ARVC
MCID: ARR001
MIFTS: 43

Arrhythmogenic Right Ventricular Dysplasia (ARVC) malady

Cardiovascular, Genetic categories

Summaries for Arrhythmogenic Right Ventricular Dysplasia

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Arrhythmogenic right ventricular dysplasia (arvd) is an inherited heart condition in which the muscle of the right ventricle of the heart is replaced by fat and/or scar tissue. the condition is progressive and over time the right ventricle loses the ability to pump blood. individuals with arvd often develop abnormal heart rhythms known as arrhythmias, which can increase the risk of sudden cardiac arrest or death. other symptoms of arvd include chest palpitations, dizziness, fainting and shortness of breath. often, sudden cardiac death can be the first sign of arvd. arvd is caused by genetic mutations in genes that instruct proteins to link one heart cell to the next. there is also some evidence that arvd could be caused by an infection of the heart muscle. treatment options can vary by patient and may include anti-arrhythmogenic medication, implantable cardioverter defibrillators and catheter ablation. last updated: 1/30/2013

MalaCards: Arrhythmogenic Right Ventricular Dysplasia, also known as arrhythmogenic right ventricular cardiomyopathy, is related to naxos disease and keratoderma. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia is RYR2 (ryanodine receptor 2 (cardiac)), and among its related pathways are Apoptotic cleavage of cell adhesion proteins and Antiarrhythmic Pathway, Pharmacodynamics. The compounds 4-chloro-m-cresol and cyclic adp-ribose have been mentioned in the context of this disorder. Affiliated tissues include heart, and related mouse phenotype mortality/aging.

Genetics Home Reference:21 Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death.

Wikipedia:64 Arrhythmogenic right ventricular dysplasia (ARVD), also called arrhythmogenic right ventricular... more...

Description from OMIM:47 607450, 609040, 107970, 600996, 610193 611528, 610476, 604400 more

GeneReviews summary for arvd

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 22GTR, 20GeneTests, 47OMIM, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Cardiovascular


Characteristics (Orphanet epidemiological data):

49
arrhythmogenic right ventricular dysplasia:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Adulthood


Aliases & Descriptions:

arrhythmogenic right ventricular dysplasia 8 19 43 21 10 45 49 61
arrhythmogenic right ventricular cardiomyopathy 19 43 22 21 49
arvd 8 19 43 21 49
arrhythmogenic right ventricular dysplasia/cardiomyopathy 8 19 20 21
arvc 19 43 21 49
arrhythmogenic right ventricular cardiomyopathy 1 8 22
arrhythmogenic right ventricular cardiomyopathy-dysplasia 21
arrhythmogenic right ventricular dysplasia, familial, 1 61
ventricular dysplasia, right, arrhythmogenic 21
right ventricular dysplasia, arrhythmogenic 21
arvd/c 21


External Ids:

Disease Ontology8 DOID:0050431
MeSH35 D019571
MESH via Orphanet36 D019571
ICD10 via Orphanet26 I42.8
SNOMED-CT via Orphanet58 253528005, 281170005
UMLS via Orphanet62 C0349788

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Arrhythmogenic Right Ventricular Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 78)
idRelated DiseaseScoreTop Affiliating Genes
1naxos disease31.2JUP, PKP2, DSP
2keratoderma31.0DSP
3arrhythmogenic right ventricular dysplasia 130.9TGFB3
4arrhythmogenic right ventricular dysplasia/cardiomyopathy 530.8TMEM43, ARVD5
5arrhythmogenic right ventricular dysplasia 530.7RPSA
6cardiac sarcoidosis10.6
7myofibrillar myopathy10.6
8uhl anomaly10.5
9arrhythmogenic right ventricular dysplasia/cardiomyopathy 210.5
10arrhythmogenic right ventricular dysplasia/cardiomyopathy 110.5
11arrhythmogenic right ventricular dysplasia/cardiomyopathy 310.5
12arrhythmogenic right ventricular dysplasia/cardiomyopathy 410.5
13arrhythmogenic right ventricular dysplasia/cardiomyopathy 610.5
14arrhythmogenic right ventricular dysplasia/cardiomyopathy 710.5
15arrhythmogenic right ventricular dysplasia/cardiomyopathy 810.5
16arrhythmogenic right ventricular dysplasia/cardiomyopathy 910.5
17syncope10.5
18arrhythmogenic right ventricular dysplasia 1210.5
19brugada syndrome10.5
20arts syndrome10.5
21hypertrophic cardiomyopathy10.5
22familial ventricular tachycardia10.5
23arrhythmogenic right ventricular dysplasia 210.5
24arrhythmogenic right ventricular dysplasia 410.5
25arrhythmogenic right ventricular dysplasia 810.5
26arrhythmogenic right ventricular dysplasia 610.5
27arrhythmogenic right ventricular dysplasia 910.5
28arrhythmogenic right ventricular dysplasia 310.5
29arrhythmogenic right ventricular dysplasia 1110.5
30arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair10.5
31arrhythmogenic right ventricular dysplasia 1010.5
32mitral valve prolapse10.3
33nonepidermolytic palmoplantar keratoderma10.3
34mixed ductal-endocrine carcinoma10.3
35autosomal recessive disease10.3
36kocher-debre-semelaigne syndrome10.3
37ectodermal dysplasia10.3
38autonomic dysfunction10.3
39myopathy, myofibrillar, 110.3
40atrioventricular block10.3
41pulmonary systemic sclerosis10.3
42wolff-parkinson-white syndrome10.3
43patent foramen ovale10.3
44protein-losing enteropathy10.3
45peripartum cardiomyopathy10.3
46sick sinus syndrome10.3
47n syndrome10.3
48constrictive pericarditis10.3
49acute myocardial infarction10.3
50arthritis10.3

