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MCID: DFN119
MIFTS: 28

Deafness, Autosomal Dominant 50

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Deafness, Autosomal Dominant 50

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Ear diseases Blood diseases Neuronal diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

OMIM 57 613074
Disease Ontology 12 DOID:0110576
ICD10 33 H90.3
MedGen 42 C3888123
UMLS 73 C3888123
Sources

Summaries for Deafness, Autosomal Dominant 50

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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. Affiliated tissues include prostate, and related phenotypes are sensorineural hearing impairment and tinnitus

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)

Sources

Related Diseases for Deafness, Autosomal Dominant 50

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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
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 105 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 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 10.1
2 melanoma 9.8 MIR183 MIR96
3 retinitis pigmentosa 9.8 MIR183 MIR96
4 hepatocellular carcinoma 9.8 MIR183 MIR96
5 prostate cancer 9.7 MIR183 MIR96

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



Diseases related to Deafness, Autosomal Dominant 50
Sources

Symptoms & Phenotypes for Deafness, Autosomal Dominant 50

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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 sensorineural hearing impairment 32 HP:0000407
2 tinnitus 32 occasional (7.5%) HP:0000360
3 progressive hearing impairment 32 HP:0001730
4 progressive sensorineural hearing impairment 32 HP:0000408
Sources

Drugs & Therapeutics for Deafness, Autosomal Dominant 50

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

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Genetic Tests for Deafness, Autosomal Dominant 50

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Genetic tests related to Deafness, Autosomal Dominant 50:

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

Anatomical Context for Deafness, Autosomal Dominant 50

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MalaCards organs/tissues related to Deafness, Autosomal Dominant 50:

41
Prostate
Sources

Publications for Deafness, Autosomal Dominant 50

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Sources

Variations for Deafness, Autosomal Dominant 50

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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
Sources

Expression for Deafness, Autosomal Dominant 50

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

Pathways for Deafness, Autosomal Dominant 50

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

# Super pathways Score Top Affiliating Genes
1
MicroRNAs in cancer 37
11.1 MIR183 MIR96
Sources

GO Terms for Deafness, Autosomal Dominant 50

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

# Name GO ID Score Top Affiliating Genes
1 micro-ribonucleoprotein complex GO:0035068 8.62 MIR183 MIR96

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

# Name GO ID Score Top Affiliating Genes
1 gene silencing by miRNA GO:0035195 9.16 MIR183 MIR96
2 positive regulation of fatty acid biosynthetic process GO:0045723 8.96 MIR183 MIR96
3 positive regulation of cholesterol biosynthetic process GO:0045542 8.62 MIR183 MIR96
Sources

Sources for Deafness, Autosomal Dominant 50

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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