MCID: ARR046
MIFTS: 35

Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 57 75 29 6 73
Arrhythmogenic Right Ventricular Dysplasia 2 57 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 2 57 12 75
Arvd2 57 12 75
Arvc2 57 12 75
Arrhythmogenic Right Ventricular Cardiomyopathy 2; Arvc2 57
Dysplasia, Arrhythmogenic Right Ventricular, Type 2 ) 40
Familial Arrhythmogenic Right Ventricular Dysplasia 2 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
heterogeneity.


HPO:

32
arrhythmogenic right ventricular dysplasia, familial, 2:
Inheritance autosomal dominant inheritance
Mortality/Aging sudden death


Classifications:



External Ids:

OMIM 57 600996
Disease Ontology 12 DOID:0110071
ICD10 33 I42.8
MedGen 42 C1832931
MeSH 44 D019571
UMLS 73 C1832931

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

UniProtKB/Swiss-Prot : 75 Arrhythmogenic right ventricular dysplasia, familial, 2: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.

MalaCards based summary : Arrhythmogenic Right Ventricular Dysplasia, Familial, 2, also known as arrhythmogenic right ventricular dysplasia 2, is related to arrhythmogenic right ventricular cardiomyopathy and central core disease of muscle. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 is RYR2 (Ryanodine Receptor 2), and among its related pathways/superpathways are Circadian entrainment and Cardiac conduction. Affiliated tissues include heart, and related phenotypes are ventricular arrhythmia and effort-induced polymorphic ventricular tachycardias

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the cardiac ryanodine receptor-2 gene (RYR2) on chromosome 1q43.

Description from OMIM: 600996

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 arrhythmogenic right ventricular cardiomyopathy 29.4 JUP RYR1 RYR2
2 central core disease of muscle 10.1 RYR1 RYR2
3 muscle disorders 10.1 RYR1 RYR2
4 cardiac conduction defect 10.1 RYR1 RYR2
5 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.1 CASQ2 RYR2
6 long qt syndrome 5 10.1 CASQ2 RYR2
7 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 JUP RYR2
8 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.0 JUP RYR2
9 long qt syndrome 6 10.0 CASQ2 RYR2
10 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.0 JUP RYR2
11 arrhythmogenic right ventricular dysplasia, familial, 9 10.0 JUP RYR2
12 arrhythmogenic right ventricular dysplasia, familial, 8 10.0 JUP RYR2
13 heart conduction disease 10.0 CASQ2 RYR2
14 arrhythmogenic right ventricular dysplasia, familial, 1 9.9 JUP RYR2
15 cardiac arrhythmia 9.9 JUP RYR2
16 malignant hyperthermia 9.9 RYR1 RYR2
17 intrinsic cardiomyopathy 9.8 JUP RYR2
18 cardiac arrest 9.8 CASQ2 RYR2
19 long qt syndrome 1 9.7 CASQ2 RYR2
20 catecholaminergic polymorphic ventricular tachycardia 9.6 CASQ2 RYR1 RYR2
21 left ventricular noncompaction 9.3 JUP RYR2
22 central core myopathy 9.2 RYR1 RYR2 RYR3

Graphical network of the top 20 diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:



Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
arrhythmogenic right ventricular cardiomyopathy. cardiac electrical instability. ventricular arrhythmias. ventricular aneurysms. effort-induced polymorphic ventricular tachycardias.

Lab:
fibro-fatty replacement of right ventricular myocardium.

Misc:
juvenile sudden death.


Clinical features from OMIM:

600996

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:

32
# Description HPO Frequency HPO Source Accession
1 ventricular arrhythmia 32 HP:0004308
2 effort-induced polymorphic ventricular tachycardias 32 HP:0004758
3 dilatation of the ventricular cavity 32 HP:0006698
4 right ventricular cardiomyopathy 32 HP:0011663

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 CASQ2 JUP RYR1 RYR2 RYR3

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 29 RYR2

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:

41
Heart

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

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

75
# Symbol AA change Variation ID SNP ID
1 RYR2 p.Leu433Pro VAR_011395 rs121918602
2 RYR2 p.Asn2386Ile VAR_011398 rs121918601
3 RYR2 p.Arg176Gln VAR_044087 rs794728708
4 RYR2 p.Thr2504Met VAR_044096 rs769219555

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:

6
(show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 RYR2 NM_001035.2(RYR2): c.7157A> T (p.Asn2386Ile) single nucleotide variant Pathogenic rs121918601 GRCh37 Chromosome 1, 237804238: 237804238
2 RYR2 NM_001035.2(RYR2): c.7157A> T (p.Asn2386Ile) single nucleotide variant Pathogenic rs121918601 GRCh38 Chromosome 1, 237640938: 237640938
3 RYR2 NM_001035.2(RYR2): c.1298T> C (p.Leu433Pro) single nucleotide variant Pathogenic rs121918602 GRCh37 Chromosome 1, 237617696: 237617696
4 RYR2 NM_001035.2(RYR2): c.1298T> C (p.Leu433Pro) single nucleotide variant Pathogenic rs121918602 GRCh38 Chromosome 1, 237454396: 237454396
5 RYR2 NM_001035.2(RYR2): c.649A> G (p.Ile217Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200642525 GRCh37 Chromosome 1, 237550653: 237550653
6 RYR2 NM_001035.2(RYR2): c.649A> G (p.Ile217Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200642525 GRCh38 Chromosome 1, 237387353: 237387353
7 RYR2 NM_001035.2(RYR2): c.2755G> A (p.Val919Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201079716 GRCh37 Chromosome 1, 237675024: 237675024
8 RYR2 NM_001035.2(RYR2): c.2755G> A (p.Val919Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201079716 GRCh38 Chromosome 1, 237511724: 237511724
9 RYR2 NM_001035.2(RYR2): c.4465T> C (p.Cys1489Arg) single nucleotide variant Uncertain significance rs200450676 GRCh37 Chromosome 1, 237758826: 237758826
10 RYR2 NM_001035.2(RYR2): c.4465T> C (p.Cys1489Arg) single nucleotide variant Uncertain significance rs200450676 GRCh38 Chromosome 1, 237595526: 237595526
11 RYR2 NM_001035.2(RYR2): c.13291G> A (p.Glu4431Lys) single nucleotide variant Uncertain significance rs571985775 GRCh37 Chromosome 1, 237949299: 237949299
12 RYR2 NM_001035.2(RYR2): c.13291G> A (p.Glu4431Lys) single nucleotide variant Uncertain significance rs571985775 GRCh38 Chromosome 1, 237785999: 237785999
13 RYR2 NM_001035.2(RYR2): c.1822C> T (p.His608Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs727504718 GRCh37 Chromosome 1, 237655219: 237655219
14 RYR2 NM_001035.2(RYR2): c.1822C> T (p.His608Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs727504718 GRCh38 Chromosome 1, 237491919: 237491919
15 RYR2 NM_001035.2(RYR2): c.239A> G (p.Glu80Gly) single nucleotide variant Uncertain significance rs794728706 GRCh37 Chromosome 1, 237494248: 237494248
16 RYR2 NM_001035.2(RYR2): c.239A> G (p.Glu80Gly) single nucleotide variant Uncertain significance rs794728706 GRCh38 Chromosome 1, 237330948: 237330948
17 RYR2 NM_001035.2(RYR2): c.1258C> T (p.Arg420Trp) single nucleotide variant Pathogenic rs190140598 GRCh38 Chromosome 1, 237445488: 237445488
18 RYR2 NM_001035.2(RYR2): c.1258C> T (p.Arg420Trp) single nucleotide variant Pathogenic rs190140598 GRCh37 Chromosome 1, 237608788: 237608788
19 RYR2 NM_001035.2(RYR2): c.4094C> T (p.Ala1365Val) single nucleotide variant Conflicting interpretations of pathogenicity rs373261115 GRCh37 Chromosome 1, 237754226: 237754226
20 RYR2 NM_001035.2(RYR2): c.4094C> T (p.Ala1365Val) single nucleotide variant Conflicting interpretations of pathogenicity rs373261115 GRCh38 Chromosome 1, 237590926: 237590926
21 RYR2 NM_001035.2(RYR2): c.2306G> T (p.Arg769Leu) single nucleotide variant Uncertain significance rs754901791 GRCh38 Chromosome 1, 237500813: 237500813
22 RYR2 NM_001035.2(RYR2): c.2306G> T (p.Arg769Leu) single nucleotide variant Uncertain significance rs754901791 GRCh37 Chromosome 1, 237664113: 237664113
23 RYR2 NM_001035.2(RYR2): c.724G> A (p.Asp242Asn) single nucleotide variant Uncertain significance rs1060499569 GRCh37 Chromosome 1, 237551434: 237551434
24 RYR2 NM_001035.2(RYR2): c.724G> A (p.Asp242Asn) single nucleotide variant Uncertain significance rs1060499569 GRCh38 Chromosome 1, 237388134: 237388134
25 RYR2 NM_001035.2(RYR2): c.13412G> C (p.Gly4471Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 237951371: 237951371
26 RYR2 NM_001035.2(RYR2): c.13412G> C (p.Gly4471Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 237788071: 237788071