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



Diseases related to arrhythmogenic right ventricular dysplasia

Clinical Features for Arrhythmogenic Right Ventricular Dysplasia

Sources:
47OMIM
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Clinical features from OMIM:

607450,609040,107970,600996,610193,611528,610476,604400

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia

Search CenterWatch for Arrhythmogenic Right Ventricular Dysplasia

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia

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20GeneTests, 22GTR
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Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia:

id Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy Multi-gene Panels20
2 Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy20 TMEM43
3 Arrhythmogenic Right Ventricular Cardiomyopathy22
4 Arrhythmogenic Right Ventricular Cardiomyopathy, Type 122

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia

Sources:
33MalaCards
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MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia:

33
Heart

Animal Models for Arrhythmogenic Right Ventricular Dysplasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.8TGFB3, JUP, SCN5A, PKP2, DSP, DSC3

Publications for Arrhythmogenic Right Ventricular Dysplasia

Genetic Variations for Arrhythmogenic Right Ventricular Dysplasia

Expression for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia

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

Pathways for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia

Sources:
54Reactome, 50PharmGKB, 30KEGG, 38NCBI BioSystems Database
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Pathways related to Arrhythmogenic Right Ventricular Dysplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2DSG2, DSP
29.8RYR2, DSP, SCN5A, JUP
3
Hide members
9.4TGFB3, JUP, PKP2, DSP, DSC2, DSG2

Compounds for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 60Tocris Bioscience, 50PharmGKB, 24HMDB
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Compounds related to Arrhythmogenic Right Ventricular Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
14-chloro-m-cresol4510.3RYR1, RYR2
2cyclic adp-ribose4510.3RYR2, RYR1
3procaine45 29 1112.3RYR1, RYR2
4ruthenium red2910.2RYR2, RYR1
5dantrolene45 29 1112.2RYR2, RYR1
6mg2+2910.1RYR1, RYR2
7ryanodine45 29 6012.0RYR1, RYR2, DSP, JUP
8ruthenium459.9RYR1, RYR2
9calcium45 50 11 2412.2SCN5A, DSP, DSC2, DSC3, DSG2, RYR2

GO Terms for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia

Sources:
16Gene Ontology
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Cellular components related to Arrhythmogenic Right Ventricular Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00588210.0DSP, PKP2, JUP
2intercalated discGO:0147049.9JUP, SCN5A, PKP2, DSP
3T-tubuleGO:0303159.9TGFB3, RYR1, SCN5A
4junctional sarcoplasmic reticulum membraneGO:0147019.9RYR2, RYR1
5cell-cell junctionGO:0059119.8JUP, PKP2, DSC3, DSG2
6desmosomeGO:0300579.7DSG2, DSC3, DSC2, DSP, PKP2, JUP
7plasma membraneGO:0058868.5RPSA, JUP, MRGPRE, SCN5A, PKP2, DSP

Biological processes related to Arrhythmogenic Right Ventricular Dysplasia according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1cell communication by electrical coupling involved in cardiac conductionGO:08606410.4PKP2, RYR2
2desmosome assemblyGO:00215910.4PKP2, JUP
3release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:01480810.4RYR1, RYR2
4cellular response to caffeineGO:07131310.4RYR2, RYR1
5response to caffeineGO:03100010.4RYR1, RYR2
6regulation of cardiac muscle cell action potential involved in contractionGO:08600210.3PKP2, SCN5A
7cytosolic calcium ion homeostasisGO:05148010.3RYR1, RYR2
8positive regulation of sodium ion transportGO:01076510.2SCN5A, PKP2
9release of sequestered calcium ion into cytosolGO:05120910.2RYR1, RYR2
10cell-cell adhesionGO:01633710.1JUP, PKP2, DSP
11homophilic cell adhesionGO:00715610.0DSG2, DSC3, DSC2
12response to hypoxiaGO:0016669.9RYR2, RYR1, TGFB3
13regulation of heart rateGO:0020279.9RYR2, SCN5A
14bundle of His cell to Purkinje myocyte communicationGO:0860699.8JUP, SCN5A, PKP2, DSP, DSC2, DSG2
15regulation of heart rate by cardiac conductionGO:0860919.8JUP, SCN5A, PKP2, DSP, DSC2, DSG2
16regulation of ventricular cardiac muscle cell action potentialGO:0860059.7RYR2, JUP, SCN5A, PKP2, DSP, DSC2

Molecular functions related to Arrhythmogenic Right Ventricular Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ryanodine-sensitive calcium-release channel activityGO:00521910.2RYR1, RYR2
2calcium-release channel activityGO:01527810.2RYR1, RYR2
3scaffold protein bindingGO:09711010.1DSP, SCN5A
4ion channel bindingGO:0443259.9RYR2, PKP2, SCN5A
5calcium ion bindingGO:0055099.4DSC2, DSC3, DSG2, RYR2, RYR1

Products for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia

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Sources for Arrhythmogenic Right Ventricular Dysplasia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet