MCID: ARR035
MIFTS: 23

Arrhythmogenic Right Ventricular Dysplasia 9 malady

Categories: Genetic diseases (common), Cardiovascular diseases

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 50 12
Arrhythmogenic Right Ventricular Cardiomyopathy 9 68 25
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 68
 
Arvd9 68
Arvc9 68

Characteristics:

HPO:

62
arrhythmogenic right ventricular dysplasia 9:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 609040
MedGen35 C1836906
MeSH37 D019571

Summaries for Arrhythmogenic Right Ventricular Dysplasia 9

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UniProtKB/Swiss-Prot:68 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/cardiomyopathy 9 and arrhythmogenic right ventricular dysplasia 1, and has symptoms including syncope, 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:50 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/cardiomyopathy 911.0
2arrhythmogenic right ventricular dysplasia 110.0

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

UMLS symptoms related to Arrhythmogenic Right Ventricular Dysplasia 9:


syncope

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia 9

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Comparison Between Standard and Ultrasound Integrated Approach for Risk Stratification of Syncope in the Emergency DepartmentRecruitingNCT02781207

Search 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 925

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia 9

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

34
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:

68
id Symbol AA change Variation ID SNP ID
1PKP2p.Ser615PheVAR_021149
2PKP2p.Lys654GlnVAR_021150
3PKP2p.Cys796ArgVAR_021151rs794729098
4PKP2p.Glu137LysVAR_065705rs781739949
5PKP2p.Ser169GlyVAR_065706rs139139859
6PKP2p.Phe424SerVAR_065711rs397516990
7PKP2p.Tyr631CysVAR_065716
8PKP2p.Leu787PheVAR_065718

Clinvar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia 9:

5 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1PKP2NM_004572.3(PKP2): c.253_256delGAGT (p.Glu85Metfs)deletionPathogenicrs786204388GRCh38Chr 12, 32879000: 32879003
2PKP2NM_004572.3(PKP2): c.337-2A> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs786204389GRCh38Chr 12, 32878545: 32878545
3PKP2NM_004572.3(PKP2): c.1170+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs786204392GRCh37Chr 12, 33021860: 33021860
4PKP2NM_004572.3(PKP2): c.1177C> T (p.Gln393Ter)single nucleotide variantLikely pathogenicrs786204393GRCh38Chr 12, 32850967: 32850967
5PKP2NM_004572.3(PKP2): c.2329_2334delATCATTinsG (p.Ile777Alafs)indelPathogenicrs786204394GRCh37Chr 12, 32949198: 32949203
6PKP2NM_004572.3(PKP2): c.2443_2448delAACACCinsGAAA (p.Asn815Glufs)indelLikely pathogenicrs786204395GRCh37Chr 12, 32949084: 32949089
7PKP2NM_004572.3(PKP2): c.368G> A (p.Trp123Ter)single nucleotide variantPathogenicrs760576804GRCh37Chr 12, 33031446: 33031446
8PKP2NM_004572.3(PKP2): c.1643delG (p.Gly548Valfs)deletionLikely pathogenic, Pathogenicrs794729137GRCh38Chr 12, 32841073: 32841073
9PKP2NM_004572.3(PKP2): c.2198_2203delACACCCinsG (p.His733Argfs)indelPathogenicrs878854710GRCh37Chr 12, 32955433: 32955438
10PKP2NM_004572.3(PKP2): c.1132C> T (p.Gln378Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397516986GRCh37Chr 12, 33021899: 33021899
11PKP2NM_004572.3(PKP2): c.1237C> T (p.Arg413Ter)single nucleotide variantLikely pathogenic, Pathogenicrs372827156GRCh37Chr 12, 33003841: 33003841
12PKP2NM_004572.3(PKP2): c.148_151delACAG (p.Thr50Serfs)deletionLikely pathogenic, Pathogenicrs397516997GRCh37Chr 12, 33049515: 33049518
13PKP2NM_004572.3(PKP2): c.1912C> T (p.Gln638Ter)single nucleotide variantPathogenicrs397517012GRCh37Chr 12, 32975460: 32975460
14PKP2NM_004572.3(PKP2): c.2197_2202delCACACCinsG (p.His733Alafs)indelPathogenicrs397517021GRCh37Chr 12, 32955434: 32955439
15PKP2NM_004572.3(PKP2): c.235C> T (p.Arg79Ter)single nucleotide variantPathogenicrs121434420GRCh37Chr 12, 33031955: 33031955
16PKP2NM_004572.3(PKP2): c.2203C> T (p.Arg735Ter)single nucleotide variantLikely pathogenic, Pathogenicrs121434421GRCh37Chr 12, 32955433: 32955433
17PKP2NM_004572.3(PKP2): c.2146-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs193922674GRCh37Chr 12, 32955491: 32955491
18PKP2NM_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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet