ARVD9
MCID: ARR035
MIFTS: 40

Arrhythmogenic Right Ventricular Dysplasia 9 (ARVD9) malady

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia 9

Aliases & Descriptions for Arrhythmogenic Right Ventricular Dysplasia 9:

Name: Arrhythmogenic Right Ventricular Dysplasia 9 54 12 13 14
Arrhythmogenic Right Ventricular Cardiomyopathy 9 12 66 29
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 66 69
Arvc9 12 66
Arvd9 12 66
Familial Arrhythmogenic Right Ventricular Dysplasia 9 12

Characteristics:

HPO:

32
arrhythmogenic right ventricular dysplasia 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 609040
Disease Ontology 12 DOID:0110077
ICD10 33 I42.8
MedGen 40 C1836906
MeSH 42 D019571

Summaries for Arrhythmogenic Right Ventricular Dysplasia 9

UniProtKB/Swiss-Prot : 66 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 9, also known as arrhythmogenic right ventricular cardiomyopathy 9, is related to arrhythmogenic right ventricular dysplasia 1 and arrhythmogenic right ventricular dysplasia/cardiomyopathy 9, and has symptoms including syncope, sudden cardiac death and aneurysm. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia 9 is PKP2 (Plakophilin 2), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include heart, and related phenotypes are cardiovascular system and embryo

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 9

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

(show all 29)
id Related Disease Score Top Affiliating Genes
1 arrhythmogenic right ventricular dysplasia 1 10.9
2 arrhythmogenic right ventricular dysplasia/cardiomyopathy 9 10.8
3 branchiooculofacial syndrome 10.1 DSP JUP
4 skin fragility-woolly hair syndrome 10.1 DSP JUP
5 gupta patton syndrome 10.1 DSP JUP
6 codas syndrome 10.1 DSP JUP
7 choanal atresia and lymphedema 10.1 DSP JUP
8 lipoma 10.0 DSP JUP
9 leukodystrophy, hypomyelinating, 2 10.0 JUP RYR2
10 sed, maroteaux type 10.0 DSP JUP
11 carotid artery thrombosis 10.0 DSP JUP
12 pol iii-related leukodystrophies 10.0 DSP JUP
13 cranial nerve iii tumor 10.0 JUP KRT74
14 klippel-feil syndrome 2 9.9 DSP JUP PKP2
15 x-linked intellectual disability with or without nystagmus 9.9 DSP KRT74
16 atrial fibrillation, familial, 3 9.9 DSP RYR2
17 pompholyx 9.9 DSP JUP
18 pyoderma 9.8 DSP KRT74
19 chromosome 15q11-q13 duplication syndrome 9.8 DSP JUP KRT74
20 pervasive developmental disorder 9.7 DSP JUP PKP2 RYR2
21 emery-dreifuss muscular dystrophy, dominant type 9.7 DSP JUP RYR2
22 fibular hemimelia, bilateral 9.5 DSP JUP PKP2 RYR2 TGFB3
23 fibular hemimelia, unilateral 9.5 DSP JUP PKP2 RYR2 TGFB3
24 congenital absence of upper arm and forearm with hand present, bilateral 9.5 DSP JUP PKP2 RYR2 TGFB3
25 familial partial lipodystrophy 9.5 DSP JUP PKP2 RYR2 TGFB3
26 cdkl5-related angelman-like syndrome 9.5 DSP JUP PKP2 RYR2 TGFB3
27 epidermolysis bullosa, lethal acantholytic 9.2 DSP JUP KRT74 PKP2 RYR2 TGFB3
28 pallister-killian syndrome 9.2 DSP JUP KRT74 PKP2 RYR2 TGFB3
29 ventricular tachycardia, catecholaminergic polymorphic, 4 9.2 DSP JUP KRT74 PKP2 RYR2 TGFB3

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



Diseases related to Arrhythmogenic Right Ventricular Dysplasia 9

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia 9

Symptoms by clinical synopsis from OMIM:

609040

Clinical features from OMIM:

609040

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia 9:

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

UMLS symptoms related to Arrhythmogenic Right Ventricular Dysplasia 9:


syncope

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia 9:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.55 DSP JUP PKP2 RYR2 TGFB3
2 embryo MP:0005380 9.26 DSP JUP RYR2 TGFB3
3 muscle MP:0005369 8.92 DSP JUP PKP2 RYR2

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia 9

Interventional clinical trials:


id Name Status NCT ID Phase
1 Comparison Between Standard and Ultrasound Integrated Approach for Risk Stratification of Syncope in the Emergency Department Recruiting NCT02781207

Search NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia 9

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia 9

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia 9:

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

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia 9

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

39
Heart

Publications for Arrhythmogenic Right Ventricular Dysplasia 9

Variations for Arrhythmogenic Right Ventricular Dysplasia 9

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

66
id 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 9:

6 (show all 26)
id 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.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121434421 GRCh37 Chromosome 12, 32955433: 32955433
3 PKP2 NM_004572.3(PKP2): c.2146-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs193922674 GRCh37 Chromosome 12, 32955491: 32955491
4 PKP2 NM_004572.3(PKP2): c.2489+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs111517471 GRCh37 Chromosome 12, 32949042: 32949042
5 PKP2 NM_004572.3(PKP2): c.1613G> A (p.Trp538Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922672 GRCh37 Chromosome 12, 32994037: 32994037
6 PKP2 NM_004572.3(PKP2): c.1237C> T (p.Arg413Ter) single nucleotide variant Pathogenic/Likely pathogenic rs372827156 GRCh37 Chromosome 12, 33003841: 33003841
7 PKP2 NM_004572.3(PKP2): c.148_151delACAG (p.Thr50Serfs) deletion Pathogenic/Likely pathogenic rs397516997 GRCh37 Chromosome 12, 33049515: 33049518
8 PKP2 NM_004572.3(PKP2): c.1489C> T (p.Arg497Ter) single nucleotide variant Pathogenic rs151212477 GRCh37 Chromosome 12, 32996137: 32996137
9 PKP2 NM_004572.3(PKP2): c.2509delA (p.Ser837Valfs) deletion Pathogenic/Likely pathogenic rs727504432 GRCh37 Chromosome 12, 32945646: 32945646
10 PKP2 NM_004572.3(PKP2): c.1170+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs786204392 GRCh37 Chromosome 12, 33021860: 33021860
11 PKP2 NM_004572.3(PKP2): c.368G> A (p.Trp123Ter) single nucleotide variant Pathogenic rs760576804 GRCh37 Chromosome 12, 33031446: 33031446
12 PKP2 NM_004572.3(PKP2): c.2386T> C (p.Cys796Arg) single nucleotide variant Pathogenic rs794729098 GRCh37 Chromosome 12, 32949146: 32949146
13 PKP2 NM_004572.3(PKP2): c.1643delG (p.Gly548Valfs) deletion Pathogenic/Likely pathogenic rs794729137 GRCh38 Chromosome 12, 32841073: 32841073
14 PKP2 NM_004572.3(PKP2): c.1125_1132delTTTCATAC (p.Phe376Alafs) deletion Pathogenic rs794729124 GRCh38 Chromosome 12, 32868965: 32868972
15 PKP2 NM_004572.3(PKP2): c.837_838delCG (p.Val280Hisfs) deletion Pathogenic rs772220644 GRCh37 Chromosome 12, 33030976: 33030977
16 PKP2 NM_004572.3(PKP2): c.275T> A (p.Leu92Ter) single nucleotide variant Pathogenic rs763639737 GRCh38 Chromosome 12, 32878981: 32878981
17 PKP2 NM_004572.3(PKP2): c.2198_2203delACACCCinsG (p.His733Argfs) indel Pathogenic rs878854710 GRCh38 Chromosome 12, 32802499: 32802504
18 PKP2 NM_004572.3(PKP2): c.2146-?_2489+?del deletion Pathogenic GRCh38 Chromosome 12, 32796109: 32802556
19 PKP2 NC_000012.12: g.(?_32877846)_(32879032_?)del deletion Pathogenic GRCh37 Chromosome 12, 33030780: 33031966
20 PKP2 NM_004572.3(PKP2): c.929_951dup23 (p.His318Trpfs) duplication Pathogenic GRCh38 Chromosome 12, 32877929: 32877951
21 PKP2 NM_004572.3(PKP2): c.2081_2083delTCCinsATCGCCAAAA (p.Val694Aspfs) indel Pathogenic GRCh38 Chromosome 12, 32821418: 32821420
22 PKP2 NM_004572.3(PKP2): c.2578-2A> C single nucleotide variant Likely pathogenic rs1060501188 GRCh38 Chromosome 12, 32792494: 32792494
23 PKP2 NM_004572.3(PKP2): c.2300-1G> A single nucleotide variant Likely pathogenic rs1060501184 GRCh38 Chromosome 12, 32796299: 32796299
24 PKP2 NM_004572.3(PKP2): c.1844C> T (p.Ser615Phe) single nucleotide variant Pathogenic rs1060501186 GRCh38 Chromosome 12, 32822594: 32822594
25 PKP2 NM_004572.3(PKP2): c.1757delT (p.Leu586Argfs) deletion Pathogenic rs1060501182 GRCh38 Chromosome 12, 32824094: 32824094
26 PKP2 NM_004572.3(PKP2): c.1725_1728dupGATG (p.Arg577Aspfs) duplication Pathogenic GRCh38 Chromosome 12, 32824123: 32824126

