MCID: ARR023
MIFTS: 37

Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 57 75 73
Arrhythmogenic Right Ventricular Dysplasia 9 57 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 9 57 12 75
Arvd9 57 12 75
Arvc9 57 12 75
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 9 29 6
Arrhythmogenic Right Ventricular Cardiomyopathy 9; Arvc9 57
Familial Arrhythmogenic Right Ventricular Dysplasia 9 12
Dysplasia, Arrhythmogenic Right Ventricular, Type 9 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
arrhythmogenic right ventricular dysplasia, familial, 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 609040
Disease Ontology 12 DOID:0110077
ICD10 33 I42.8
MedGen 42 C1836906
MeSH 44 D019571
UMLS 73 C1836906

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

UniProtKB/Swiss-Prot : 75 Arrhythmogenic right ventricular dysplasia, familial, 9: 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, 9, also known as arrhythmogenic right ventricular dysplasia 9, is related to grover's disease and epidermolysis bullosa, lethal acantholytic, and has symptoms including syncope An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 is PKP2 (Plakophilin 2), and among its related pathways/superpathways are Keratinization and Dilated cardiomyopathy (DCM). Affiliated tissues include heart, and related phenotypes are syncope and sudden cardiac death

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutations in the PKP2 gene on chromosome 12p11.

Description from OMIM: 609040

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 grover's disease 10.2 DSP JUP
2 epidermolysis bullosa, lethal acantholytic 10.2 DSP JUP
3 cardiomyopathy, dilated, with woolly hair and keratoderma 10.1 DSP JUP
4 palmoplantar keratoderma and woolly hair 10.1 DSP JUP
5 ectodermal dysplasia/skin fragility syndrome 10.1 DSP JUP
6 benign chronic pemphigus 10.1 DSP JUP
7 darier-white disease 10.0 DSP JUP
8 arrhythmogenic right ventricular dysplasia, familial, 2 10.0 JUP RYR2
9 palmoplantar keratosis 9.9 DSP JUP
10 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.9 DSP RYR2
11 cardiac arrhythmia 9.8 JUP RYR2
12 ventricular fibrillation, paroxysmal familial, 1 9.8 DSP RYR2
13 middle lobe syndrome 9.8 JUP KRT74
14 pemphigus vulgaris 9.8 DSP JUP
15 naxos disease 9.8 DSP JUP PKP2
16 woolly hair syndrome 9.7 DSP KRT74
17 pemphigus 9.7 DSP JUP
18 cardiac conduction defect 9.5 DSP PLN RYR2
19 cardiac arrest 9.5 DSP PLN RYR2
20 hair disease 9.4 DSP KRT74
21 hypertrophic cardiomyopathy 9.3 DSP PLN RYR2
22 atrial standstill 1 9.3 DSP JUP PKP2 PLN
23 long qt syndrome 1 9.2 DSP RYR2
24 intrinsic cardiomyopathy 9.0 DSP JUP PKP2 RYR2
25 left ventricular noncompaction 9.0 DSP JUP PKP2 RYR2
26 heart disease 8.9 DSP PKP2 RYR2 TGFB3
27 dilated cardiomyopathy 8.5 DSP JUP PKP2 PLN RYR2
28 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 8.4 DSP JUP PKP2 RYR2 TGFB3
29 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 8.4 DSP JUP PKP2 RYR2 TGFB3
30 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 8.4 DSP JUP PKP2 RYR2 TGFB3
31 arrhythmogenic right ventricular cardiomyopathy 7.9 DSP JUP PKP2 PLN RYR2 TGFB3
32 arrhythmogenic right ventricular dysplasia, familial, 8 7.5 DSP JUP KRT74 PKP2 RYR2 TGFB3
33 arrhythmogenic right ventricular dysplasia, familial, 1 7.5 DSP JUP KRT74 PKP2 RYR2 TGFB3

Graphical network of the top 20 diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:



Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
cardiomyopathy, right ventricular
fibrofatty replacement of right ventricular myocardium
ventricular arrhythmia
ventricular aneurysm
sudden cardiac death
more

Clinical features from OMIM:

609040

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 syncope 32 HP:0001279
2 sudden cardiac death 32 HP:0001645
3 palpitations 32 HP:0001962
4 dilatation 32 HP:0002617
5 ventricular arrhythmia 32 HP:0004308
6 dilatation of the ventricular cavity 32 HP:0006698
7 right ventricular cardiomyopathy 32 HP:0011663

UMLS symptoms related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:


syncope

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.02 DSP JUP PKP2 RYR2 TGFB3

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Cardiomyopathy, Type 9 29 PKP2

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

41
Heart

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

UniProtKB/Swiss-Prot genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

75
# Symbol AA change Variation ID SNP ID
1 PKP2 p.Ser615Phe VAR_021149
2 PKP2 p.Lys654Gln VAR_021150
3 PKP2 p.Cys796Arg VAR_021151 rs794729098
4 PKP2 p.Glu137Lys VAR_065705 rs781739949
5 PKP2 p.Ser169Gly VAR_065706 rs139139859
6 PKP2 p.Phe424Ser VAR_065711 rs397516990
7 PKP2 p.Tyr631Cys VAR_065716
8 PKP2 p.Leu787Phe VAR_065718

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

6
(show top 50) (show all 379)
# Gene Variation Type Significance SNP ID Assembly Location
1 PKP2 NM_004572.3(PKP2): c.235C> T (p.Arg79Ter) single nucleotide variant Pathogenic rs121434420 GRCh37 Chromosome 12, 33031955: 33031955
2 PKP2 NM_004572.3(PKP2): c.235C> T (p.Arg79Ter) single nucleotide variant Pathogenic rs121434420 GRCh38 Chromosome 12, 32879021: 32879021
3 PKP2 NM_004572.3(PKP2): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121434421 GRCh37 Chromosome 12, 32955433: 32955433
4 PKP2 NM_004572.3(PKP2): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121434421 GRCh38 Chromosome 12, 32802499: 32802499
5 PKP2 NM_004572.3(PKP2): c.2146-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs193922674 GRCh37 Chromosome 12, 32955491: 32955491
6 PKP2 NM_004572.3(PKP2): c.2146-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs193922674 GRCh38 Chromosome 12, 32802557: 32802557
7 PKP2 NM_004572.3(PKP2): c.2489+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs111517471 GRCh37 Chromosome 12, 32949042: 32949042
8 PKP2 NM_004572.3(PKP2): c.2489+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs111517471 GRCh38 Chromosome 12, 32796108: 32796108
9 PKP2 NM_004572.3(PKP2): c.1613G> A (p.Trp538Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922672 GRCh37 Chromosome 12, 32994037: 32994037
10 PKP2 NM_004572.3(PKP2): c.1613G> A (p.Trp538Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922672 GRCh38 Chromosome 12, 32841103: 32841103
11 PLN NM_002667.4(PLN): c.40_42delAGA (p.Arg14del) deletion Pathogenic rs397516784 GRCh37 Chromosome 6, 118880124: 118880126
12 PLN NM_002667.4(PLN): c.40_42delAGA (p.Arg14del) deletion Pathogenic rs397516784 GRCh38 Chromosome 6, 118558961: 118558963
13 PKP2 NM_004572.3(PKP2): c.1211dupT (p.Val406Serfs) insertion Pathogenic rs397516989 GRCh37 Chromosome 12, 33003867: 33003867
14 PKP2 NM_004572.3(PKP2): c.1211dupT (p.Val406Serfs) insertion Pathogenic rs397516989 GRCh38 Chromosome 12, 32850933: 32850933
15 PKP2 NM_004572.3(PKP2): c.1237C> T (p.Arg413Ter) single nucleotide variant Pathogenic/Likely pathogenic rs372827156 GRCh37 Chromosome 12, 33003841: 33003841
16 PKP2 NM_004572.3(PKP2): c.1237C> T (p.Arg413Ter) single nucleotide variant Pathogenic/Likely pathogenic rs372827156 GRCh38 Chromosome 12, 32850907: 32850907
17 PKP2 NM_004572.3(PKP2): c.148_151delACAG (p.Thr50Serfs) deletion Pathogenic rs397516997 GRCh37 Chromosome 12, 33049515: 33049518
18 PKP2 NM_004572.3(PKP2): c.148_151delACAG (p.Thr50Serfs) deletion Pathogenic rs397516997 GRCh38 Chromosome 12, 32896581: 32896584
19 PKP2 NM_004572.3(PKP2): c.1821dupT (p.Val608Cysfs) duplication Pathogenic/Likely pathogenic rs397517010 GRCh37 Chromosome 12, 32975551: 32975551
20 PKP2 NM_004572.3(PKP2): c.1821dupT (p.Val608Cysfs) duplication Pathogenic/Likely pathogenic rs397517010 GRCh38 Chromosome 12, 32822617: 32822617
21 PKP2 NM_004572.3(PKP2): c.1912C> T (p.Gln638Ter) single nucleotide variant Pathogenic rs397517012 GRCh37 Chromosome 12, 32975460: 32975460
22 PKP2 NM_004572.3(PKP2): c.1912C> T (p.Gln638Ter) single nucleotide variant Pathogenic rs397517012 GRCh38 Chromosome 12, 32822526: 32822526
23 PKP2 NM_004572.3(PKP2): c.1952_1955dupGAAG (p.Ser652Argfs) duplication Pathogenic rs397517013 GRCh37 Chromosome 12, 32975417: 32975420
