MCID: DFN151
MIFTS: 32

Deafness, Autosomal Dominant 24

Categories: Blood diseases, 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 73
Autosomal Dominant Nonsyndromic Deafness 24 12 15
Dfna24 57 12
Autosomal Dominant Deafness 24 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
deafness, autosomal dominant 24:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 606282
Disease Ontology 12 DOID:0110554
ICD10 33 H90.3
MedGen 42 C1853451
UMLS 73 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 autosomal dominant nonsyndromic deafness and nonsyndromic deafness. An important gene associated with Deafness, Autosomal Dominant 24 is DFNA24 (Deafness, Autosomal Dominant 24), and among its related pathways/superpathways is Gap junction trafficking. Affiliated tissues include skin, and related phenotypes are hearing impairment and hearing/vestibular/ear

Description from OMIM: 606282

Related Diseases for Deafness, Autosomal Dominant 24

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 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
Nonsyndromic Deafness 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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

Diseases related to Deafness, Autosomal Dominant 24 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant nonsyndromic deafness 31.4 DFNA24 GJB2
2 nonsyndromic deafness 29.9 GJB2 GJB6
3 perrault syndrome 1 11.1
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
5 kid syndrome 9.9 GJB2 GJB6
6 pseudoainhum 9.9 GJB2 GJB6
7 knuckle pads 9.9 GJB2 GJB6
8 knuckle pads, leukonychia, and sensorineural deafness 9.9 GJB2 GJB6
9 deafness, x-linked 2 9.9 GJB2 GJB6
10 hodgkin's lymphoma, nodular sclerosis 9.9 GJB2 GJB6
11 dfnb1 9.9 GJB2 GJB6
12 vohwinkel syndrome 9.9 GJB2 GJB6
13 deafness, autosomal recessive 1a 9.9 GJB2 GJB6
14 deafness, autosomal recessive 23 9.9 GJB2 GJB6
15 congenital cytomegalovirus 9.9 GJB2 GJB6
16 vestibular disease 9.9 GJB2 GJB6
17 erythrokeratodermia variabilis et progressiva 1 9.9 GJB2 GJB6
18 deafness, autosomal dominant 2a 9.9 GJB2 GJB6
19 deafness, autosomal recessive 16 9.9 GJB2 GJB6
20 clouston syndrome 9.9 GJB2 GJB6
21 inner ear disease 9.9 GJB2 GJB6
22 keratitis, hereditary 9.8 GJB2 GJB6
23 auditory system disease 9.8 GJB2 GJB6
24 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.8 GJB2 GJB6
25 corneal disease 9.8 GJB2 GJB6
26 nervous system disease 9.8 CASP3 GJB2
27 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.8 GJB2 GJB6
28 ectodermal dysplasia 9.8 GJB2 GJB6
29 sensorineural hearing loss 9.7 GJB2 GJB6
30 skin disease 9.6 GJB2 GJB6

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

Symptoms via clinical synopsis from OMIM:

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


Clinical features from OMIM:

606282

Human phenotypes related to Deafness, Autosomal Dominant 24:

32
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 24:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.13 CASP3 GJB2 GJB6
2 no phenotypic analysis MP:0003012 8.8 CASP3 GJB2 GJB6

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

MalaCards organs/tissues related to Deafness, Autosomal Dominant 24:

41
Skin

Publications for Deafness, Autosomal Dominant 24

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.61 GJB2 GJB6

GO Terms for Deafness, Autosomal Dominant 24

Cellular components related to Deafness, Autosomal Dominant 24 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction GO:0005921 8.96 GJB2 GJB6
2 connexin complex GO:0005922 8.62 GJB2 GJB6

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

# Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.4 GJB2 GJB6
2 response to estradiol GO:0032355 9.37 CASP3 GJB2
3 inner ear development GO:0048839 9.32 GJB2 GJB6
4 cell communication GO:0007154 9.26 GJB2 GJB6
5 response to antibiotic GO:0046677 9.16 CASP3 GJB2
6 response to lipopolysaccharide GO:0032496 9.13 CASP3 GJB2 GJB6
7 sensory perception of sound GO:0007605 8.8 CASP3 GJB2 GJB6

Sources for Deafness, Autosomal Dominant 24

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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