Expression for Arrhythmogenic Right Ventricular Dysplasia 9

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

Pathways for Arrhythmogenic Right Ventricular Dysplasia 9

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.88 DSP JUP KRT74 PKP2
2
Show member pathways
11.91 DSP JUP KRT74 PKP2
3 11.45 DSP JUP
4
Show member pathways
11.36 DSP PKP2
5
Show member pathways
11.33 DSP JUP PKP2 RYR2
6 10.88 DSP JUP RYR2
7 10.76 DSP JUP

GO Terms for Arrhythmogenic Right Ventricular Dysplasia 9

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

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.58 DSP JUP TGFB3
2 cell-cell junction GO:0005911 9.54 DSP JUP PKP2
3 Z disc GO:0030018 9.46 JUP RYR2
4 adherens junction GO:0005912 9.43 JUP PKP2
5 cornified envelope GO:0001533 9.43 DSP JUP PKP2
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 9 according to GeneCards Suite gene sharing:

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.62 DSP JUP KRT74 PKP2
2 single organismal cell-cell adhesion GO:0016337 9.58 DSP JUP PKP2
3 wound healing GO:0042060 9.55 DSP TGFB3
4 BMP signaling pathway GO:0030509 9.54 RYR2 TGFB3
5 skin development GO:0043588 9.52 DSP JUP
6 establishment of protein localization to plasma membrane GO:0090002 9.51 JUP PKP2
7 adherens junction organization GO:0034332 9.49 DSP JUP
8 intermediate filament cytoskeleton organization GO:0045104 9.48 DSP KRT74
9 ventricular cardiac muscle cell action potential GO:0086005 9.46 PKP2 RYR2
10 cornification GO:0070268 9.46 DSP JUP KRT74 PKP2
11 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.43 PKP2 RYR2
12 regulation of heart rate by cardiac conduction GO:0086091 9.43 DSP JUP PKP2
13 desmosome assembly GO:0002159 9.37 JUP PKP2
14 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.13 DSP JUP PKP2
15 regulation of ventricular cardiac muscle cell action potential GO:0098911 8.92 DSP JUP PKP2 RYR2

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

id Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.37 PKP2 RYR2
2 structural molecule activity GO:0005198 9.33 DSP JUP KRT74
3 cell adhesion molecule binding GO:0050839 9.32 DSP JUP
4 protein kinase C binding GO:0005080 9.26 DSP PKP2
5 alpha-catenin binding GO:0045294 8.96 JUP PKP2
6 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 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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