24 PKP2 NM_004572.3(PKP2): c.1952_1955dupGAAG (p.Ser652Argfs) duplication Pathogenic rs397517013 GRCh38 Chromosome 12, 32822483: 32822486
25 PKP2 NM_004572.3(PKP2): c.2197_2202delCACACCinsG (p.His733Alafs) indel Pathogenic rs397517021 GRCh37 Chromosome 12, 32955434: 32955439
26 PKP2 NM_004572.3(PKP2): c.2197_2202delCACACCinsG (p.His733Alafs) indel Pathogenic rs397517021 GRCh38 Chromosome 12, 32802500: 32802505
27 PKP2 NM_004572.3(PKP2): c.1489C> T (p.Arg497Ter) single nucleotide variant Pathogenic rs151212477 GRCh37 Chromosome 12, 32996137: 32996137
28 PKP2 NM_004572.3(PKP2): c.1489C> T (p.Arg497Ter) single nucleotide variant Pathogenic rs151212477 GRCh38 Chromosome 12, 32843203: 32843203
29 PKP2 NM_004572.3(PKP2): c.1489C> T (p.Arg497Ter) single nucleotide variant Pathogenic rs151212477 NCBI36 Chromosome 12, 32887404: 32887404
30 PKP2 NM_001005242.2(PKP2): c.184C> A (p.Gln62Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs199601548 GRCh37 Chromosome 12, 33049482: 33049482
31 PKP2 NM_001005242.2(PKP2): c.184C> A (p.Gln62Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs199601548 GRCh38 Chromosome 12, 32896548: 32896548
32 PKP2 NM_004572.3(PKP2): c.2485G> A (p.Asp829Asn) single nucleotide variant Benign/Likely benign rs151264959 GRCh37 Chromosome 12, 32949047: 32949047
33 PKP2 NM_004572.3(PKP2): c.2485G> A (p.Asp829Asn) single nucleotide variant Benign/Likely benign rs151264959 GRCh38 Chromosome 12, 32796113: 32796113
34 PKP2 NM_004572.3(PKP2): c.1636G> A (p.Ala546Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs368740836 GRCh37 Chromosome 12, 32994014: 32994014
35 PKP2 NM_004572.3(PKP2): c.1636G> A (p.Ala546Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs368740836 GRCh38 Chromosome 12, 32841080: 32841080
36 PKP2 NM_004572.3(PKP2): c.1093A> G (p.Met365Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143900944 GRCh37 Chromosome 12, 33021938: 33021938
37 PKP2 NM_004572.3(PKP2): c.1093A> G (p.Met365Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143900944 GRCh38 Chromosome 12, 32869004: 32869004
38 PKP2 NM_004572.3(PKP2): c.2509delA (p.Ser837Valfs) deletion Pathogenic/Likely pathogenic rs727504432 GRCh37 Chromosome 12, 32945646: 32945646
39 PKP2 NM_004572.3(PKP2): c.2509delA (p.Ser837Valfs) deletion Pathogenic/Likely pathogenic rs727504432 GRCh38 Chromosome 12, 32792712: 32792712
40 PKP2 NM_004572.3(PKP2): c.2365A> G (p.Ile789Val) single nucleotide variant Conflicting interpretations of pathogenicity rs551045165 GRCh37 Chromosome 12, 32949167: 32949167
41 PKP2 NM_004572.3(PKP2): c.2365A> G (p.Ile789Val) single nucleotide variant Conflicting interpretations of pathogenicity rs551045165 GRCh38 Chromosome 12, 32796233: 32796233
42 PKP2 NM_004572.3(PKP2): c.2133C> T (p.Ala711=) single nucleotide variant Benign/Likely benign rs529442984 GRCh37 Chromosome 12, 32974302: 32974302
43 PKP2 NM_004572.3(PKP2): c.2133C> T (p.Ala711=) single nucleotide variant Benign/Likely benign rs529442984 GRCh38 Chromosome 12, 32821368: 32821368
44 PKP2 NM_004572.3(PKP2): c.1671C> T (p.Asn557=) single nucleotide variant Conflicting interpretations of pathogenicity rs535581825 GRCh37 Chromosome 12, 32993979: 32993979
45 PKP2 NM_004572.3(PKP2): c.1671C> T (p.Asn557=) single nucleotide variant Conflicting interpretations of pathogenicity rs535581825 GRCh38 Chromosome 12, 32841045: 32841045
46 PKP2 NM_004572.3(PKP2): c.1468C> T (p.Arg490Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs149930872 GRCh37 Chromosome 12, 32996158: 32996158
47 PKP2 NM_004572.3(PKP2): c.1468C> T (p.Arg490Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs149930872 GRCh38 Chromosome 12, 32843224: 32843224
48 PKP2 NM_004572.3(PKP2): c.826C> T (p.Pro276Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs201944276 GRCh37 Chromosome 12, 33030988: 33030988
49 PKP2 NM_004572.3(PKP2): c.826C> T (p.Pro276Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs201944276 GRCh38 Chromosome 12, 32878054: 32878054
50 PKP2 NM_004572.3(PKP2): c.1974A> G (p.Gln658=) single nucleotide variant Uncertain significance rs138901574 GRCh37 Chromosome 12, 32974461: 32974461

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9.

Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Pathways related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.91 DSP JUP KRT74 PKP2
2
Show member pathways
11.67 PLN RYR2 TGFB3
3
Show member pathways
11.66 DSP JUP PKP2 RYR2
4 11.32 PLN TGFB3
5 10.83 DSP JUP
6 10.67 DSP JUP PLN RYR2

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Cellular components related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 9.54 DSP JUP PKP2
2 adherens junction GO:0005912 9.46 JUP PKP2
3 sarcoplasmic reticulum GO:0016529 9.43 PLN RYR2
4 cornified envelope GO:0001533 9.43 DSP JUP PKP2
5 sarcoplasmic reticulum membrane GO:0033017 9.4 PLN RYR2
6 intercalated disc GO:0014704 9.33 DSP JUP PKP2
7 fascia adherens GO:0005916 9.32 DSP JUP
8 intermediate filament GO:0005882 9.26 DSP JUP KRT74 PKP2
9 desmosome GO:0030057 8.8 DSP JUP PKP2

Biological processes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.62 DSP JUP KRT74 PKP2
2 cell-cell adhesion GO:0098609 9.58 DSP JUP PKP2
3 BMP signaling pathway GO:0030509 9.57 RYR2 TGFB3
4 wound healing GO:0042060 9.56 DSP TGFB3
5 regulation of cardiac conduction GO:1903779 9.55 PLN RYR2
6 skin development GO:0043588 9.54 DSP JUP
7 adherens junction organization GO:0034332 9.52 DSP JUP
8 regulation of cytosolic calcium ion concentration GO:0051480 9.51 PLN RYR2
9 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.49 PLN RYR2
10 intermediate filament cytoskeleton organization GO:0045104 9.48 DSP KRT74
11 ventricular cardiac muscle cell action potential GO:0086005 9.46 PKP2 RYR2
12 cornification GO:0070268 9.46 DSP JUP KRT74 PKP2
13 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.43 PKP2 RYR2
14 regulation of heart rate by cardiac conduction GO:0086091 9.43 DSP JUP PKP2
15 desmosome assembly GO:0002159 9.37 JUP PKP2
16 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.13 DSP JUP PKP2
17 regulation of ventricular cardiac muscle cell action potential GO:0098911 8.92 DSP JUP PKP2 RYR2

Molecular functions related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.33 DSP JUP KRT74
2 cell adhesion molecule binding GO:0050839 9.32 DSP JUP
3 protein kinase C binding GO:0005080 9.26 DSP PKP2
4 alpha-catenin binding GO:0045294 8.96 JUP PKP2
5 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.8 DSP JUP PKP2

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

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
Content
Loading form....