DFNA50
MCID: DFN119
MIFTS: 30

Deafness, Autosomal Dominant 50 (DFNA50)

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

Aliases & Classifications for Deafness, Autosomal Dominant 50

MalaCards integrated aliases for Deafness, Autosomal Dominant 50:

Name: Deafness, Autosomal Dominant 50 57 29 13 6 70
Autosomal Dominant Nonsyndromic Deafness 50 12 15
Dfna50 57 12
Deafness, Autosomal Dominant, Type 50 39
Autosomal Dominant Deafness 50 12

Characteristics:

OMIM®:

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

Miscellaneous:
earliest age of onset 12 years of age
initial hearing loss is mild progressing to severe or profound by the seventh decade
mutations have been identified in spanish families


HPO:

31
deafness, autosomal dominant 50:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110576
OMIM® 57 613074
OMIM Phenotypic Series 57 PS124900
ICD10 32 H90.3
MedGen 41 C3888123
UMLS 70 C3888123

Summaries for Deafness, Autosomal Dominant 50

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32.

MalaCards based summary : Deafness, Autosomal Dominant 50, also known as autosomal dominant nonsyndromic deafness 50, is related to autosomal dominant non-syndromic sensorineural deafness type dfna and tic disorder. An important gene associated with Deafness, Autosomal Dominant 50 is MIR96 (MicroRNA 96). Related phenotypes are tinnitus and sensorineural hearing impairment

OMIM® : 57 Autosomal dominant deafness-50 is a form of nonsyndromic hearing loss. Hearing impairment shows postlingual onset and is progressive (summary by Mencia et al., 2009). (613074) (Updated 05-Apr-2021)

Related Diseases for Deafness, Autosomal Dominant 50

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic sensorineural deafness type dfna 28.9 PTPRQ POU4F3 MIR96 CCDC50
2 tic disorder 10.0 MIR24-1 MIR140
3 cervix disease 10.0 MIR24-1 MIR183 MIR140
4 branchiootic syndrome 1 9.9
5 deafness, autosomal recessive 17 9.9
6 deafness, autosomal recessive 13 9.9
7 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
8 nonsyndromic hearing loss 9.9
9 deafness, autosomal dominant 43 9.9 POU4F3 CCDC50
10 deafness, autosomal dominant 24 9.9 POU4F3 CCDC50
11 deafness, autosomal dominant 18 9.9 POU4F3 CCDC50
12 deafness, autosomal dominant 2b 9.9 POU4F3 CCDC50
13 deafness, autosomal dominant 44 9.9 POU4F3 CCDC50
14 deafness, autosomal dominant 16 9.9 POU4F3 CCDC50
15 deafness, autosomal dominant 2a 9.9 POU4F3 CCDC50
16 deafness, autosomal dominant 25 9.9 POU4F3 CCDC50
17 connective tissue cancer 9.9 MIR24-1 MIR182 MIR140
18 deafness, autosomal dominant 15 9.9 POU4F3 CCDC50
19 lymphatic system cancer 9.9 MIR24-1 MIR182 MIR140
20 deafness, autosomal dominant 10 9.8 POU4F3 CCDC50
21 pancreas disease 9.8 MIR183 MIR182 MIR140
22 colonic disease 9.8 MIR24-1 MIR182 MIR140
23 deafness, autosomal dominant 12 9.8 POU4F3 CCDC50
24 uterine anomalies 9.8 MIR183 MIR182 MIR140
25 nervous system cancer 9.8 MIR24-1 MIR182 MIR140
26 bladder disease 9.8 MIR96 MIR24-1 MIR182 MIR140
27 lymphatic system disease 9.8 MIR96 MIR24-1 MIR182 MIR140
28 digeorge syndrome 9.8 MIR502 MIR24-1 MIR183
29 endocrine gland cancer 9.8 MIR96 MIR183 MIR182 MIR140
30 stomach disease 9.8 MIR24-1 MIR182 MIR140
31 reproductive system disease 9.8 MIR24-1 MIR183 MIR182 MIR140
32 esophageal disease 9.7 MIR24-1 MIR183 MIR182 MIR140
33 prostate disease 9.7 MIR24-1 MIR183 MIR182 MIR140
34 immune system disease 9.7 MIR24-1 MIR182 MIR140
35 urinary system disease 9.7 MIR24-1 MIR183 MIR182 MIR140
36 large intestine cancer 9.7 MIR24-1 MIR183 MIR182 MIR140
37 respiratory system cancer 9.7 MIR24-1 MIR183 MIR182 MIR140
38 thoracic cancer 9.7 MIR24-1 MIR183 MIR182 MIR140
39 endocrine system disease 9.7 MIR24-1 MIR183 MIR182 MIR140
40 intestinal disease 9.7 MIR24-1 MIR183 MIR182 MIR140
41 gastrointestinal system cancer 9.7 MIR24-1 MIR183 MIR182 MIR140
42 gastrointestinal system disease 9.7 MIR24-1 MIR183 MIR182 MIR140
43 male reproductive organ cancer 9.6 MIR96 MIR24-1 MIR183 MIR182 MIR140
44 male reproductive system disease 9.6 MIR96 MIR24-1 MIR183 MIR182 MIR140
45 respiratory system disease 9.6 MIR96 MIR24-1 MIR183 MIR182 MIR140
46 female reproductive system disease 9.6 MIR24-1 MIR183 MIR182 MIR140 MIR136
47 leukemia, chronic lymphocytic 9.6 MIR502 MIR24-1 MIR183 MIR182 MIR140
48 ovarian disease 9.5 MIR24-1 MIR182 MIR140
49 nervous system disease 9.5 MIR96 MIR24-1 MIR183 MIR182 MIR140 MIR136
50 autosomal dominant nonsyndromic deafness 9.3 PTPRQ POU4F3 MYRIP MIR96 CCDC50

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 50:



Diseases related to Deafness, Autosomal Dominant 50

Symptoms & Phenotypes for Deafness, Autosomal Dominant 50

Human phenotypes related to Deafness, Autosomal Dominant 50:

31
# Description HPO Frequency HPO Source Accession
1 tinnitus 31 occasional (7.5%) HP:0000360
2 sensorineural hearing impairment 31 HP:0000407
3 progressive hearing impairment 31 HP:0001730
4 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, progressive (all frequencies)
tinnitus, bilateral (in some patients)

Clinical features from OMIM®:

613074 (Updated 05-Apr-2021)

Drugs & Therapeutics for Deafness, Autosomal Dominant 50

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 50

Genetic Tests for Deafness, Autosomal Dominant 50

Genetic tests related to Deafness, Autosomal Dominant 50:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 50 29 MIR96

Anatomical Context for Deafness, Autosomal Dominant 50

Publications for Deafness, Autosomal Dominant 50

Articles related to Deafness, Autosomal Dominant 50:

# Title Authors PMID Year
1
A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci. 6 57 61
14757864 2004
2
Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss. 57 6
19363479 2009
3
MicroRNA-183 Family in Inner Ear: Hair Cell Development and Deafness. 61
27942598 2016
4
MicroRNAs in hair cell development and deafness. 61
20717030 2010

Variations for Deafness, Autosomal Dominant 50

ClinVar genetic disease variations for Deafness, Autosomal Dominant 50:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MIR96 NR_029512.1(MIR96):n.13G>A SNV Pathogenic 865 rs587776522 GRCh37: 7:129414597-129414597
GRCh38: 7:129774757-129774757
2 MIR96 NR_029512.1(MIR96):n.14C>A SNV Pathogenic 866 rs587776523 GRCh37: 7:129414596-129414596
GRCh38: 7:129774756-129774756

Expression for Deafness, Autosomal Dominant 50

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 50.

Pathways for Deafness, Autosomal Dominant 50

GO Terms for Deafness, Autosomal Dominant 50

Cellular components related to Deafness, Autosomal Dominant 50 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.17 QSOX2 MIR502 MIR24-1 MIR183 MIR182 MIR140

Biological processes related to Deafness, Autosomal Dominant 50 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuromuscular process controlling balance GO:0050885 9.46 POU4F3 PTPRQ
2 negative regulation of cytokine production involved in inflammatory response GO:1900016 9.43 MIR136 MIR140
3 negative regulation of vascular associated smooth muscle cell migration GO:1904753 9.4 MIR140 MIR182
4 cellular response to cholesterol GO:0071397 9.37 MIR96 MIR182
5 positive regulation of fatty acid biosynthetic process GO:0045723 9.32 MIR182 MIR96
6 positive regulation of vascular associated smooth muscle cell apoptotic process GO:1905461 9.26 MIR24-1 MIR140
7 gene silencing by miRNA GO:0035195 9.17 MIR136 MIR140 MIR182 MIR183 MIR24-1 MIR502
8 positive regulation of cholesterol biosynthetic process GO:0045542 9.16 MIR182 MIR96
9 negative regulation of vascular smooth muscle cell proliferation GO:1904706 9.13 MIR96 MIR182 MIR140

Molecular functions related to Deafness, Autosomal Dominant 50 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA 3'-UTR binding GO:0003730 9.13 MIR140 MIR183 MIR24-1
2 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.1 MIR96 MIR24-1 MIR183 MIR182 MIR140 MIR136

Sources for Deafness, Autosomal Dominant 50

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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