MCID: ARR035
MIFTS: 26

Arrhythmogenic Right Ventricular Dysplasia 9 malady

Genetic diseases (common), Cardiovascular diseases categories

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia 9

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Aliases & Descriptions for Arrhythmogenic Right Ventricular Dysplasia 9:

Name: Arrhythmogenic Right Ventricular Dysplasia 9 49 11
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 9 24
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 67
 
Arrhythmogenic Right Ventricular Cardiomyopathy 9 67
Arvd9 67
Arvc9 67


Classifications:



External Ids:

OMIM49 609040
MedGen34 C1836906
MeSH36 D019571

Summaries for Arrhythmogenic Right Ventricular Dysplasia 9

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UniProtKB/Swiss-Prot:67 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, type 9, is related to arrhythmogenic right ventricular dysplasia 1 and arrhythmogenic right ventricular dysplasia/cardiomyopathy 9, and has symptoms including autosomal dominant inheritance, syncope and sudden cardiac death. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia 9 is PKP2 (Plakophilin 2). Affiliated tissues include heart.

Description from OMIM:49 609040

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia 9

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

idRelated DiseaseScoreTop Affiliating Genes
1arrhythmogenic right ventricular dysplasia 110.1
2arrhythmogenic right ventricular dysplasia/cardiomyopathy 910.1

Symptoms for Arrhythmogenic Right Ventricular Dysplasia 9

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Symptoms by clinical synopsis from OMIM:

609040

Clinical features from OMIM:

609040

HPO human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia 9:

(show all 8)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 syncope HP:0001279
3 sudden cardiac death HP:0001645
4 palpitations HP:0001962
5 aneurysm HP:0002617
6 ventricular arrhythmia HP:0004308
7 ventricular aneurysm HP:0006698
8 right ventricular cardiomyopathy HP:0011663

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia 9

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia 9

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia 9

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Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia 9:

id Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Cardiomyopathy, Type 924

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia 9

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

33
Heart

Animal Models for Arrhythmogenic Right Ventricular Dysplasia 9 or affiliated genes

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Publications for Arrhythmogenic Right Ventricular Dysplasia 9

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Variations for Arrhythmogenic Right Ventricular Dysplasia 9

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

67
id Symbol AA change Variation ID SNP ID
1PKP2p.Ser615PheVAR_021149
2PKP2p.Lys654GlnVAR_021150
3PKP2p.Cys796ArgVAR_021151
4PKP2p.Glu137LysVAR_065705
5PKP2p.Ser169GlyVAR_065706
6PKP2p.Phe424SerVAR_065711
7PKP2p.Tyr631CysVAR_065716
8PKP2p.Leu787PheVAR_065718

Clinvar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia 9:

5 (show all 41)
id Gene Variation Type Significance SNP ID Assembly Location
1PKP2NM_004572.3(PKP2): c.(?_1689)_(1806_?)del (p.(?))deletionLikely pathogenicGRCh37Chr 12, 32976979: 32977096
2PKP2NM_004572.3(PKP2): c.772A> T (p.Lys258Ter)single nucleotide variantLikely pathogenic, Pathogenicrs727504430GRCh37Chr 12, 33031042: 33031042
3PKP2NM_004572.3(PKP2): c.2509delA (p.Ser837Valfs)deletionLikely pathogenic, Pathogenicrs727504432GRCh37Chr 12, 32945646: 32945646
4PKP2NM_004572.3(PKP2): c.2551delA (p.Thr851Argfs)deletionLikely pathogenicrs727504786GRCh37Chr 12, 32945604: 32945604
5PKP2NM_004572.3(PKP2): c.253_256delGAGT (p.Glu85Metfs)deletionPathogenicrs786204388GRCh38Chr 12, 32879000: 32879003
6PKP2NM_004572.3(PKP2): c.337-2A> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs786204389GRCh38Chr 12, 32878545: 32878545
7PKP2NM_004572.3(PKP2): c.1170+1G> Asingle nucleotide variantLikely pathogenicrs786204392GRCh37Chr 12, 33021860: 33021860
8PKP2NM_004572.3(PKP2): c.1177C> T (p.Gln393Ter)single nucleotide variantLikely pathogenicrs786204393GRCh38Chr 12, 32850967: 32850967
9PKP2NM_004572.3(PKP2): c.2329_2334delATCATTinsG (p.Ile777Alafs)indelPathogenicrs786204394GRCh37Chr 12, 32949198: 32949203
10PKP2NM_004572.3(PKP2): c.2443_2448delAACACCinsGAAA (p.Asn815Glufs)indelLikely pathogenicrs786204395GRCh37Chr 12, 32949084: 32949089
11PKP2NM_004572.3(PKP2): c.368G> A (p.Trp123Ter)single nucleotide variantPathogenicrs760576804GRCh37Chr 12, 33031446: 33031446
12PKP2NM_004572.3(PKP2): c.1613G> A (p.Trp538Ter)single nucleotide variantLikely pathogenic, Pathogenicrs193922672GRCh37Chr 12, 32994037: 32994037
13PKP2NM_004572.3(PKP2): c.1132C> T (p.Gln378Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397516986GRCh37Chr 12, 33021899: 33021899
14PKP2NM_004572.3(PKP2): c.1170+2T> Asingle nucleotide variantLikely pathogenic, Pathogenicrs397516987GRCh37Chr 12, 33021859: 33021859
15PKP2NM_004572.3(PKP2): c.1211dupT (p.Val406Serfs)duplicationLikely pathogenicrs397516989GRCh37Chr 12, 33003867: 33003867
16PKP2NM_004572.3(PKP2): c.1237C> T (p.Arg413Ter)single nucleotide variantLikely pathogenic, Pathogenicrs372827156GRCh37Chr 12, 33003841: 33003841
17PKP2NM_004572.3(PKP2): c.1271T> C (p.Phe424Ser)single nucleotide variantLikely pathogenicrs397516990GRCh37Chr 12, 33003807: 33003807
18PKP2NM_004572.3(PKP2): c.1307_1315delTAAATGGGGinsATTTAGTT (p.Leu436Hisfs)indelLikely pathogenicrs397516992GRCh37Chr 12, 33003763: 33003771
19PKP2NM_004572.3(PKP2): c.1369_1372delCAAA (p.Gln457Terfs)deletionLikely pathogenicrs397516993GRCh37Chr 12, 33003706: 33003709
20PKP2NM_004572.3(PKP2): c.1378+1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs397516994GRCh37Chr 12, 33003699: 33003699
21PKP2NM_004572.3(PKP2): c.14delG (p.Gly5Alafs)deletionLikely pathogenic, Pathogenicrs397516996GRCh37Chr 12, 33049652: 33049652
22PKP2NM_004572.3(PKP2): c.148_151delACAG (p.Thr50Serfs)deletionLikely pathogenic, Pathogenicrs397516997GRCh37Chr 12, 33049515: 33049518
23PKP2NM_004572.3(PKP2): c.1614G> A (p.Trp538Ter)single nucleotide variantLikely pathogenicrs397517001GRCh37Chr 12, 32994036: 32994036
24PKP2NM_004572.3(PKP2): c.1688+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs397517003GRCh37Chr 12, 32993961: 32993961
25PKP2NM_004572.3(PKP2): c.1709delC (p.Ala570Valfs)deletionLikely pathogenicrs397517005GRCh37Chr 12, 32977076: 32977076
26PKP2NM_004572.3(PKP2): c.1759delG (p.Val587Serfs)deletionLikely pathogenicrs397517008GRCh37Chr 12, 32977026: 32977026
27PKP2NM_004572.3(PKP2): c.1760delT (p.Val587Alafs)deletionLikely pathogenic, Pathogenicrs397517009GRCh37Chr 12, 32977025: 32977025
28PKP2NM_004572.3(PKP2): c.1821dupT (p.Val608Cysfs)duplicationLikely pathogenicrs397517010GRCh37Chr 12, 32975551: 32975551
29PKP2NM_004572.3(PKP2): c.1912C> T (p.Gln638Ter)single nucleotide variantPathogenicrs397517012GRCh37Chr 12, 32975460: 32975460
30PKP2NM_004572.3(PKP2): c.1952_1955dupGAAG (p.Ser652Argfs)duplicationLikely pathogenicrs397517013GRCh37Chr 12, 32975417: 32975420
31PKP2NM_004572.3(PKP2): c.1999G> T (p.Glu667Ter)single nucleotide variantPathogenicrs397517015GRCh37Chr 12, 32974436: 32974436
32PKP2NM_004572.3(PKP2): c.2119C> T (p.Gln707Ter)single nucleotide variantLikely pathogenicrs397517017GRCh37Chr 12, 32974316: 32974316
33PKP2NM_004572.3(PKP2): c.2197_2202delCACACCinsG (p.His733Alafs)indelLikely pathogenic, Pathogenicrs397517021GRCh37Chr 12, 32955434: 32955439
34PKP2NM_004572.3(PKP2): c.2334_2338delTCCTGinsCAGT (p.Pro779Serfs)indelLikely pathogenicrs397517022GRCh37Chr 12, 32949194: 32949198
35PKP2NM_004572.3(PKP2): c.2489+1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs111517471GRCh37Chr 12, 32949042: 32949042
36PKP2NM_004572.3(PKP2): c.269_272delTACA (p.Leu90Profs)deletionLikely pathogenicrs397517025GRCh37Chr 12, 33031918: 33031921
37PKP2NM_004572.3(PKP2): c.951_983del33insAC (p.His318Glnfs)indelLikely pathogenicrs397517030GRCh37Chr 12, 33030831: 33030863
38PKP2NM_004572.3(PKP2): c.235C> T (p.Arg79Ter)single nucleotide variantPathogenicrs121434420GRCh37Chr 12, 33031955: 33031955
39PKP2NM_004572.3(PKP2): c.2203C> T (p.Arg735Ter)single nucleotide variantLikely pathogenic, Pathogenicrs121434421GRCh37Chr 12, 32955433: 32955433
40PKP2NM_004572.3(PKP2): c.2146-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs193922674GRCh37Chr 12, 32955491: 32955491
41PKP2NM_004572.3(PKP2): c.2489+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs111517471GRCh37Chr 12, 32949042: 32949042

Expression for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 9

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

Pathways for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 9

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GO Terms for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 9

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Sources for Arrhythmogenic Right Ventricular Dysplasia 9

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet