DFNA70
MCID: DFN327
MIFTS: 29

Deafness, Autosomal Dominant 70 (DFNA70)

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

Aliases & Classifications for Deafness, Autosomal Dominant 70

MalaCards integrated aliases for Deafness, Autosomal Dominant 70:

Name: Deafness, Autosomal Dominant 70 57 29 6
Dfna70 57 12 72
Autosomal Dominant Nonsyndromic Deafness 70 12 15
Deafness, Autosomal Dominant, 70 72
Autosomal Dominant Deafness 70 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
variable expressivity
slowly progressive
postlingual onset (second decade or later)
one chinese family has been reported (last curated may 2016)

Inheritance:
autosomal dominant


HPO:

31
deafness, autosomal dominant 70:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity slow progression


Classifications:



External Ids:

Disease Ontology 12 DOID:0110592
OMIM® 57 616968
OMIM Phenotypic Series 57 PS124900
MeSH 44 D006319
ICD10 32 H90.3
SNOMED-CT via HPO 68 263681008

Summaries for Deafness, Autosomal Dominant 70

UniProtKB/Swiss-Prot : 72 Deafness, autosomal dominant, 70: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA70 is characterized by slowly progressive, postlingual hearing impairment.

MalaCards based summary : Deafness, Autosomal Dominant 70, also known as dfna70, is related to cervix endometriosis and t-cell receptor-alpha/beta deficiency. An important gene associated with Deafness, Autosomal Dominant 70 is MCM2 (Minichromosome Maintenance Complex Component 2), and among its related pathways/superpathways are Cell cycle and Cell Cycle Control of Chromosomal Replication. Related phenotypes are progressive sensorineural hearing impairment and mortality/aging

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that has material basis in mutation in the MCM2 gene on chromosome 3q21.

OMIM® : 57 Autosomal dominant deafness-70 is a form of nonsyndromic sensorineural hearing loss. Hearing impairment shows postlingual onset and is slowly progressive (Gao et al., 2015). (616968) (Updated 05-Apr-2021)

Related Diseases for Deafness, Autosomal Dominant 70

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

# Related Disease Score Top Affiliating Genes
1 cervix endometriosis 9.8 MCM7 MCM2
2 t-cell receptor-alpha/beta deficiency 9.8 MCM7 MCM2
3 adenocarcinoma in situ 9.7 MCM7 MCM2
4 beukes hip dysplasia 9.7 UFSP2 UFL1 UBA5
5 isolated growth hormone deficiency, type ia 9.6 TRAIP MCM7
6 follicular adenoma 9.6 MCM7 MCM2
7 meier-gorlin syndrome 8 8.9 UFSP2 UFL1 UBA5 TRAIP MCM9 MCM3AP

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 70:



Diseases related to Deafness, Autosomal Dominant 70

Symptoms & Phenotypes for Deafness, Autosomal Dominant 70

Human phenotypes related to Deafness, Autosomal Dominant 70:

31
# Description HPO Frequency HPO Source Accession
1 progressive sensorineural hearing impairment 31 HP:0000408

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, sensorineural, mild to profound involving high frequencies or all frequencies

Clinical features from OMIM®:

616968 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 70:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.23 MCM2 MCM3AP MCM7 MCM9 TRAIP UBA5

Drugs & Therapeutics for Deafness, Autosomal Dominant 70

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 70

Genetic Tests for Deafness, Autosomal Dominant 70

Genetic tests related to Deafness, Autosomal Dominant 70:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 70 29 MCM2

Anatomical Context for Deafness, Autosomal Dominant 70

Publications for Deafness, Autosomal Dominant 70

Articles related to Deafness, Autosomal Dominant 70:

# Title Authors PMID Year
1
Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family. 57 6
26196677 2015

Variations for Deafness, Autosomal Dominant 70

ClinVar genetic disease variations for Deafness, Autosomal Dominant 70:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MCM2 NM_004526.4(MCM2):c.130C>T (p.Arg44Cys) SNV Pathogenic 235129 rs375851208 GRCh37: 3:127318284-127318284
GRCh38: 3:127599441-127599441
2 MCM2 NM_004526.4(MCM2):c.1231G>A (p.Glu411Lys) SNV Uncertain significance 1032222 GRCh37: 3:127327354-127327354
GRCh38: 3:127608511-127608511
3 MCM2 NM_004526.4(MCM2):c.1447C>T (p.Pro483Ser) SNV Uncertain significance 1032223 GRCh37: 3:127334723-127334723
GRCh38: 3:127615880-127615880
4 MCM2 NM_004526.4(MCM2):c.277G>A (p.Glu93Lys) SNV Uncertain significance 1032224 GRCh37: 3:127323491-127323491
GRCh38: 3:127604648-127604648
5 MCM2 NM_004526.4(MCM2):c.1624C>T (p.Arg542Ter) SNV Uncertain significance 522730 rs755835919 GRCh37: 3:127335812-127335812
GRCh38: 3:127616969-127616969

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 70:

72
# Symbol AA change Variation ID SNP ID
1 MCM2 p.Arg44Cys VAR_077049 rs375851208

Expression for Deafness, Autosomal Dominant 70

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 70.

Pathways for Deafness, Autosomal Dominant 70

Pathways related to Deafness, Autosomal Dominant 70 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.16 MCM9 MCM7 MCM2
2 10.59 MCM7 MCM2

GO Terms for Deafness, Autosomal Dominant 70

Cellular components related to Deafness, Autosomal Dominant 70 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.86 UFSP2 UFL1 UBA5 TRAIP MCM9 MCM7
2 CMG complex GO:0071162 9.16 MCM7 MCM2
3 MCM complex GO:0042555 9.13 MCM9 MCM7 MCM2
4 chromosome GO:0005694 9.1 UFL1 TRAIP MCM9 MCM7 MCM3AP MCM2

Biological processes related to Deafness, Autosomal Dominant 70 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.76 UFL1 TRAIP MCM9 MCM7
2 DNA repair GO:0006281 9.7 UFL1 TRAIP MCM9
3 DNA replication GO:0006260 9.67 MCM9 MCM7 MCM2
4 G1/S transition of mitotic cell cycle GO:0000082 9.56 MCM7 MCM2
5 negative regulation of NF-kappaB transcription factor activity GO:0032088 9.55 UFL1 TRAIP
6 response to endoplasmic reticulum stress GO:0034976 9.54 UFL1 UBA5
7 erythrocyte differentiation GO:0030218 9.51 UFL1 UBA5
8 DNA duplex unwinding GO:0032508 9.5 MCM9 MCM7 MCM2
9 DNA unwinding involved in DNA replication GO:0006268 9.48 MCM7 MCM2
10 reticulophagy GO:0061709 9.43 UFL1 UBA5
11 double-strand break repair via break-induced replication GO:0000727 9.4 MCM7 MCM2
12 pre-replicative complex assembly involved in nuclear cell cycle DNA replication GO:0006267 9.37 MCM7 MCM2
13 protein ufmylation GO:0071569 9.26 UFL1 UBA5
14 protein K69-linked ufmylation GO:1990592 9.16 UFL1 UBA5
15 DNA replication initiation GO:0006270 9.13 MCM9 MCM7 MCM2
16 regulation of intracellular estrogen receptor signaling pathway GO:0033146 8.8 UFSP2 UFL1 UBA5

Molecular functions related to Deafness, Autosomal Dominant 70 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 helicase activity GO:0004386 9.43 MCM9 MCM7 MCM2
2 single-stranded DNA binding GO:0003697 9.33 MCM9 MCM7 MCM2
3 DNA helicase activity GO:0003678 9.13 MCM9 MCM7 MCM2
4 DNA replication origin binding GO:0003688 8.8 MCM9 MCM7 MCM2

Sources for Deafness, Autosomal Dominant 70

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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