MCID: ARR030
MIFTS: 22

Arrhythmogenic Right Ventricular Dysplasia 2 malady

Genetic diseases (common), Cardiovascular diseases categories

Summaries for Arrhythmogenic Right Ventricular Dysplasia 2

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MalaCards based summary: Arrhythmogenic Right Ventricular Dysplasia 2, also known as arrhythmogenic right ventricular dysplasia, familial, 2, is related to arrhythmogenic right ventricular cardiomyopathy, and has symptoms including ventricular arrhythmia, effort-induced polymorphic ventricular tachycardias and ventricular aneurysm. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia 2 is RYR2 (ryanodine receptor 2 (cardiac)).

Description from OMIM:47 600996

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia 2

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Arrhythmogenic Right Ventricular Dysplasia 2, Aliases & Descriptions:

Name: Arrhythmogenic Right Ventricular Dysplasia 2 47 11 62
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 47
 
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 2 24


Classifications:

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


External Ids:

OMIM47 600996

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia 2

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Diseases related to Arrhythmogenic Right Ventricular Dysplasia 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1arrhythmogenic right ventricular cardiomyopathy10.5

Symptoms for Arrhythmogenic Right Ventricular Dysplasia 2

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Symptoms by clinical synopsis from OMIM:

600996

Clinical features from OMIM:

600996

HPO human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia 2:

id Description Frequency HPO Source Accession
1 ventricular arrhythmia HP:0004308
2 effort-induced polymorphic ventricular tachycardias HP:0004758
3 ventricular aneurysm HP:0006698
4 right ventricular cardiomyopathy HP:0011663

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia 2

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Drug clinical trials:

Search ClinicalTrials for Arrhythmogenic Right Ventricular Dysplasia 2

Search NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia 2

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia 2

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Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia 2:

id Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Cardiomyopathy, Type 224

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia 2

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Animal Models for Arrhythmogenic Right Ventricular Dysplasia 2 or affiliated genes

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Publications for Arrhythmogenic Right Ventricular Dysplasia 2

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Variations for Arrhythmogenic Right Ventricular Dysplasia 2

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UniProtKB/Swiss-Prot genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia 2:

64
id Symbol AA change Variation ID SNP ID
1RYR2p.Leu433ProVAR_011395
2RYR2p.Asn2386IleVAR_011398
3RYR2p.Arg176GlnVAR_044087
4RYR2p.Thr2504MetVAR_044096

Clinvar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia 2:

7
id Gene Variation Type Significance SNP ID Assembly Location
1RYR2NM_001035.2(RYR2): c.7157A> T (p.Asn2386Ile)single nucleotide variantPathogenicrs121918601GRCh37Chr 1, 237804238: 237804238
2RYR2NM_001035.2(RYR2): c.1298T> C (p.Leu433Pro)single nucleotide variantPathogenicrs121918602GRCh37Chr 1, 237617696: 237617696

Expression for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 2

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Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia 2.

Pathways for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 2

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Compounds for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 2

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GO Terms for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 2

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Products for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Arrhythmogenic Right Ventricular Dysplasia 2

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet