DFNA30
MCID: DFN153
MIFTS: 23

Deafness, Autosomal Dominant 30 (DFNA30)

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

Aliases & Classifications for Deafness, Autosomal Dominant 30

MalaCards integrated aliases for Deafness, Autosomal Dominant 30:

Name: Deafness, Autosomal Dominant 30 57 13 70
Autosomal Dominant Nonsyndromic Deafness 30 12 15
Dfna30 57 12
Autosomal Dominant Deafness 30 12

Characteristics:

OMIM®:

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

Miscellaneous:
based on one 4-generation italian family (last curated august 2015)
age of onset from 10 to 40 years


HPO:

31
deafness, autosomal dominant 30:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110560
OMIM® 57 606451
OMIM Phenotypic Series 57 PS124900
ICD10 32 H90.3
MedGen 41 C1847972
SNOMED-CT via HPO 68 263681008 60700002
UMLS 70 C1847972

Summaries for Deafness, Autosomal Dominant 30

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26.

MalaCards based summary : Deafness, Autosomal Dominant 30, also known as autosomal dominant nonsyndromic deafness 30, is related to deafness, autosomal recessive 16 and nonsyndromic hearing loss. An important gene associated with Deafness, Autosomal Dominant 30 is DFNA30 (Deafness, Autosomal Dominant 30). Related phenotype is sensorineural hearing impairment.

More information from OMIM: 606451 PS124900

Related Diseases for Deafness, Autosomal Dominant 30

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

(show all 29)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 16 29.5 TMIE TMC1
2 nonsyndromic hearing loss 29.1 TMIE TMC1
3 deafness, autosomal dominant 47 10.1 NGRN EPHB1
4 deafness, autosomal dominant 16 10.1 NGRN EPHB1
5 deafness, y-linked 1 10.0 TMC2 TMC1
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
7 otosclerosis 9.9
8 deafness, autosomal recessive 48 9.9 TMC2 TMC1
9 deafness, autosomal dominant 27 9.9 TMIE NGRN
10 epidermodysplasia verruciformis 1 9.8 TMC2 TMC1
11 deafness, autosomal recessive 67 9.8 TMIE TMC2
12 deafness, autosomal recessive 9 9.7 TMIE TMC1
13 usher syndrome, type id 9.7 TMIE TMC1
14 deafness, autosomal recessive 12 9.7 TMIE TMC1
15 deafness, autosomal recessive 5 9.7 TMIE NGRN EPHB1
16 deafness, autosomal recessive 27 9.6 TMIE TMC1 NGRN
17 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.6 TMIE TMC1
18 usher syndrome type 2 9.6 TMIE TMC1
19 y-linked deafness 9.6 TMIE TMC2 TMC1
20 y-linked monogenic disease 9.5 TMIE TMC2 TMC1
21 usher syndrome, type i 9.5 TMIE TMC2 TMC1
22 usher syndrome, type ic 9.5 TMIE TMC2 TMC1
23 usher syndrome 9.5 TMIE TMC2 TMC1
24 deafness, autosomal recessive 7 9.5 TMIE TMC2 TMC1
25 deafness, autosomal dominant 36 9.5 TMIE TMC2 TMC1
26 deafness, autosomal recessive 63 9.5 TMIE TMC2 TMC1
27 autosomal recessive nonsyndromic deafness 9.5 TMIE TMC2 TMC1
28 auditory system disease 9.5 TMIE TMC2 TMC1
29 autosomal dominant nonsyndromic deafness 9.4 TMIE TMC2 TMC1 DFNA30

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 30:



Diseases related to Deafness, Autosomal Dominant 30

Symptoms & Phenotypes for Deafness, Autosomal Dominant 30

Human phenotypes related to Deafness, Autosomal Dominant 30:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, sensorineural bilateral symmetric, progressive (high frequency loss followed by middle frequency loss)

Clinical features from OMIM®:

606451 (Updated 05-Apr-2021)

Drugs & Therapeutics for Deafness, Autosomal Dominant 30

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 30

Genetic Tests for Deafness, Autosomal Dominant 30

Anatomical Context for Deafness, Autosomal Dominant 30

Publications for Deafness, Autosomal Dominant 30

Articles related to Deafness, Autosomal Dominant 30:

# Title Authors PMID Year
1
Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26. 57 61
11571554 2001

Variations for Deafness, Autosomal Dominant 30

Expression for Deafness, Autosomal Dominant 30

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 30.

Pathways for Deafness, Autosomal Dominant 30

GO Terms for Deafness, Autosomal Dominant 30

Cellular components related to Deafness, Autosomal Dominant 30 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stereocilium tip GO:0032426 8.62 TMC2 TMC1

Biological processes related to Deafness, Autosomal Dominant 30 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion transmembrane transport GO:0070588 9.26 TMC2 TMC1
2 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.16 TMC2 TMC1
3 regulation of calcium ion transmembrane transport GO:1903169 8.96 TMC2 TMC1
4 vestibular reflex GO:0060005 8.62 TMC2 TMC1

Molecular functions related to Deafness, Autosomal Dominant 30 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated calcium channel activity GO:0005245 8.96 TMC2 TMC1
2 mechanosensitive ion channel activity GO:0008381 8.62 TMC2 TMC1

Sources for Deafness, Autosomal Dominant 30

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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