MCID: DFN151
MIFTS: 33

Deafness, Autosomal Dominant 24

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

Aliases & Classifications for Deafness, Autosomal Dominant 24

MalaCards integrated aliases for Deafness, Autosomal Dominant 24:

Name: Deafness, Autosomal Dominant 24 53 13 69
Autosomal Dominant Nonsyndromic Deafness 24 12 14
Dfna24 53 12
Autosomal Dominant Deafness 24 12

Characteristics:

OMIM:

53
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:

OMIM 53 606282
Disease Ontology 12 DOID:0110554
ICD10 32 H90.3
MedGen 39 C1853451
UMLS 69 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 testicular disease, and has symptoms including hearing impairment 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. Related phenotypes are hearing/vestibular/ear and no phenotypic analysis

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 32 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 Recessive 105 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 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86

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

(show all 32)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant nonsyndromic deafness 30.9 DFNA24 GJB2
2 testicular disease 10.0 CASP3 GJB6
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
4 deafness, autosomal recessive 1b 9.8 GJB2 GJB6
5 deafness, x-linked 2 9.8 GJB2 GJB6
6 kid syndrome 9.8 GJB2 GJB6
7 pseudoainhum 9.8 GJB2 GJB6
8 knuckle pads, leukonychia, and sensorineural deafness 9.8 GJB2 GJB6
9 deafness, autosomal recessive 1a 9.8 GJB2 GJB6
10 congenital cytomegalovirus 9.8 GJB2 GJB6
11 hodgkin's lymphoma, nodular sclerosis 9.8 GJB2 GJB6
12 dfnb1 9.8 GJB2 GJB6
13 vohwinkel syndrome 9.8 GJB2 GJB6
14 knuckle pads 9.8 GJB2 GJB6
15 non-syndromic genetic deafness 9.8 GJB2 GJB6
16 vestibular disease 9.8 GJB2 GJB6
17 deafness, autosomal recessive 16 9.7 GJB2 GJB6
18 deafness, autosomal dominant 2a 9.7 GJB2 GJB6
19 erythrokeratodermia variabilis et progressiva 1 9.7 GJB2 GJB6
20 autosomal dominant non-syndromic sensorineural deafness type dfna 9.7 GJB2 GJB6
21 clouston syndrome 9.7 GJB2 GJB6
22 deafness, autosomal recessive 12 9.7 GJB2 GJB6
23 inner ear disease 9.7 GJB2 GJB6
24 keratitis, hereditary 9.7 GJB2 GJB6
25 auditory system disease 9.7 GJB2 GJB6
26 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 GJB2 GJB6
27 corneal disease 9.6 GJB2 GJB6
28 nervous system disease 9.6 CASP3 GJB2
29 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.6 GJB2 GJB6
30 sensorineural hearing loss 9.5 GJB2 GJB6
31 skin disease 9.4 GJB2 GJB6
32 nonsyndromic deafness 9.3 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:

53
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:

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

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 24:

43
# 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

Publications for Deafness, Autosomal Dominant 24

Articles related to Deafness, Autosomal Dominant 24:

# Title Authors Year
1
Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment. ( 16717440 )
2006
2
A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred. ( 10739769 )
2000

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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