ARVD3
MCID: ARR047
MIFTS: 32

Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 (ARVD3)

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

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 57 29 70
Arrhythmogenic Right Ventricular Dysplasia 3 57 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 3 57 12
Arvd3 57 12
Arvc3 57 12
Arrhythmogenic Right Ventricular Cardiomyopathy 3; Arvc3 57
Familial Arrhythmogenic Right Ventricular Dysplasia 3 12

Characteristics:

OMIM®:

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


HPO:

31
arrhythmogenic right ventricular dysplasia, familial, 3:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0110072
OMIM® 57 602086
OMIM Phenotypic Series 57 PS107970
ICD10 32 I42.8
MedGen 41 C1865882
SNOMED-CT via HPO 68 263681008 44103008
UMLS 70 C1865882

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22.

MalaCards based summary : Arrhythmogenic Right Ventricular Dysplasia, Familial, 3, also known as arrhythmogenic right ventricular dysplasia 3, is related to palmoplantar keratoderma and woolly hair and ectodermal dysplasia/skin fragility syndrome. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 is ARVD3 (Arrhythmogenic Right Ventricular Dysplasia 3), and among its related pathways/superpathways are Keratinization and Arrhythmogenic right ventricular cardiomyopathy. Affiliated tissues include heart and skin, and related phenotypes are ventricular arrhythmia and right ventricular cardiomyopathy

More information from OMIM: 602086 PS107970

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

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

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma and woolly hair 10.0 DSP DSC2
2 ectodermal dysplasia/skin fragility syndrome 10.0 DSP DSC2
3 ventricular fibrillation, paroxysmal familial, 1 10.0 RYR2 DSP
4 right bundle branch block 9.9 PKP2 DSG2
5 darier-white disease 9.9 DSP DSC2
6 lmna-related dilated cardiomyopathy 9.9 DSP DSC2
7 cardiomyopathy, dilated, 1h 9.9 DSP DSC2
8 long qt syndrome 2 9.9 RYR2 PKP2
9 cardiomyopathy, dilated, 1a 9.9 DSP DSC2
10 pemphigus vulgaris, familial 9.9 DSP DSG2
11 familial isolated arrhythmogenic right ventricular dysplasia 9.8 PKP2 DSP DSC2
12 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.8 RYR2 PKP2 DSP
13 cardiac arrhythmia 9.8 RYR2 PKP2 DSP
14 progressive familial heart block 9.8 RYR2 DSP
15 restrictive cardiomyopathy 9.7 PKP2 DSP DSG2
16 ritter's disease 9.7 DSP DSG2 DSC2
17 paraneoplastic pemphigus 9.7 DSP DSG2 DSC2
18 pemphigus 9.7 DSP DSG2 DSC2
19 cardiac conduction defect 9.7 RYR2 DSP DSG2
20 bullous skin disease 9.7 DSP DSG2 DSC2
21 familial atrial fibrillation 9.7 RYR2 PKP2 DSG2
22 hair disease 9.7 DSP DSC2
23 cardiac arrest 9.7 RYR2 DSP DSG2
24 palmoplantar keratosis 9.5 PKP2 DSP DSG2 DSC2
25 long qt syndrome 1 9.5 RYR2 PKP2 DSP DSG2
26 arrhythmogenic right ventricular dysplasia, familial, 13 9.4 TGFB3 RYR2 PKP2 DSP
27 left bundle branch hemiblock 9.2 RYR2 PKP2 DSP DSG2 DSC2
28 palmoplantar keratoderma, nonepidermolytic 9.2 RYR2 PKP2 DSP DSG2 DSC2
29 intrinsic cardiomyopathy 9.2 RYR2 PKP2 DSP DSG2 DSC2
30 catecholaminergic polymorphic ventricular tachycardia 9.2 RYR2 PKP2 DSP DSG2 DSC2
31 heart conduction disease 9.2 RYR2 PKP2 DSP DSG2 DSC2
32 atrial standstill 1 9.2 RYR2 PKP2 DSP DSG2 DSC2
33 long qt syndrome 9.2 RYR2 PKP2 DSP DSG2 DSC2
34 arrhythmogenic right ventricular dysplasia, familial, 12 9.0 TGFB3 RYR2 PKP2 DSG2 DSC2
35 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 8.8 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
36 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 8.8 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
37 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 8.8 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
38 arrhythmogenic right ventricular dysplasia, familial, 1 8.8 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
39 arrhythmogenic right ventricular dysplasia, familial, 11 8.8 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
40 arrhythmogenic right ventricular dysplasia, familial, 10 8.8 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
41 arrhythmogenic right ventricular dysplasia, familial, 9 8.8 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
42 arrhythmogenic right ventricular dysplasia, familial, 8 8.8 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
43 cardiomyopathy, dilated, with woolly hair and keratoderma 8.8 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
44 arrhythmogenic right ventricular dysplasia, familial, 6 8.8 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
45 arrhythmogenic right ventricular dysplasia, familial, 5 8.8 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
46 arrhythmogenic right ventricular dysplasia, familial, 4 8.8 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
47 arrhythmogenic right ventricular dysplasia, familial, 2 8.8 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
48 naxos disease 8.8 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
49 familial woolly hair syndrome 8.8 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
50 arrhythmogenic right ventricular cardiomyopathy 8.8 TGFB3 RYR2 PKP2 DSP DSG2 DSC2

Graphical network of the top 20 diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 3:



Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 3:

31
# Description HPO Frequency HPO Source Accession
1 ventricular arrhythmia 31 HP:0004308
2 right ventricular cardiomyopathy 31 HP:0011663
3 t-wave inversion in the right precordial leads 31 HP:0003140
4 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

Cardiac:
arrhythmogenic right ventricular cardiomyopathy
ventricular arrhythmias

Clinical features from OMIM®:

602086 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.5 DSC2 DSG2 DSP KLHDC2 PKP2 RYR2
2 vision/eye MP:0005391 9.02 DSC2 DSG2 DSP KLHDC2 TGFB3

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 3:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 29

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 3:

40
Heart, Skin

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Articles related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 3:

# Title Authors PMID Year
1
A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14. 57
8824801 1996
2
Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium. 61
28650483 2017

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3.

Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Pathways related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.71 PKP2 DSP DSG2 DSC2
2 11.21 RYR2 PKP2 DSP DSG2 DSC2
3 10.9 RYR2 DSP

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Cellular components related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.62 PKP2 DSP DSG2 DSC2
2 cell-cell junction GO:0005911 9.56 PKP2 DSP DSG2 DSC2
3 intercalated disc GO:0014704 9.46 PKP2 DSP DSG2 DSC2
4 cornified envelope GO:0001533 9.26 PKP2 DSP DSG2 DSC2
5 desmosome GO:0030057 8.92 PKP2 DSP DSG2 DSC2

Biological processes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.71 PKP2 DSP DSG2 DSC2
2 cell-cell adhesion GO:0098609 9.67 PKP2 DSP DSG2 DSC2
3 cornification GO:0070268 9.62 PKP2 DSP DSG2 DSC2
4 response to progesterone GO:0032570 9.48 TGFB3 DSG2
5 ventricular cardiac muscle cell action potential GO:0086005 9.46 RYR2 PKP2
6 regulation of heart rate by cardiac conduction GO:0086091 9.46 PKP2 DSP DSG2 DSC2
7 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.43 RYR2 PKP2
8 desmosome organization GO:0002934 9.43 PKP2 DSP DSG2
9 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.26 PKP2 DSP DSG2 DSC2
10 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.02 RYR2 PKP2 DSP DSG2 DSC2

Molecular functions related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion molecule binding GO:0050839 9.16 DSP DSG2
2 protein kinase C binding GO:0005080 8.96 PKP2 DSP
3 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.92 PKP2 DSP DSG2 DSC2

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

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....