ARVD2
MCID: ARR046
MIFTS: 37

Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 (ARVD2)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases, Skin 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:
Mortality/Aging sudden death
Inheritance autosomal dominant inheritance


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 Activation of cAMP-Dependent PKA and CREB Pathway. Affiliated tissues include heart and skin, and related phenotypes are ventricular arrhythmia and dilatation of the ventricular cavity

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 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

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

(show all 17)
# Related Disease Score Top Affiliating Genes
1 arrhythmogenic right ventricular cardiomyopathy 29.6 JUP RYR1 RYR2 TGFB3
2 central core disease of muscle 10.0 RYR1 RYR2
3 muscle disorders 10.0 RYR1 RYR2
4 cardiac conduction defect 10.0 RYR1 RYR2
5 malignant hyperthermia 9.9 RYR1 RYR2
6 cardiac arrhythmia 9.8 JUP RYR2
7 central core myopathy 9.8 RYR1 RYR2 RYR3
8 intrinsic cardiomyopathy 9.8 JUP RYR2
9 catecholaminergic polymorphic ventricular tachycardia 9.8 RYR1 RYR2
10 cardiomyopathy, dilated, with woolly hair and keratoderma 9.8 JUP TGFB3
11 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.7 JUP RYR2 TGFB3
12 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.7 JUP RYR2 TGFB3
13 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.7 JUP RYR2 TGFB3
14 arrhythmogenic right ventricular dysplasia, familial, 1 9.7 JUP RYR2 TGFB3
15 arrhythmogenic right ventricular dysplasia, familial, 9 9.7 JUP RYR2 TGFB3
16 arrhythmogenic right ventricular dysplasia, familial, 8 9.7 JUP RYR2 TGFB3
17 left ventricular noncompaction 9.7 JUP RYR2 TGFB3

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 dilatation of the ventricular cavity 32 HP:0006698
3 right ventricular cardiomyopathy 32 HP:0011663
4 effort-induced polymorphic ventricular tachycardias 32 HP:0004758

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.35 JUP RYR1 RYR2 RYR3 TGFB3
2 muscle MP:0005369 8.92 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, Skin

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 28)
# 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 GRCh38 Chromosome 1, 237491919: 237491919
14 RYR2 NM_001035.2(RYR2): c.1822C> T (p.His608Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs727504718 GRCh37 Chromosome 1, 237655219: 237655219
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
27 RYR2 NM_001035.2(RYR2): c.1600T> C (p.Tyr534His) single nucleotide variant Uncertain significance rs376007579 GRCh38 Chromosome 1, 237456723: 237456723
28 RYR2 NM_001035.2(RYR2): c.1600T> C (p.Tyr534His) single nucleotide variant Uncertain significance rs376007579 GRCh37 Chromosome 1, 237620023: 237620023

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.09 RYR1 RYR2 RYR3 TGFB3
2
Show member pathways
12.84 RYR1 RYR2 RYR3 TGFB3
3
Show member pathways
12.59 RYR1 RYR2 RYR3
4
Show member pathways
12.43 RYR1 RYR2 RYR3
5
Show member pathways
12.38 RYR1 RYR2 RYR3
6
Show member pathways
12.31 RYR1 RYR2 RYR3
7
Show member pathways
12.1 RYR1 RYR2 RYR3
8
Show member pathways
12.07 RYR1 RYR2 RYR3
9
Show member pathways
12.01 RYR1 RYR2 RYR3
10
Show member pathways
11.77 RYR1 RYR2 RYR3
11 11.59 RYR1 RYR2 RYR3
12 11.47 RYR1 RYR2 RYR3
13 11.23 JUP RYR2
14 10.82 RYR1 RYR2 RYR3
15 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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.89 JUP RYR1 RYR2 RYR3 TGFB3
2 cytoplasmic vesicle membrane GO:0030659 9.63 RYR1 RYR2 RYR3
3 cell GO:0005623 9.58 RYR1 RYR2 RYR3
4 sarcolemma GO:0042383 9.54 RYR1 RYR2 RYR3
5 sarcoplasmic reticulum GO:0016529 9.5 RYR1 RYR2 RYR3
6 T-tubule GO:0030315 9.48 RYR1 TGFB3
7 junctional sarcoplasmic reticulum membrane GO:0014701 9.43 RYR1 RYR2
8 sarcoplasmic reticulum membrane GO:0033017 9.43 RYR1 RYR2 RYR3
9 smooth endoplasmic reticulum GO:0005790 9.33 RYR1 RYR2 RYR3
10 calcium channel complex GO:0034704 9.13 RYR1 RYR2 RYR3
11 Z disc GO:0030018 8.92 JUP RYR1 RYR2 RYR3

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.74 RYR1 RYR2 RYR3
2 transmembrane transport GO:0055085 9.73 RYR1 RYR2 RYR3
3 ion transmembrane transport GO:0034220 9.67 RYR1 RYR2 RYR3
4 response to hypoxia GO:0001666 9.65 RYR1 RYR2 TGFB3
5 calcium ion transport GO:0006816 9.63 RYR1 RYR2 RYR3
6 calcium ion transmembrane transport GO:0070588 9.58 RYR1 RYR2 RYR3
7 cellular response to calcium ion GO:0071277 9.55 RYR1 RYR3
8 protein homotetramerization GO:0051289 9.54 RYR1 RYR3
9 regulation of cytosolic calcium ion concentration GO:0051480 9.52 RYR1 RYR2
10 skin development GO:0043588 9.51 JUP RYR1
11 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.43 JUP RYR2
12 cellular calcium ion homeostasis GO:0006874 9.43 RYR1 RYR2 RYR3
13 response to caffeine GO:0031000 9.37 RYR1 RYR2
14 release of sequestered calcium ion into cytosol GO:0051209 9.33 RYR1 RYR2 RYR3
15 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.32 RYR1 RYR2
16 regulation of cardiac conduction GO:1903779 9.13 RYR1 RYR2 RYR3
17 cellular response to caffeine GO:0071313 8.8 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 9.54 RYR1 RYR2 RYR3
2 calmodulin binding GO:0005516 9.5 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 calcium-induced calcium release activity GO:0048763 9.13 RYR1 RYR2 RYR3
7 ryanodine-sensitive calcium-release channel activity GO:0005219 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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