DFNA52
MCID: DFN160
MIFTS: 25

Deafness, Autosomal Dominant 52 (DFNA52)

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

Aliases & Classifications for Deafness, Autosomal Dominant 52

MalaCards integrated aliases for Deafness, Autosomal Dominant 52:

Name: Deafness, Autosomal Dominant 52 57 29 13 70
Autosomal Dominant Nonsyndromic Deafness 52 12 15
Dfna52 57 12
Deafness, Autosomal Dominant 42; Dfna42 57
Deafness, Autosomal Dominant 42 57
Autosomal Dominant Deafness 52 12
Dfna42 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
hearing loss progresses to profound deafness
age of onset between 20 to 30 years
one chinese family with 14 affected individuals has been described (last curated february 2014)


HPO:

31
deafness, autosomal dominant 52:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110578
OMIM® 57 607683
OMIM Phenotypic Series 57 PS124900
ICD10 32 H90.3
MedGen 41 C1843232
UMLS 70 C1843232

Summaries for Deafness, Autosomal Dominant 52

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32.

MalaCards based summary : Deafness, Autosomal Dominant 52, also known as autosomal dominant nonsyndromic deafness 52, is related to sensorineural hearing loss and branchiootic syndrome 1. An important gene associated with Deafness, Autosomal Dominant 52 is DFNA42 (Deafness, Autosomal Dominant 42), and among its related pathways/superpathways is Signaling pathways regulating pluripotency of stem cells. Related phenotypes are hearing impairment and Decreased shRNA abundance (Z-score < -2)

More information from OMIM: 607683 PS124900

Related Diseases for Deafness, Autosomal Dominant 52

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
Deafness, Autosomal Dominant 80 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 52 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 sensorineural hearing loss 10.1
2 branchiootic syndrome 1 9.9
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
4 autosomal dominant nonsyndromic deafness 9.6 POU4F3 DFNA42

Symptoms & Phenotypes for Deafness, Autosomal Dominant 52

Human phenotypes related to Deafness, Autosomal Dominant 52:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Ears:
normal vestibular function
hearing loss, sensorineural progressive postlingual, high-frequency progressing to all frequencies

Clinical features from OMIM®:

607683 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Deafness, Autosomal Dominant 52 according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.5 POU4F3 SMAD5
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-113 9.5 SMAD5
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-138 9.5 SMAD5
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-140 9.5 SMAD5
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.5 POU4F3
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.5 SMAD5
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.5 SMAD5
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.5 SMAD5
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.5 SMAD5
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.5 POU4F3 SMAD5
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-85 9.5 POU4F3
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.5 SMAD5
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.5 SMAD5

Drugs & Therapeutics for Deafness, Autosomal Dominant 52

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 52

Genetic Tests for Deafness, Autosomal Dominant 52

Genetic tests related to Deafness, Autosomal Dominant 52:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 52 29

Anatomical Context for Deafness, Autosomal Dominant 52

Publications for Deafness, Autosomal Dominant 52

Articles related to Deafness, Autosomal Dominant 52:

# Title Authors PMID Year
1
Bioinformatics analysis of candidate genes and mutations in a congenital sensorineural hearing loss pedigree: detection of 52 genes for the DFNA52 locus. 57 61
18312703 2008
2
A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree. 57
12522684 2002
3
Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing loss. 61
27535032 2017
4
[Mutation screening of 20 candidate genes located in chromo-some 5q31-5q32 for DFNA52 locus]. 61
19138900 2009

Variations for Deafness, Autosomal Dominant 52

Expression for Deafness, Autosomal Dominant 52

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 52.

Pathways for Deafness, Autosomal Dominant 52

Pathways related to Deafness, Autosomal Dominant 52 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.78 SMAD5 NEUROG1

GO Terms for Deafness, Autosomal Dominant 52

Cellular components related to Deafness, Autosomal Dominant 52 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 8.8 SMAD5 POU4F3 NEUROG1

Biological processes related to Deafness, Autosomal Dominant 52 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.58 SMAD5 POU4F3 NEUROG1
2 regulation of transcription, DNA-templated GO:0006355 9.54 SMAD5 POU4F3 NEUROG1
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.5 SMAD5 POU4F3 NEUROG1
4 cell differentiation GO:0030154 9.43 SMAD5 POU4F3 NEUROG1
5 inner ear morphogenesis GO:0042472 9.16 POU4F3 NEUROG1
6 inner ear development GO:0048839 8.96 POU4F3 NEUROG1
7 neuromuscular process controlling balance GO:0050885 8.62 POU4F3 NEUROG1

Molecular functions related to Deafness, Autosomal Dominant 52 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.43 SMAD5 POU4F3 NEUROG1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.33 SMAD5 POU4F3 NEUROG1
3 DNA-binding transcription factor activity GO:0003700 9.13 SMAD5 POU4F3 NEUROG1
4 sequence-specific double-stranded DNA binding GO:1990837 8.8 SMAD5 POU4F3 NEUROG1

Sources for Deafness, Autosomal Dominant 52

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....