Deafness, Autosomal Dominant 56 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Deafness, Autosomal Dominant 56

MalaCards integrated aliases for Deafness, Autosomal Dominant 56:

Name: Deafness, Autosomal Dominant 56 ⁵⁷ ²⁹ ⁶ ⁷³

Dfna56 ⁵⁷ ¹² ⁷⁵

Autosomal Dominant Nonsyndromic Deafness 56 ¹²

Deafness, Autosomal Dominant, Type 56 ⁴⁰

Deafness, Autosomal Dominant, 56 ⁷⁵

Autosomal Dominant Deafness 56 ¹²

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
two unrelated chinese families have been reported (last curated february 2014)
onset between 8 and 30 years

HPO:

³²

deafness, autosomal dominant 56:
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 615629

Disease Ontology ¹² DOID:0110581

ICD10 ³³ H90.3

MedGen ⁴² C3810170 CN184361

MeSH ⁴⁴ D006319

SNOMED-CT via HPO ⁶⁹ 263681008 103276001 15188001 more

UMLS ⁷³ C3810170

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Summaries for Deafness, Autosomal Dominant 56

UniProtKB/Swiss-Prot : ⁷⁵ Deafness, autosomal dominant, 56: 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. DFNA56 is characterized by progressive hearing impairment with post-lingual onset.

MalaCards based summary : Deafness, Autosomal Dominant 56, is also known as dfna56. An important gene associated with Deafness, Autosomal Dominant 56 is TNC (Tenascin C). Affiliated tissues include brain, and related phenotype is hearing impairment.

OMIM : ⁵⁷ Autosomal dominant deafness-56 is a form of nonsyndromic sensorineural hearing loss. Hearing impairment shows postlingual onset and is progressive (summary by Zhao et al., 2013). (615629)

Disease Ontology : ¹² An autosomal dominant nonsyndromic deafness that has material basis in mutation in the TNC gene on chromosome 9q33.

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Related Diseases for Deafness, Autosomal Dominant 56

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

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Symptoms & Phenotypes for Deafness, Autosomal Dominant 56

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Ears:
hearing loss, postlingual progressive sensorineural

Clinical features from OMIM:

615629

Human phenotypes related to Deafness, Autosomal Dominant 56:

³²

#	Description	HPO Frequency	HPO Source Accession
1	hearing impairment ³²		HP:0000365

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Drugs & Therapeutics for Deafness, Autosomal Dominant 56

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 56

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Genetic Tests for Deafness, Autosomal Dominant 56

Genetic tests related to Deafness, Autosomal Dominant 56:

#	Genetic test	Affiliating Genes
1	Deafness, Autosomal Dominant 56 ²⁹	TNC

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Anatomical Context for Deafness, Autosomal Dominant 56

MalaCards organs/tissues related to Deafness, Autosomal Dominant 56:

⁴¹

Brain

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Publications for Deafness, Autosomal Dominant 56

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Genes for Deafness, Autosomal Dominant 56

Genes related to Deafness, Autosomal Dominant 56 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TNC	Tenascin C	Protein Coding	1337.86	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Gene name Variants (show sections)	23936043

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Variations for Deafness, Autosomal Dominant 56

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 56:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	TNC	p.Val1773Met	VAR_070984	rs137933052
2	TNC	p.Thr1796Ser	VAR_070985	rs431905513

ClinVar genetic disease variations for Deafness, Autosomal Dominant 56:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TNC	NM_002160.3(TNC): c.5317G> A (p.Val1773Met)	single nucleotide variant	Pathogenic	rs137933052	GRCh37	Chromosome 9, 117803295: 117803295
2	TNC	NM_002160.3(TNC): c.5317G> A (p.Val1773Met)	single nucleotide variant	Pathogenic	rs137933052	GRCh38	Chromosome 9, 115041016: 115041016
3	TNC	NM_002160.3(TNC): c.5386A> T (p.Thr1796Ser)	single nucleotide variant	Pathogenic	rs431905513	GRCh37	Chromosome 9, 117803226: 117803226
4	TNC	NM_002160.3(TNC): c.5386A> T (p.Thr1796Ser)	single nucleotide variant	Pathogenic	rs431905513	GRCh38	Chromosome 9, 115040947: 115040947

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Expression for Deafness, Autosomal Dominant 56

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 56.

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Pathways for Deafness, Autosomal Dominant 56

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GO Terms for Deafness, Autosomal Dominant 56

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Sources for Deafness, Autosomal Dominant 56

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