ARVD4
MCID: ARR048
MIFTS: 34

Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 (ARVD4)

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

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 57 29 70
Arrhythmogenic Right Ventricular Dysplasia 4 57 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 4 57 12
Arvd4 57 12
Arvc4 57 12
Arrhythmogenic Right Ventricular Cardiomyopathy 4; Arvc4 57
Fanilial Arrhythmogenic Right Ventricular Dysplasia 4 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant
heterogeneity


HPO:

31
arrhythmogenic right ventricular dysplasia, familial, 4:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0110073
OMIM® 57 602087
OMIM Phenotypic Series 57 PS107970
ICD10 32 I42.8
MedGen 41 C1865881
SNOMED-CT via HPO 68 263681008 26636000 44103008
UMLS 70 C1865881

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3.

MalaCards based summary : Arrhythmogenic Right Ventricular Dysplasia, Familial, 4, also known as arrhythmogenic right ventricular dysplasia 4, is related to cardiac conduction defect and arrhythmogenic right ventricular dysplasia, familial, 2. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 is ARVD4 (Arrhythmogenic Right Ventricular Dysplasia 4), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include heart and skin, and related phenotypes are ventricular arrhythmia and sudden death

More information from OMIM: 602087 PS107970

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

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, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 cardiac conduction defect 29.6 RYR2 DSP DSG2
2 arrhythmogenic right ventricular dysplasia, familial, 2 27.9 TMEM43 TGFB3 RYR2 PKP2 DSP DSG2
3 arrhythmogenic right ventricular dysplasia, familial, 9 27.9 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
4 atrial standstill 1 27.8 TMEM43 RYR2 PKP2 JUP DSP DSG2
5 arrhythmogenic right ventricular cardiomyopathy 27.5 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
6 right bundle branch block 10.0 PKP2 DSG2
7 left ventricular noncompaction 1 10.0 PKP2 JUP
8 long qt syndrome 2 9.8 RYR2 PKP2
9 grover's disease 9.8 JUP DSP
10 epidermolysis bullosa, lethal acantholytic 9.8 JUP DSP
11 diffuse palmoplantar keratoderma 9.8 JUP DSP
12 lmna-related dilated cardiomyopathy 9.8 DSP DSC2
13 familial atrial fibrillation 9.7 RYR2 PKP2 DSG2
14 benign chronic pemphigus 9.7 JUP DSP
15 ritter's disease 9.7 DSP DSG2 DSC2
16 paraneoplastic pemphigus 9.7 DSP DSG2 DSC2
17 ventricular fibrillation, paroxysmal familial, 1 9.7 RYR2 DSP
18 bullous skin disease 9.7 DSP DSG2 DSC2
19 palmoplantar keratoderma and woolly hair 9.6 JUP DSP DSC2
20 restrictive cardiomyopathy 9.6 PKP2 DSP DSG2
21 ectodermal dysplasia/skin fragility syndrome 9.6 JUP DSP DSC2
22 darier-white disease 9.6 JUP DSP DSC2
23 cardiomyopathy, dilated, 1h 9.6 TMEM43 DSP DSC2
24 cardiomyopathy, dilated, 1a 9.6 TMEM43 DSP DSC2
25 pemphigus vulgaris, familial 9.6 JUP DSP DSG2
26 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.6 RYR2 PKP2 DSP
27 hair disease 9.6 DSP DSC2
28 progressive familial heart block 9.5 RYR2 DSP
29 cardiac arrest 9.5 RYR2 DSP DSG2
30 familial isolated arrhythmogenic right ventricular dysplasia 9.5 TMEM43 PKP2 DSP DSC2
31 pemphigus 9.4 JUP DSP DSG2 DSC2
32 arrhythmogenic right ventricular dysplasia, familial, 13 9.4 TGFB3 RYR2 PKP2 DSP
33 long qt syndrome 1 9.4 RYR2 PKP2 DSP DSG2
34 cardiac arrhythmia 9.3 RYR2 PKP2 JUP DSP
35 palmoplantar keratosis 9.2 PKP2 JUP DSP DSG2 DSC2
36 arrhythmogenic right ventricular dysplasia, familial, 3 9.0 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
37 arrhythmogenic right ventricular dysplasia, familial, 1 9.0 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
38 left bundle branch hemiblock 8.9 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
39 intrinsic cardiomyopathy 8.9 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
40 catecholaminergic polymorphic ventricular tachycardia 8.9 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
41 heart conduction disease 8.9 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
42 long qt syndrome 8.9 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
43 arrhythmogenic right ventricular dysplasia, familial, 12 8.9 TMEM43 TGFB3 RYR2 PKP2 JUP DSG2
44 palmoplantar keratoderma, nonepidermolytic 8.7 TMEM43 RYR2 PKP2 JUP DSP DSG2
45 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 8.4 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
46 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 8.4 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
47 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 8.4 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
48 familial woolly hair syndrome 8.4 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
49 arrhythmogenic right ventricular dysplasia, familial, 11 8.4 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
50 arrhythmogenic right ventricular dysplasia, familial, 10 8.4 TMEM43 TGFB3 RYR2 PKP2 JUP DSP

Graphical network of the top 20 diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 4:



Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 4:

31
# Description HPO Frequency HPO Source Accession
1 ventricular arrhythmia 31 HP:0004308
2 sudden death 31 HP:0001699
3 right ventricular cardiomyopathy 31 HP:0011663
4 t-wave inversion in the right precordial leads 31 HP:0003140
5 focal necrosis of right ventricular muscle cells 31 HP:0003338

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Lab:
focal necrosis of right ventricular muscle cells
t-wave inversion in the right precordial leads and late potentials in signal-averaging ecg
localized left ventricular involvement with left bundle branch block

Misc:
sudden death in juveniles and athletes

Cardiac:
arrhythmogenic right ventricular cardiomyopathy
ventricular arrhythmias

Clinical features from OMIM®:

602087 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 4:

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, 4

Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 4:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 29

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 4:

40
Heart, Skin

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

Articles related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 4:

# Title Authors PMID Year
1
ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm. 57
9344647 1997
2
Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology. 57
8142187 1994
3
Treatment of presumed arrhythmogenic right ventricular dysplasia in an adolescent. 57
8325094 1993
4
[Heart rate turbulence in patients with ventricular tachy arrhythmias of noncoronary genesis]. 61
15940187 2005
5
[Efficacy of the combination of low doses of beta-blockers and amiodarone in the treatment of refractory ventricular tachycardia]. 61
2573326 1989

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4.

Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

Pathways related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 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, 4

Cellular components related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.77 PKP2 JUP DSP DSG2 DSC2
2 cell-cell junction GO:0005911 9.65 PKP2 JUP DSP DSG2 DSC2
3 intermediate filament GO:0005882 9.61 PKP2 JUP DSP
4 adherens junction GO:0005912 9.58 PKP2 JUP DSC2
5 intercalated disc GO:0014704 9.55 PKP2 JUP DSP DSG2 DSC2
6 lateral plasma membrane GO:0016328 9.46 JUP DSG2
7 cornified envelope GO:0001533 9.35 PKP2 JUP DSP DSG2 DSC2
8 fascia adherens GO:0005916 9.32 JUP DSP
9 desmosome GO:0030057 9.02 PKP2 JUP DSP DSG2 DSC2

Biological processes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 according to GeneCards Suite gene sharing:

(show all 14)
# 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 regulation of heart rate by cardiac conduction GO:0086091 9.55 PKP2 JUP DSP DSG2 DSC2
6 skin development GO:0043588 9.54 JUP DSP
7 adherens junction organization GO:0034332 9.52 JUP DSP
8 response to progesterone GO:0032570 9.51 TGFB3 DSG2
9 desmosome organization GO:0002934 9.5 PKP2 DSP DSG2
10 ventricular cardiac muscle cell action potential GO:0086005 9.48 RYR2 PKP2
11 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.46 RYR2 PKP2
12 desmosome assembly GO:0002159 9.43 PKP2 JUP
13 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.35 PKP2 JUP DSP DSG2 DSC2
14 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, 4 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, 4

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
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