DFNA21
MCID: DFN150
MIFTS: 29

Deafness, Autosomal Dominant 21 (DFNA21)

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

Aliases & Classifications for Deafness, Autosomal Dominant 21

MalaCards integrated aliases for Deafness, Autosomal Dominant 21:

Name: Deafness, Autosomal Dominant 21 58 13 74
Autosomal Dominant Nonsyndromic Deafness 21 12 15
Dfna21 58 12
Autosomal Dominant Deafness 21 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
age of onset 25-45 years of age (one patient presented with hearing loss at age 4)
based on a report of one dutch family (last curated august 2015)


HPO:

33
deafness, autosomal dominant 21:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110551
OMIM 58 607017
ICD10 34 H90.3
MedGen 43 C1846922
SNOMED-CT via HPO 70 263681008 60700002
UMLS 74 C1846922

Summaries for Deafness, Autosomal Dominant 21

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3.

MalaCards based summary : Deafness, Autosomal Dominant 21, also known as autosomal dominant nonsyndromic deafness 21, is related to deafness, autosomal dominant 20 and deafness, autosomal dominant 6. An important gene associated with Deafness, Autosomal Dominant 21 is DFNA21 (Deafness, Autosomal Dominant 21). Related phenotypes are sensorineural hearing impairment and Increased shRNA abundance (Z-score > 2)

Description from OMIM: 607017

Related Diseases for Deafness, Autosomal Dominant 21

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
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 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 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 21 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 20 29.9 GSDME MYH14
2 deafness, autosomal dominant 6 29.7 GSDME MYH14
3 cone-rod dystrophy and hearing loss 2 11.1
4 autosomal dominant nonsyndromic deafness 11.1
5 deafness, autosomal dominant 7 10.1
6 deafness, autosomal dominant 16 10.1
7 deafness, autosomal dominant 17 9.9 GSDME MYH14
8 deafness, autosomal dominant 31 9.4 MYLIP POU5F1 SOX4
9 deafness, autosomal dominant 13 9.2 GSDME MYLIP POU5F1 SOX4

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 21:



Diseases related to Deafness, Autosomal Dominant 21

Symptoms & Phenotypes for Deafness, Autosomal Dominant 21

Human phenotypes related to Deafness, Autosomal Dominant 21:

33
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 33 HP:0000407

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
hearing loss, sensorineural

Clinical features from OMIM:

607017

GenomeRNAi Phenotypes related to Deafness, Autosomal Dominant 21 according to GeneCards Suite gene sharing:

27 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.5 GSDME
2 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.5 GSDME
3 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.5 GSDME SOX4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.5 GSDME
5 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.5 GSDME
6 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.5 SOX4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.5 SOX4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.5 GSDME
9 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.5 SOX4
10 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.5 GSDME
11 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.5 SOX4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.5 GSDME
13 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.5 SOX4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.5 SOX4

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 21:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.02 GABBR1 GSDME MYH14 POU5F1 SOX4

Drugs & Therapeutics for Deafness, Autosomal Dominant 21

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 21

Genetic Tests for Deafness, Autosomal Dominant 21

Anatomical Context for Deafness, Autosomal Dominant 21

Publications for Deafness, Autosomal Dominant 21

Articles related to Deafness, Autosomal Dominant 21:

# Title Authors Year
1
Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3. ( 16007628 )
2005
2
Clinical presentation of the DFNA loci where causative genes have not yet been cloned. DFNA4, DFNA6/14, DFNA7, DFNA16, DFNA20 and DFNA21. ( 12408070 )
2002
3
Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21). ( 10764236 )
2000

Variations for Deafness, Autosomal Dominant 21

Expression for Deafness, Autosomal Dominant 21

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 21.

Pathways for Deafness, Autosomal Dominant 21

GO Terms for Deafness, Autosomal Dominant 21

Biological processes related to Deafness, Autosomal Dominant 21 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.96 GSDME MYH14
2 somatic stem cell population maintenance GO:0035019 8.62 POU5F1 SOX4

Molecular functions related to Deafness, Autosomal Dominant 21 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region sequence-specific DNA binding GO:0000976 8.62 POU5F1 SOX4

Sources for Deafness, Autosomal Dominant 21

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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