Deafness, Autosomal Dominant 50 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

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

Diseases of the ear and mastoid process

Other disorders of ear

Conductive and sensorineural hearing loss

Sensorineural hearing loss, bilateral

External Ids:

OMIM ⁵⁷ 613074

Disease Ontology ¹² DOID:0110576

ICD10 ³³ H90.3

MedGen ⁴² C3888123

SNOMED-CT via HPO ⁶⁹ 263681008 162349004 162352007 more

UMLS ⁷³ C3888123

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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)

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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:

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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

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Drugs & Therapeutics for Deafness, Autosomal Dominant 50

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

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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

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Anatomical Context for Deafness, Autosomal Dominant 50

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Publications for Deafness, Autosomal Dominant 50

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Genes for Deafness, Autosomal Dominant 50

Genes related to Deafness, Autosomal Dominant 50 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MIR96	MicroRNA 96	RNA Gene	1027.34	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Gene name Variants (show sections)	19363479 20301607 14757864
2	MIR183	MicroRNA 183	RNA Gene	8.04	GeneCards inferred via : Variants (show sections)

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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

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Expression for Deafness, Autosomal Dominant 50

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

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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	MicroRNAs in cancer ³⁷	11.1	MIR183 MIR96

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GO Terms for Deafness, Autosomal Dominant 50

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Sources for Deafness, Autosomal Dominant 50

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia