DFNA56
MCID: DFN274
MIFTS: 34

Deafness, Autosomal Dominant 56 (DFNA56)

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

Aliases & Classifications for Deafness, Autosomal Dominant 56

MalaCards integrated aliases for Deafness, Autosomal Dominant 56:

Name: Deafness, Autosomal Dominant 56 57 29 6 70
Dfna56 57 12 72
Autosomal Dominant Nonsyndromic Deafness 56 12 15
Deafness, Autosomal Dominant, Type 56 39
Deafness, Autosomal Dominant, 56 72
Autosomal Dominant Deafness 56 12

Characteristics:

OMIM®:

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

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


HPO:

31
deafness, autosomal dominant 56:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110581
OMIM® 57 615629
OMIM Phenotypic Series 57 PS124900
MeSH 44 D006319
ICD10 32 H90.3
UMLS 70 C3810170

Summaries for Deafness, Autosomal Dominant 56

UniProtKB/Swiss-Prot : 72 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, also known as dfna56, is related to deafness, autosomal recessive 31 and usher syndrome, type ij. An important gene associated with Deafness, Autosomal Dominant 56 is TNC (Tenascin C), and among its related pathways/superpathways are Cell adhesion_ECM remodeling and Syndecan-4-mediated signaling events. Related phenotypes are hearing impairment and hearing/vestibular/ear

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

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) (Updated 05-Apr-2021)

Related Diseases for Deafness, Autosomal Dominant 56

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

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 31 10.2 WHRN USH2A
2 usher syndrome, type ij 10.2 WHRN USH2A
3 usher syndrome, type iiib 10.2 WHRN USH2A
4 usher syndrome, type iid 10.1 WHRN USH2A
5 superior semicircular canal dehiscence 10.1 SLC26A4 COCH
6 usher syndrome, type if 10.1 WHRN USH2A
7 usher syndrome, type iic 10.1 WHRN USH2A
8 digenic disease 10.0 WHRN USH2A
9 steroid-induced glaucoma 10.0 FN1 COCH
10 calcifying aponeurotic fibroma 10.0 FN1 EGF
11 cogan syndrome 9.9 GJB2 COCH
12 deafness, autosomal dominant 2b 9.9 GJB2 COCH
13 deafness, autosomal recessive 91 9.9 GJB2 COCH
14 deafness, autosomal recessive 79 9.9 WHRN GJB2
15 deafness, autosomal dominant 3a 9.9 GJB2 COCH
16 deafness, autosomal dominant 2a 9.9 GJB2 COCH
17 bullous keratopathy 9.9 TNC NID1
18 retinitis pigmentosa-deafness syndrome 9.9 WHRN USH2A
19 serous labyrinthitis 9.9 SLC26A4 GJB2
20 deafness, autosomal dominant 11 9.9 WHRN GJB2
21 drug-induced hearing loss 9.9 SLC26A4 GJB2
22 deafness, autosomal recessive 9 9.9 SLC26A4 GJB2
23 diffuse idiopathic skeletal hyperostosis 9.9 FN1 EGF
24 deafness, autosomal recessive 7 9.9 SLC26A4 GJB2
25 deafness, autosomal recessive 77 9.9 SLC26A4 GJB2
26 chronic ulcer of skin 9.9 FN1 EGF
27 deafness, autosomal dominant 41 9.9 SLC26A4 GJB2
28 diastrophic dysplasia 9.9 SLC26A4 FN1
29 ear malformation 9.9 SLC26A4 GJB2
30 deafness, autosomal dominant 6 9.9 SLC26A4 GJB2
31 hereditary hearing loss and deafness 9.8 GJB2 COCH
32 deafness, autosomal dominant 36 9.8 SLC26A4 GJB2
33 x-linked nonsyndromic deafness 9.8 SLC26A4 GJB2
34 deafness, autosomal recessive 21 9.8 NID1 GJB2
35 deafness, autosomal recessive 23 9.8 WHRN USH2A GJB2
36 deafness, aminoglycoside-induced 9.7 SLC26A4 GJB2
37 deafness, autosomal recessive 9.7 WHRN SLC26A4 GJB2
38 autosomal recessive nonsyndromic deafness 9.7 WHRN SLC26A4 GJB2
39 autosomal recessive nonsyndromic deafness 3 9.7 WHRN SLC26A4 GJB2
40 deafness, autosomal recessive 2 9.7 WHRN SLC26A4 GJB2
41 non-syndromic genetic deafness 9.7 USH2A GJB2 COCH
42 thyroid gland follicular carcinoma 9.7 SLC26A4 FN1 EGF
43 labyrinthitis 9.7 SLC26A4 GJB2 COCH
44 stickler syndrome 9.7 WHRN SLC26A4 GJB2
45 vestibular disease 9.7 SLC26A4 GJB2 COCH
46 deafness, autosomal dominant 9 9.7 SLC26A4 GJB2 COCH
47 peripheral vertigo 9.7 SLC26A4 GJB2 COCH
48 meniere disease 9.7 SLC26A4 GJB2 COCH
49 deafness, autosomal recessive 1a 9.7 SLC26A4 GJB2 COCH
50 deafness, x-linked 2 9.7 SLC26A4 GJB2

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 56:



Diseases related to Deafness, Autosomal Dominant 56

Symptoms & Phenotypes for Deafness, Autosomal Dominant 56

Human phenotypes related to Deafness, Autosomal Dominant 56:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, postlingual progressive sensorineural

Clinical features from OMIM®:

615629 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 56:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.43 COCH GJB2 SLC26A4 TNC USH2A WHRN
2 nervous system MP:0003631 9.17 FN1 GJB2 NID1 SLC26A4 TNC USH2A

Drugs & Therapeutics for Deafness, Autosomal Dominant 56

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

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

Anatomical Context for Deafness, Autosomal Dominant 56

Publications for Deafness, Autosomal Dominant 56

Articles related to Deafness, Autosomal Dominant 56:

# Title Authors PMID Year
1
Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss. 61 6 57
23936043 2013

Variations for Deafness, Autosomal Dominant 56

ClinVar genetic disease variations for Deafness, Autosomal Dominant 56:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TNC NM_002160.4(TNC):c.5317G>A (p.Val1773Met) SNV Pathogenic 97008 rs137933052 GRCh37: 9:117803295-117803295
GRCh38: 9:115041016-115041016
2 TNC NM_002160.4(TNC):c.5386A>T (p.Thr1796Ser) SNV Pathogenic 97009 rs431905513 GRCh37: 9:117803226-117803226
GRCh38: 9:115040947-115040947
3 TNC NM_002160.4(TNC):c.4646G>A (p.Trp1549Ter) SNV Pathogenic 997478 GRCh37: 9:117810745-117810745
GRCh38: 9:115048466-115048466
4 TNC NM_002160.4(TNC):c.5533del (p.Val1845fs) Deletion Pathogenic 998199 GRCh37: 9:117798500-117798500
GRCh38: 9:115036221-115036221
5 TNC NM_002160.4(TNC):c.1580G>C (p.Cys527Ser) SNV Uncertain significance 1029564 GRCh37: 9:117848430-117848430
GRCh38: 9:115086151-115086151
6 TNC NM_002160.4(TNC):c.2239C>T (p.Arg747Trp) SNV Uncertain significance 1029565 GRCh37: 9:117844979-117844979
GRCh38: 9:115082700-115082700
7 TNC NM_002160.4(TNC):c.2960C>T (p.Thr987Met) SNV Uncertain significance 444776 rs778506429 GRCh37: 9:117836136-117836136
GRCh38: 9:115073857-115073857
8 TNC NM_002160.4(TNC):c.2795G>C (p.Gly932Ala) SNV Uncertain significance 1033486 GRCh37: 9:117838734-117838734
GRCh38: 9:115076455-115076455
9 TNC NM_002160.4(TNC):c.6494A>G (p.Gln2165Arg) SNV Uncertain significance 637026 rs200330029 GRCh37: 9:117786253-117786253
GRCh38: 9:115023974-115023974
10 TNC NM_002160.4(TNC):c.2374G>T (p.Gly792Cys) SNV Uncertain significance 805674 rs150868783 GRCh37: 9:117844081-117844081
GRCh38: 9:115081802-115081802
11 TNC NM_002160.4(TNC):c.6496-18del Deletion Uncertain significance 930251 GRCh37: 9:117783564-117783564
GRCh38: 9:115021285-115021285
12 overlap with 4 genes Duplication Uncertain significance 560147 GRCh37: 9:117666205-119059572
GRCh38:
13 TNC NM_002160.4(TNC):c.890A>G (p.Asn297Ser) SNV Uncertain significance 523449 rs1554717312 GRCh37: 9:117849120-117849120
GRCh38: 9:115086841-115086841
14 TNC NM_002160.4(TNC):c.2340G>T (p.Glu780Asp) SNV Likely benign 689600 rs201169030 GRCh37: 9:117844115-117844115
GRCh38: 9:115081836-115081836

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

72
# Symbol AA change Variation ID SNP ID
1 TNC p.Val1773Met VAR_070984 rs137933052
2 TNC p.Thr1796Ser VAR_070985 rs431905513

Expression for Deafness, Autosomal Dominant 56

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

Pathways for Deafness, Autosomal Dominant 56

Pathways related to Deafness, Autosomal Dominant 56 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.94 NID1 FN1
2 10.45 TNC FN1
3 9.88 TNC FN1

GO Terms for Deafness, Autosomal Dominant 56

Cellular components related to Deafness, Autosomal Dominant 56 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.93 USH2A TNC NID1 FN1 EGF COCH
2 collagen-containing extracellular matrix GO:0062023 9.71 TNC NID1 FN1 COCH
3 apical plasma membrane GO:0016324 9.69 USH2A SLC26A4 FN1
4 extracellular matrix GO:0031012 9.56 TNC NID1 FN1 COCH
5 photoreceptor inner segment GO:0001917 9.49 WHRN USH2A
6 photoreceptor connecting cilium GO:0032391 9.48 WHRN USH2A
7 stereocilium bundle GO:0032421 9.43 WHRN USH2A
8 periciliary membrane compartment GO:1990075 9.37 WHRN USH2A
9 stereocilia ankle link complex GO:0002142 9.32 WHRN USH2A
10 USH2 complex GO:1990696 9.16 WHRN USH2A
11 stereocilia ankle link GO:0002141 8.96 WHRN USH2A
12 basement membrane GO:0005604 8.92 USH2A TNC NID1 FN1

Biological processes related to Deafness, Autosomal Dominant 56 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.46 WHRN TNC FN1 EGF
2 extracellular matrix organization GO:0030198 9.43 TNC NID1 FN1
3 substrate adhesion-dependent cell spreading GO:0034446 9.37 USH2A FN1
4 establishment of protein localization GO:0045184 9.32 WHRN USH2A
5 sensory perception of sound GO:0007605 9.02 WHRN USH2A SLC26A4 GJB2 COCH
6 sensory perception of light stimulus GO:0050953 8.96 WHRN USH2A

Molecular functions related to Deafness, Autosomal Dominant 56 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteoglycan binding GO:0043394 9.16 NID1 FN1
2 extracellular matrix structural constituent GO:0005201 9.13 TNC NID1 FN1
3 collagen binding GO:0005518 8.92 USH2A NID1 FN1 COCH

Sources for Deafness, Autosomal Dominant 56

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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