MCID: ARR030
MIFTS: 10

Arrhythmogenic Right Ventricular Dysplasia 2 malady

Genetic diseases (common) category

Summaries for Arrhythmogenic Right Ventricular Dysplasia 2

About this section


MalaCards based summary: Arrhythmogenic Right Ventricular Dysplasia 2 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:46 600996

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia 2

About this section

Arrhythmogenic Right Ventricular Dysplasia 2, Aliases & Descriptions:

Name: Arrhythmogenic Right Ventricular Dysplasia 2 46 61


Classifications:

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


Related Diseases for Arrhythmogenic Right Ventricular Dysplasia 2

About this section

Symptoms for Arrhythmogenic Right Ventricular Dysplasia 2

About this section

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

About this section

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

About this section

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia 2

About this section

Animal Models for Arrhythmogenic Right Ventricular Dysplasia 2 or affiliated genes

About this section

Publications for Arrhythmogenic Right Ventricular Dysplasia 2

About this section

Variations for Arrhythmogenic Right Ventricular Dysplasia 2

About this section

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

63
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 Name 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

About this section
Expression patterns in normal tissues for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 2

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

Pathways for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 2

About this section

Compounds for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 2

About this section

GO Terms for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 2

About this section

Products for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 2

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Arrhythmogenic Right Ventricular Dysplasia 2

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet