DFNA24
MCID: DFN151
MIFTS: 23

Deafness, Autosomal Dominant 24 (DFNA24)

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

Aliases & Classifications for Deafness, Autosomal Dominant 24

MalaCards integrated aliases for Deafness, Autosomal Dominant 24:

Name: Deafness, Autosomal Dominant 24 57 13 70
Autosomal Dominant Nonsyndromic Deafness 24 12 15
Dfna24 57 12
Autosomal Dominant Deafness 24 12

Characteristics:

OMIM®:

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

Miscellaneous:
hearing loss is nonprogressive
based on 1 large swiss german kindred (last curated august 2015)


HPO:

31
deafness, autosomal dominant 24:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110554
OMIM® 57 606282
OMIM Phenotypic Series 57 PS124900
ICD10 32 H90.3
MedGen 41 C1853451
UMLS 70 C1853451

Summaries for Deafness, Autosomal Dominant 24

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter.

MalaCards based summary : Deafness, Autosomal Dominant 24, also known as autosomal dominant nonsyndromic deafness 24, is related to nonsyndromic hearing loss and sensorineural hearing loss. An important gene associated with Deafness, Autosomal Dominant 24 is DFNA24 (Deafness, Autosomal Dominant 24). Related phenotypes are hearing impairment and hearing/vestibular/ear

More information from OMIM: 606282 PS124900

Related Diseases for Deafness, Autosomal Dominant 24

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

(show all 33)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic hearing loss 29.1 POU4F3 GJB3 COCH
2 sensorineural hearing loss 28.6 SLC17A8 POU4F3 GJB3 COCH
3 deafness, autosomal dominant 51 10.0 GJB3 CCDC50
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
5 deafness, autosomal dominant nonsyndromic sensorineural 3 9.9
6 age-related hearing loss 9.9
7 deafness, autosomal recessive 91 9.9 GJB3 COCH
8 deafness, autosomal dominant 3a 9.9 GJB3 COCH
9 vestibular disease 9.8 GJB3 COCH
10 deafness, autosomal dominant 18 9.8 POU4F3 CCDC50
11 deafness, autosomal dominant 44 9.8 POU4F3 CCDC50
12 deafness, autosomal dominant 15 9.8 POU4F3 CCDC50
13 deafness, autosomal recessive 1a 9.8 GJB3 COCH
14 deafness, autosomal dominant 50 9.8 POU4F3 CCDC50
15 deafness, autosomal dominant 10 9.7 POU4F3 CCDC50
16 x-linked nonsyndromic deafness 9.7 POU4F3 GJB3
17 cocaine abuse 9.7 SLC17A8 COCH
18 hereditary hearing loss and deafness 9.7 GJB3 COCH CCDC50
19 deafness, x-linked 2 9.6 POU4F3 GJB3
20 usher syndrome, type i 9.6 SLC17A8 COCH CCDC50
21 deafness, autosomal dominant 25 9.6 SLC17A8 POU4F3 CCDC50
22 inner ear disease 9.6 GJB3 COCH
23 deafness, autosomal dominant 12 9.6 POU4F3 GJB3 CCDC50
24 deafness, autosomal dominant 43 9.5 POU4F3 COCH CCDC50
25 auditory system disease 9.5 POU4F3 GJB3 COCH
26 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.5 POU4F3 GJB3 COCH
27 deafness, autosomal dominant 2b 9.3 POU4F3 GJB3 COCH CCDC50
28 deafness, autosomal dominant 9 9.2 SLC17A8 POU4F3 GJB3 COCH
29 usher syndrome 9.2 SLC17A8 POU4F3 GJB3 COCH
30 deafness, autosomal dominant 16 9.0 SLC17A8 POU4F3 GJB3 COCH CCDC50
31 deafness, autosomal dominant 2a 9.0 SLC17A8 POU4F3 GJB3 COCH CCDC50
32 autosomal dominant non-syndromic sensorineural deafness type dfna 9.0 SLC17A8 POU4F3 GJB3 COCH CCDC50
33 autosomal dominant nonsyndromic deafness 8.8 SLC17A8 POU4F3 GJB3 DFNA24 COCH CCDC50

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 24:



Diseases related to Deafness, Autosomal Dominant 24

Symptoms & Phenotypes for Deafness, Autosomal Dominant 24

Human phenotypes related to Deafness, Autosomal Dominant 24:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, mild to profound (mainly between frequencies 0.5khz and 4khz)

Clinical features from OMIM®:

606282 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 24:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.92 COCH GJB3 POU4F3 SLC17A8

Drugs & Therapeutics for Deafness, Autosomal Dominant 24

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 24

Genetic Tests for Deafness, Autosomal Dominant 24

Anatomical Context for Deafness, Autosomal Dominant 24

Publications for Deafness, Autosomal Dominant 24

Articles related to Deafness, Autosomal Dominant 24:

# Title Authors PMID Year
1
A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred. 57 61
10739769 2000
2
Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment. 61
16717440 2006
3
Deafness due to degeneration of cochlear neurons in caspase-3-deficient mice. 61
11374883 2001

Variations for Deafness, Autosomal Dominant 24

Expression for Deafness, Autosomal Dominant 24

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 24.

Pathways for Deafness, Autosomal Dominant 24

GO Terms for Deafness, Autosomal Dominant 24

Biological processes related to Deafness, Autosomal Dominant 24 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.92 SLC17A8 POU4F3 COCH CCDC50

Sources for Deafness, Autosomal Dominant 24

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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