DFNA51
MCID: DFN246
MIFTS: 28

Deafness, Autosomal Dominant 51 (DFNA51)

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

Aliases & Classifications for Deafness, Autosomal Dominant 51

MalaCards integrated aliases for Deafness, Autosomal Dominant 51:

Name: Deafness, Autosomal Dominant 51 56 29 13 6 71
Autosomal Dominant Nonsyndromic Deafness 51 12 15
Chromosome 9q21.11 Duplication Syndrome 56 12
Dfna51 56 12
Deafness, Autosomal Dominant, Type 51 39
Autosomal Dominant Deafness 51 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
onset in the fourth decade


HPO:

31
deafness, autosomal dominant 51:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0110577
OMIM 56 613558
OMIM Phenotypic Series 56 PS124900
ICD10 32 H90.3
MedGen 41 C3160736
UMLS 71 C3160736

Summaries for Deafness, Autosomal Dominant 51

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.

MalaCards based summary : Deafness, Autosomal Dominant 51, also known as autosomal dominant nonsyndromic deafness 51, is related to nonsyndromic deafness and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Deafness, Autosomal Dominant 51 is TJP2 (Tight Junction Protein 2), and among its related pathways/superpathways are Tight junction and Cell adhesion_Endothelial cell contacts by junctional mechanisms. Related phenotypes are hearing impairment and hearing/vestibular/ear

More information from OMIM: 613558 PS124900

Related Diseases for Deafness, Autosomal Dominant 51

Diseases in the Rare 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
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
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 32
Autosomal Recessive Nonsyndromic Deafness 36 Otof-Related Deafness
Familial Deafness

Diseases related to Deafness, Autosomal Dominant 51 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic deafness 26.5 TPRN SMPX OTOA MT-TS1 MT-RNR1 MARVELD2
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
3 age-related hearing loss 10.2
4 deafness, autosomal dominant 44 10.2 GSDME CCDC50
5 deafness, autosomal dominant 13 10.2 GSDME CCDC50
6 deafness, autosomal dominant 10 10.1 GSDME CCDC50
7 deafness, autosomal recessive 91 10.1 TPRN GSDME
8 deafness, autosomal recessive 39 10.0 OTOA CLDN14
9 deafness, autosomal dominant 20 10.0 TPRN GSDME
10 deafness, autosomal recessive 1b 10.0 TPRN SMPX
11 autosomal dominant non-syndromic sensorineural deafness type dfna 10.0 TJP2 GSDME CCDC50
12 autosomal recessive nonsyndromic deafness 10.0 TPRN OTOA
13 autosomal recessive nonsyndromic deafness 3 10.0 TPRN OTOA
14 deafness, autosomal recessive 61 10.0 TPRN OTOA
15 deafness, autosomal dominant 12 9.9 GSDME CCDC50
16 deafness, autosomal recessive 28 9.9 TPRN OTOA
17 deafness, autosomal recessive 79 9.9 TPRN SMPX
18 hereditary hearing loss and deafness 9.9 SMPX CLDN14 CCDC50
19 deafness, autosomal recessive 66 9.9 TPRN OTOA
20 deafness, autosomal recessive 42 9.9 MARVELD2 CLDN14
21 deafness, autosomal recessive 1a 9.8 OTOA GSDME CLDN14
22 nonsyndromic hearing loss and deafness, mitochondrial 9.8 MT-TS1 MT-RNR1
23 deafness, autosomal recessive 29 9.8 MARVELD2 CLDN14
24 mitochondrial non-syndromic sensorineural deafness 9.8 MT-TS1 MT-RNR1
25 deafness, aminoglycoside-induced 9.8 MT-TS1 MT-RNR1
26 deafness, nonsyndromic sensorineural, mitochondrial 9.8 MT-TS1 MT-RNR1
27 deafness, autosomal recessive 49 9.7 OTOA MARVELD2 CLDN14
28 deafness, autosomal dominant 3b 9.7 TPRN SMPX OTOA
29 deafness, autosomal recessive 9.6 TPRN OTOA MARVELD2
30 myoclonic epilepsy associated with ragged-red fibers 9.5 MT-TS1 MT-RNR1
31 otosclerosis 9.4 TJP2 MT-RNR1
32 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.3 TPRN OTOA MARVELD2 CLDN14
33 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.2 OTOA MT-TS1 MT-RNR1 GSDME
34 x-linked nonsyndromic deafness 8.8 TPRN SMPX MT-TS1 MT-RNR1 GSDME
35 rare genetic deafness 8.7 OTOA MT-TS1 MT-RNR1 MARVELD2 GSDME
36 auditory system disease 8.5 TPRN SMPX OTOA MT-RNR1 GSDME CLDN14
37 autosomal dominant nonsyndromic deafness 8.1 TPRN TJP2 OTOA MT-TS1 MT-RNR1 GSDME
38 sensorineural hearing loss 7.7 TPRN SMPX OTOA MT-TS1 MT-RNR1 MARVELD2

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 51:



Diseases related to Deafness, Autosomal Dominant 51

Symptoms & Phenotypes for Deafness, Autosomal Dominant 51

Human phenotypes related to Deafness, Autosomal Dominant 51:

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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing loss, age-related

Clinical features from OMIM:

613558

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 51:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.02 CLDN14 GSDME MARVELD2 OTOA TPRN

Drugs & Therapeutics for Deafness, Autosomal Dominant 51

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 51

Genetic Tests for Deafness, Autosomal Dominant 51

Genetic tests related to Deafness, Autosomal Dominant 51:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 51 29

Anatomical Context for Deafness, Autosomal Dominant 51

Publications for Deafness, Autosomal Dominant 51

Articles related to Deafness, Autosomal Dominant 51:

# Title Authors PMID Year
1
Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51. 61 56
20602916 2010
2
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
3
Genetic analysis of genes related to tight junction function in the Korean population with non-syndromic hearing loss. 61
24752540 2014

Variations for Deafness, Autosomal Dominant 51

ClinVar genetic disease variations for Deafness, Autosomal Dominant 51:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TJP2 NC_000009.11:g.71704982_71840362dupduplication Pathogenic 236035 9:71704982-71840362 9:69090066-69225446
2 TJP2 NC_000009.11:g.71705804_71974823invdupduplication Pathogenic 236063

Expression for Deafness, Autosomal Dominant 51

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 51.

Pathways for Deafness, Autosomal Dominant 51

Pathways related to Deafness, Autosomal Dominant 51 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.03 TJP2 MARVELD2 CLDN14
2 10.46 TJP2 CLDN14

GO Terms for Deafness, Autosomal Dominant 51

Cellular components related to Deafness, Autosomal Dominant 51 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 bicellular tight junction GO:0005923 8.8 TJP2 MARVELD2 CLDN14

Biological processes related to Deafness, Autosomal Dominant 51 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.02 TPRN OTOA MARVELD2 GSDME CCDC50

Sources for Deafness, Autosomal Dominant 51

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....