MCID: DFN119
MIFTS: 25

Deafness, Autosomal Dominant 50

Categories: Genetic diseases, Ear diseases, Fetal diseases, Blood diseases, Rare diseases, Neuronal diseases, Cardiovascular 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 73
Autosomal Dominant Nonsyndromic Deafness 50 12 15
Dfna50 57 12
Deafness, Autosomal Dominant, Type 50 40
Autosomal Dominant Deafness 50 12

Characteristics:

OMIM:

57
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:

32
deafness, autosomal dominant 50:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613074
Disease Ontology 12 DOID:0110576
ICD10 33 H90.3
MedGen 42 C3888123
UMLS 73 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 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and melanoma. An important gene associated with Deafness, Autosomal Dominant 50 is MIR96 (MicroRNA 96), and among its related pathways/superpathways is MicroRNAs in cancer. 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)

Related Diseases for Deafness, Autosomal Dominant 50

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 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 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 36 Autosomal Recessive Nonsyndromic Deafness 86
Otof-Related Deafness

Diseases related to Deafness, Autosomal Dominant 50 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
2 melanoma 9.4 MIR183 MIR96
3 retinitis pigmentosa 9.3 MIR183 MIR96
4 hepatocellular carcinoma 9.2 MIR183 MIR96
5 prostate cancer 9.0 MIR183 MIR96

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, sensorineural, progressive (all frequencies)
tinnitus, bilateral (in some patients)


Clinical features from OMIM:

613074

Human phenotypes related to Deafness, Autosomal Dominant 50:

32
# Description HPO Frequency HPO Source Accession
1 tinnitus 32 occasional (7.5%) HP:0000360
2 sensorineural hearing impairment 32 HP:0000407
3 progressive sensorineural hearing impairment 32 HP:0000408
4 progressive hearing impairment 32 HP:0001730

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

Variations for Deafness, Autosomal Dominant 50

ClinVar genetic disease variations for Deafness, Autosomal Dominant 50:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MIR96 NR_029512.1(MIR96): n.13G> A single nucleotide variant Pathogenic rs587776522 GRCh37 Chromosome 7, 129414597: 129414597
2 MIR96 NR_029512.1(MIR96): n.13G> A single nucleotide variant Pathogenic rs587776522 GRCh38 Chromosome 7, 129774757: 129774757
3 MIR96 NR_029512.1(MIR96): n.14C> A single nucleotide variant Pathogenic rs587776523 GRCh37 Chromosome 7, 129414596: 129414596
4 MIR96 NR_029512.1(MIR96): n.14C> A single nucleotide variant Pathogenic rs587776523 GRCh38 Chromosome 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

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

# Super pathways Score Top Affiliating Genes
1 11.1 MIR183 MIR96

GO Terms for Deafness, Autosomal Dominant 50

Sources for Deafness, Autosomal Dominant 50

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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