MCID: DFN160
MIFTS: 30

Deafness, Autosomal Dominant 52

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

Aliases & Classifications for Deafness, Autosomal Dominant 52

MalaCards integrated aliases for Deafness, Autosomal Dominant 52:

Name: Deafness, Autosomal Dominant 52 53 13 69
Autosomal Dominant Nonsyndromic Deafness 52 12 14
Dfna52 53 12
Deafness, Autosomal Dominant 42; Dfna42 53
Deafness, Autosomal Dominant 42 53
Autosomal Dominant Deafness 52 12
Dfna42 53

Characteristics:

OMIM:

53
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:

OMIM 53 607683
Disease Ontology 12 DOID:0110578
ICD10 32 H90.3
MedGen 39 C1843232
UMLS 69 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, and has symptoms including hearing impairment 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 Increased shRNA abundance (Z-score > 2) 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 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 52 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant nonsyndromic deafness 30.7 DFNA42 POU4F3
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
3 sensorineural hearing loss 9.9

Symptoms & Phenotypes for Deafness, Autosomal Dominant 52

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, sensorineural progressive postlingual, high-frequency progressing to all frequencies
normal vestibular function


Clinical features from OMIM:

607683

Human phenotypes related to Deafness, Autosomal Dominant 52:

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

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

25 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.6 SMAD5
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.6 POU4F3 SMAD5
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.6 SMAD5
4 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.6 SMAD5
5 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.6 SMAD5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.6 SMAD5
7 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.6 POU4F3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.6 SMAD5
9 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.6 POU4F3 SMAD5
10 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.6 SMAD5
11 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.6 POU4F3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.6 POU4F3 SMAD5
13 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.6 SMAD5
14 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.6 POU4F3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.6 SMAD5
16 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.6 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
[Mutation screening of 20 candidate genes located in chromo-some 5q31-5q32 for DFNA52 locus]. ( 19138900 )
2009
2
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 positive regulation of transcription by RNA polymerase II GO:0045944 9.43 NEUROG1 POU4F3 SMAD5
2 inner ear morphogenesis GO:0042472 9.16 NEUROG1 POU4F3
3 inner ear development GO:0048839 8.96 NEUROG1 POU4F3
4 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 GO:0003700 8.8 NEUROG1 POU4F3 SMAD5

Sources for Deafness, Autosomal Dominant 52

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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