ARVD6
MCID: ARR049
MIFTS: 33

Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 (ARVD6)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 6

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 6:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 57 29 70
Arrhythmogenic Right Ventricular Dysplasia 6 57 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 6 57 12
Arvd6 57 12
Arvc6 57 12
Arrhythmogenic Right Ventricular Cardiomyopathy 6; Arvc6 57
Familial Arrhythmogenic Right Ventricular Dysplasia 6 12

Characteristics:

HPO:

31
arrhythmogenic right ventricular dysplasia, familial, 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110075
OMIM® 57 604401
OMIM Phenotypic Series 57 PS107970
ICD10 32 I42.8
MedGen 41 C1858378
UMLS 70 C1858378

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 6

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12.

MalaCards based summary : Arrhythmogenic Right Ventricular Dysplasia, Familial, 6, also known as arrhythmogenic right ventricular dysplasia 6, is related to atrial standstill 1 and arrhythmogenic right ventricular cardiomyopathy. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 is ARVD6 (Arrhythmogenic Right Ventricular Dysplasia 6), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include heart and skin, and related phenotypes are sudden cardiac death and ventricular extrasystoles

More information from OMIM: 604401 PS107970

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 6

Diseases in the Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 family:

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 Arrhythmogenic Right Ventricular Dysplasia, Familial, 14

Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 atrial standstill 1 28.2 TMEM43 RYR2 PKP2 JUP DSP DSG2
2 arrhythmogenic right ventricular cardiomyopathy 27.7 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
3 arrhythmogenic right ventricular dysplasia, familial, 14 9.9
4 right bundle branch block 9.9 PKP2 DSG2
5 cardiomyopathy, dilated, 1h 9.9 TMEM43 DSP DSC2
6 cardiomyopathy, dilated, 1a 9.9 TMEM43 DSP DSC2
7 ritter's disease 9.9 DSP DSG2 DSC2
8 ventricular fibrillation, paroxysmal familial, 1 9.9 RYR2 DSP
9 paraneoplastic pemphigus 9.9 DSP DSG2 DSC2
10 bullous skin disease 9.9 DSP DSG2 DSC2
11 left ventricular noncompaction 1 9.9 PKP2 JUP
12 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.8 RYR2 PKP2 DSP
13 grover's disease 9.8 JUP DSP
14 epidermolysis bullosa, lethal acantholytic 9.8 JUP DSP
15 restrictive cardiomyopathy 9.8 PKP2 DSP DSG2
16 familial isolated arrhythmogenic right ventricular dysplasia 9.8 TMEM43 PKP2 DSP DSC2
17 cardiac conduction defect 9.8 RYR2 DSP DSG2
18 lmna-related dilated cardiomyopathy 9.8 DSP DSC2
19 diffuse palmoplantar keratoderma 9.8 JUP DSP
20 cardiac arrest 9.7 RYR2 DSP DSG2
21 familial atrial fibrillation 9.7 RYR2 PKP2 DSG2
22 palmoplantar keratoderma and woolly hair 9.7 JUP DSP DSC2
23 ectodermal dysplasia/skin fragility syndrome 9.7 JUP DSP DSC2
24 darier-white disease 9.7 JUP DSP DSC2
25 benign chronic pemphigus 9.6 JUP DSP
26 long qt syndrome 1 9.6 RYR2 PKP2 DSP DSG2
27 pemphigus vulgaris, familial 9.6 JUP DSP DSG2
28 pemphigus 9.5 JUP DSP DSG2 DSC2
29 cardiac arrhythmia 9.4 RYR2 PKP2 JUP DSP
30 palmoplantar keratosis 9.3 PKP2 JUP DSP DSG2 DSC2
31 left bundle branch hemiblock 9.3 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
32 arrhythmogenic right ventricular dysplasia, familial, 13 9.3 TGFB3 RYR2 PKP2 FRMD4A DSP
33 intrinsic cardiomyopathy 9.3 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
34 catecholaminergic polymorphic ventricular tachycardia 9.3 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
35 heart conduction disease 9.3 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
36 long qt syndrome 9.3 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
37 arrhythmogenic right ventricular dysplasia, familial, 3 9.2 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
38 arrhythmogenic right ventricular dysplasia, familial, 2 9.0 TMEM43 TGFB3 RYR2 PKP2 DSP DSG2
39 arrhythmogenic right ventricular dysplasia, familial, 1 8.9 TGFB3 RYR2 PKP2 FRMD4A DSP DSG2
40 palmoplantar keratoderma, nonepidermolytic 8.8 TMEM43 RYR2 PKP2 JUP DSP DSG2
41 arrhythmogenic right ventricular dysplasia, familial, 12 8.7 TMEM43 TGFB3 RYR2 PKP2 JUP DSG2
42 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 8.5 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
43 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 8.5 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
44 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 8.5 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
45 familial woolly hair syndrome 8.5 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
46 arrhythmogenic right ventricular dysplasia, familial, 11 8.5 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
47 arrhythmogenic right ventricular dysplasia, familial, 10 8.5 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
48 arrhythmogenic right ventricular dysplasia, familial, 9 8.5 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
49 arrhythmogenic right ventricular dysplasia, familial, 8 8.5 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
50 cardiomyopathy, dilated, with woolly hair and keratoderma 8.5 TMEM43 TGFB3 RYR2 PKP2 JUP DSP

Graphical network of the top 20 diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 6:



Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 6

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 6

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 6:

31
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 31 very rare (1%) HP:0001645
2 ventricular extrasystoles 31 very rare (1%) HP:0006682
3 right ventricular cardiomyopathy 31 HP:0011663

Clinical features from OMIM®:

604401 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.56 DSC2 DSG2 DSP JUP PKP2 RYR2
2 muscle MP:0005369 9.02 DSG2 DSP JUP PKP2 RYR2

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 6

Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 6

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 6

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 6:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 29

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 6

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 6:

40
Heart, Skin

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 6

Articles related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 6:

# Title Authors PMID Year
1
Human protein tyrosine phosphatase-like gene: expression profile, genomic structure, and mutation analysis in families with ARVD. 57
11054553 2000
2
The locus of a novel gene responsible for arrhythmogenic right-ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14. 57
10631146 2000
3
[Rhythm and conduction disorders immediately after ventricular fulguration]. 61
3134864 1988

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 6

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 6

Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia, Familial, 6.

Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 6

Pathways related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.93 PKP2 JUP DSP DSG2 DSC2
2
Show member pathways
11.81 PKP2 JUP DSP DSG2 DSC2
3 11.29 RYR2 PKP2 JUP DSP DSG2 DSC2
4 11.08 RYR2 JUP DSP
5 10.76 JUP DSP

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 6

Cellular components related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.85 PKP2 JUP FRMD4A DSP DSG2 DSC2
2 cell-cell junction GO:0005911 9.65 PKP2 JUP DSP DSG2 DSC2
3 adherens junction GO:0005912 9.62 PKP2 JUP FRMD4A DSC2
4 intermediate filament GO:0005882 9.61 PKP2 JUP DSP
5 intercalated disc GO:0014704 9.55 PKP2 JUP DSP DSG2 DSC2
6 fascia adherens GO:0005916 9.4 JUP DSP
7 cornified envelope GO:0001533 9.35 PKP2 JUP DSP DSG2 DSC2
8 desmosome GO:0030057 9.02 PKP2 JUP DSP DSG2 DSC2

Biological processes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.8 PKP2 JUP DSG2 DSC2
2 keratinization GO:0031424 9.8 PKP2 JUP DSP DSG2 DSC2
3 cell-cell adhesion GO:0098609 9.77 PKP2 JUP DSP DSG2 DSC2
4 cornification GO:0070268 9.65 PKP2 JUP DSP DSG2 DSC2
5 positive regulation of protein secretion GO:0050714 9.55 TGFB3 FRMD4A
6 regulation of heart rate by cardiac conduction GO:0086091 9.55 PKP2 JUP DSP DSG2 DSC2
7 skin development GO:0043588 9.54 JUP DSP
8 adherens junction organization GO:0034332 9.52 JUP DSP
9 response to progesterone GO:0032570 9.51 TGFB3 DSG2
10 desmosome organization GO:0002934 9.5 PKP2 DSP DSG2
11 ventricular cardiac muscle cell action potential GO:0086005 9.48 RYR2 PKP2
12 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.46 RYR2 PKP2
13 desmosome assembly GO:0002159 9.43 PKP2 JUP
14 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.35 PKP2 JUP DSP DSG2 DSC2
15 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.1 RYR2 PKP2 JUP DSP DSG2 DSC2

Molecular functions related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase C binding GO:0005080 9.26 PKP2 DSP
2 alpha-catenin binding GO:0045294 9.16 PKP2 JUP
3 cell adhesion molecule binding GO:0050839 9.13 JUP DSP DSG2
4 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.02 PKP2 JUP DSP DSG2 DSC2

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 6

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....