DFNA53
MCID: DFN161
MIFTS: 19

Deafness, Autosomal Dominant 53 (DFNA53)

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

Aliases & Classifications for Deafness, Autosomal Dominant 53

MalaCards integrated aliases for Deafness, Autosomal Dominant 53:

Name: Deafness, Autosomal Dominant 53 57 13 70
Autosomal Dominant Nonsyndromic Deafness 53 12 15
Dfna53 57 12
Autosomal Dominant Deafness 53 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset in second decade of life progresses from mild to profound hearing loss
one six-generation family from northern china has been reported (last curated august 2015)


HPO:

31
deafness, autosomal dominant 53:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110579
OMIM® 57 609965
OMIM Phenotypic Series 57 PS124900
ICD10 32 H90.3
MedGen 41 C1864957
SNOMED-CT via HPO 68 263681008 60700002
UMLS 70 C1864957

Summaries for Deafness, Autosomal Dominant 53

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12.

MalaCards based summary : Deafness, Autosomal Dominant 53, also known as autosomal dominant nonsyndromic deafness 53, is related to deafness, autosomal dominant 23 and deafness, autosomal dominant 9. An important gene associated with Deafness, Autosomal Dominant 53 is DFNA53 (Deafness, Autosomal Dominant 53). Related phenotype is sensorineural hearing impairment.

More information from OMIM: 609965 PS124900

Related Diseases for Deafness, Autosomal Dominant 53

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

# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 23 29.5 STXBP6 SLC22A17
2 deafness, autosomal dominant 9 29.2 STXBP6 POU4F3
3 deafness, autosomal recessive 5 29.1 STXBP6 SLC22A17 NRL
4 deafness, autosomal dominant nonsyndromic sensorineural 53 11.3
5 branchiootic syndrome 1 9.9
6 deafness, autosomal recessive 35 9.9
7 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
8 sensorineural hearing loss 9.9
9 autosomal dominant nonsyndromic deafness 9.5 POU4F3 DFNA53

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 53:



Diseases related to Deafness, Autosomal Dominant 53

Symptoms & Phenotypes for Deafness, Autosomal Dominant 53

Human phenotypes related to Deafness, Autosomal Dominant 53:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 very rare (1%) HP:0000407

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, sensorineural, postlingual progressive bilateral (affecting high frequencies)

Clinical features from OMIM®:

609965 (Updated 05-Apr-2021)

Drugs & Therapeutics for Deafness, Autosomal Dominant 53

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 53

Genetic Tests for Deafness, Autosomal Dominant 53

Anatomical Context for Deafness, Autosomal Dominant 53

Publications for Deafness, Autosomal Dominant 53

Articles related to Deafness, Autosomal Dominant 53:

# Title Authors PMID Year
1
A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12. 57 61
15958501 2006

Variations for Deafness, Autosomal Dominant 53

Expression for Deafness, Autosomal Dominant 53

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 53.

Pathways for Deafness, Autosomal Dominant 53

GO Terms for Deafness, Autosomal Dominant 53

Biological processes related to Deafness, Autosomal Dominant 53 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 8.62 POU4F3 NRL

Sources for Deafness, Autosomal Dominant 53

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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