotypes for Deafness, Autosomal Dominant 43

Human phenotypes related to Deafness, Autosomal Dominant 43:

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, bilateral symmetrical, progressive (severe later in life)
tinnitus (variable manifestation)

Clinical features from OMIM®:

608394 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 43:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.92 COCH ELMOD3 MYO6 POU4F3

Drugs & Therapeutics for Deafness, Autosomal Dominant 43

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 43

Genetic Tests for Deafness, Autosomal Dominant 43

Anatomical Context for Deafness, Autosomal Dominant 43

Publications for Deafness, Autosomal Dominant 43

Articles related to Deafness, Autosomal Dominant 43:

# Title Authors PMID Year
1
Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12. 57 61
12676899 2003

Variations for Deafness, Autosomal Dominant 43

Expression for Deafness, Autosomal Dominant 43

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 43.

Pathways for Deafness, Autosomal Dominant 43

GO Terms for Deafness, Autosomal Dominant 43

Biological processes related to Deafness, Autosomal Dominant 43 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inner ear morphogenesis GO:0042472 9.16 POU4F3 MYO6
2 inner ear auditory receptor cell differentiation GO:0042491 8.96 POU4F3 MYO6
3 sensory perception of sound GO:0007605 8.92 POU4F3 MYO6 COCH CCDC50

Sources for Deafness, Autosomal Dominant 43

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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