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

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

Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Pathways related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.57 RYR1 RYR2 RYR3
2
Show member pathways
12.41 RYR1 RYR2 RYR3
3
Show member pathways
12.37 RYR1 RYR2 RYR3
4
Show member pathways
12.29 RYR1 RYR2 RYR3
5
Show member pathways
12.13 RYR1 RYR2 RYR3
6
Show member pathways
12.07 RYR1 RYR2 RYR3
7
Show member pathways
12.05 CASQ2 RYR1 RYR2 RYR3
8
Show member pathways
11.85 RYR1 RYR2 RYR3
9 11.7 RYR1 RYR2 RYR3
10 11.63 RYR1 RYR2 RYR3
11 11.08 CASQ2 JUP RYR2
12 10.82 RYR1 RYR2 RYR3
13 9.91 RYR1 RYR2 RYR3

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Cellular components related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle membrane GO:0030659 9.65 RYR1 RYR2 RYR3
2 sarcolemma GO:0042383 9.61 RYR1 RYR2 RYR3
3 cell GO:0005623 9.58 RYR1 RYR2 RYR3
4 sarcoplasmic reticulum GO:0016529 9.56 CASQ2 RYR1 RYR2 RYR3
5 smooth endoplasmic reticulum GO:0005790 9.54 RYR1 RYR2 RYR3
6 junctional sarcoplasmic reticulum membrane GO:0014701 9.5 CASQ2 RYR1 RYR2
7 junctional membrane complex GO:0030314 9.46 CASQ2 RYR1
8 sarcoplasmic reticulum membrane GO:0033017 9.46 CASQ2 RYR1 RYR2 RYR3
9 calcium channel complex GO:0034704 9.26 CASQ2 RYR1 RYR2 RYR3
10 Z disc GO:0030018 9.02 CASQ2 JUP RYR1 RYR2 RYR3

Biological processes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.77 RYR1 RYR2 RYR3
2 transmembrane transport GO:0055085 9.77 RYR1 RYR2 RYR3
3 calcium ion transport GO:0006816 9.67 RYR1 RYR2 RYR3
4 calcium ion transmembrane transport GO:0070588 9.63 RYR1 RYR2 RYR3
5 ion transmembrane transport GO:0034220 9.62 CASQ2 RYR1 RYR2 RYR3
6 protein homotetramerization GO:0051289 9.58 RYR1 RYR3
7 cellular response to calcium ion GO:0071277 9.58 RYR1 RYR3
8 cardiac muscle contraction GO:0060048 9.57 CASQ2 RYR2
9 skin development GO:0043588 9.56 JUP RYR1
10 regulation of cytosolic calcium ion concentration GO:0051480 9.55 RYR1 RYR2
11 regulation of heart rate GO:0002027 9.54 CASQ2 RYR2
12 cellular calcium ion homeostasis GO:0006874 9.54 RYR1 RYR2 RYR3
13 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.52 CASQ2 RYR2
14 detection of calcium ion GO:0005513 9.51 CASQ2 RYR2
15 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.48 JUP RYR2
16 response to caffeine GO:0031000 9.43 RYR1 RYR2
17 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.4 RYR1 RYR2
18 release of sequestered calcium ion into cytosol GO:0051209 9.33 RYR1 RYR2 RYR3
19 Purkinje myocyte to ventricular cardiac muscle cell signaling GO:0086029 9.26 CASQ2 RYR2
20 regulation of cardiac conduction GO:1903779 9.26 CASQ2 RYR1 RYR2 RYR3
21 cellular response to caffeine GO:0071313 8.92 CASQ2 RYR1 RYR2 RYR3

Molecular functions related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.62 CASQ2 RYR1 RYR2 RYR3
2 calmodulin binding GO:0005516 9.54 RYR1 RYR2 RYR3
3 calcium channel activity GO:0005262 9.43 RYR1 RYR2 RYR3
4 ion channel activity GO:0005216 9.4 RYR1 RYR2
5 calcium-release channel activity GO:0015278 9.33 RYR1 RYR2 RYR3
6 ryanodine-sensitive calcium-release channel activity GO:0005219 9.13 RYR1 RYR2 RYR3
7 calcium-induced calcium release activity GO:0048763 8.8 RYR1 RYR2 RYR3

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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