DFNA52
MCID: DFN160
MIFTS: 29

Deafness, Autosomal Dominant 52 (DFNA52)

Categories: Blood diseases, 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 58 13 74
Autosomal Dominant Nonsyndromic Deafness 52 12 15
Dfna52 58 12
Deafness, Autosomal Dominant 42; Dfna42 58
Deafness, Autosomal Dominant 42 58
Autosomal Dominant Deafness 52 12
Dfna42 58

Characteristics:

OMIM:

58
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:

33
deafness, autosomal dominant 52:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110578
OMIM 58 607683
ICD10 34 H90.3
MedGen 43 C1843232
UMLS 74 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 autosomal dominant nonsyndromic deafness and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. 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 Increased shRNA abundance (Z-score > 2)

Description from OMIM: 607683

Related Diseases for Deafness, Autosomal Dominant 52

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

# Related Disease Score Top Affiliating Genes
1 autosomal dominant nonsyndromic deafness 11.1
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
3 sensorineural hearing loss 10.1

Symptoms & Phenotypes for Deafness, Autosomal Dominant 52

Human phenotypes related to Deafness, Autosomal Dominant 52:

33
# Description HPO Frequency HPO Source Accession
1 hearing impairment 33 HP:0000365

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
normal vestibular function
hearing loss, sensorineural progressive postlingual, high-frequency progressing to all frequencies

Clinical features from OMIM:

607683

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

27 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.62 SMAD5
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.62 POU4F3 SMAD5
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.62 SMAD5
4 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.62 SMAD5
5 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.62 SMAD5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.62 SMAD5
7 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.62 POU4F3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.62 POU4F3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.62 SMAD5
10 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.62 POU4F3 SMAD5
11 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.62 SMAD5
12 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.62 POU4F3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.62 POU4F3 SMAD5
14 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.62 SMAD5
15 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.62 POU4F3
16 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.62 SMAD5
17 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.62 POU4F3

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

Anatomical Context for Deafness, Autosomal Dominant 52

Publications for Deafness, Autosomal Dominant 52

Articles related to Deafness, Autosomal Dominant 52:

# Title Authors Year
1
Bioinformatics analysis of candidate genes and mutations in a congenital sensorineural hearing loss pedigree: detection of 52 genes for the DFNA52 locus. ( 18312703 )
2008

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 10.77 NEUROG1 SMAD5

GO Terms for Deafness, Autosomal Dominant 52

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, DNA-templated GO:0006355 9.5 NEUROG1 POU4F3 SMAD5
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.43 NEUROG1 POU4F3 SMAD5
3 inner ear morphogenesis GO:0042472 9.16 NEUROG1 POU4F3
4 inner ear development GO:0048839 8.96 NEUROG1 POU4F3
5 neuromuscular process controlling balance GO:0050885 8.62 NEUROG1 POU4F3

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 9.13 NEUROG1 POU4F3 SMAD5
2 DNA-binding transcription factor activity GO:0003700 8.8 NEUROG1 POU4F3 SMAD5

Sources for Deafness, Autosomal Dominant 52

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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