MCID: ARR035
MIFTS: 25

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 51 11 12
Arrhythmogenic Right Ventricular Cardiomyopathy 9 11 69 26
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 69 67
 
Arvd9 11 69
Arvc9 11 69
Familial Arrhythmogenic Right Ventricular Dysplasia 9 11

Characteristics:

HPO:

63
arrhythmogenic right ventricular dysplasia 9:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 609040
Disease Ontology11 DOID:0110077
ICD1029 I42.8
MedGen36 C1836906
MeSH38 D019571

Summaries for Arrhythmogenic Right Ventricular Dysplasia 9

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UniProtKB/Swiss-Prot:69 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 palpitations. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia 9 is PKP2 (Plakophilin 2). Affiliated tissues include heart.

Disease Ontology:11 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutations in the PKP2 gene on chromosome 12p11.

Description from OMIM:51 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 110.9
2arrhythmogenic right ventricular dysplasia/cardiomyopathy 910.8

Symptoms for Arrhythmogenic Right Ventricular Dysplasia 9

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Symptoms by clinical synopsis from OMIM:

609040

Clinical features from OMIM:

609040

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia 9:

 63 (show all 7)
id Description HPO Frequency HPO Source Accession
1 syncope63 HP:0001279
2 sudden cardiac death63 HP:0001645
3 palpitations63 HP:0001962
4 aneurysm63 HP:0002617
5 ventricular arrhythmia63 HP:0004308
6 ventricular aneurysm63 HP:0006698
7 right ventricular cardiomyopathy63 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 926

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia 9

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

35
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:

69
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 11)
id Gene Variation Type Significance SNP ID Assembly Location
1PKP2NM_004572.3(PKP2): c.1170+1G> ASNVLikely pathogenic, Pathogenicrs786204392GRCh37Chr 12, 33021860: 33021860
2PKP2NM_004572.3(PKP2): c.368G> A (p.Trp123Ter)SNVPathogenicrs760576804GRCh37Chr 12, 33031446: 33031446
3PKP2NM_004572.3(PKP2): c.1643delG (p.Gly548Valfs)deletionLikely pathogenic, Pathogenicrs794729137GRCh38Chr 12, 32841073: 32841073
4PKP2NM_004572.3(PKP2): c.2198_2203delACACCCinsG (p.His733Argfs)indelPathogenicrs878854710GRCh37Chr 12, 32955433: 32955438
5PKP2NM_004572.3(PKP2): c.2146-?_2489+?deldeletionPathogenicChr na, -1: -1
6PKP2NM_004572.3(PKP2): c.148_151delACAG (p.Thr50Serfs)deletionLikely pathogenic, Pathogenicrs397516997GRCh37Chr 12, 33049515: 33049518
7PKP2NM_004572.3(PKP2): c.235C> T (p.Arg79Ter)SNVPathogenicrs121434420GRCh37Chr 12, 33031955: 33031955
8PKP2NM_004572.3(PKP2): c.2203C> T (p.Arg735Ter)SNVLikely pathogenic, Pathogenicrs121434421GRCh37Chr 12, 32955433: 32955433
9PKP2NM_004572.3(PKP2): c.2146-1G> CSNVLikely pathogenic, Pathogenicrs193922674GRCh37Chr 12, 32955491: 32955491
10PKP2NM_004572.3(PKP2): c.2489+1G> ASNVLikely pathogenic, Pathogenicrs111517471GRCh37Chr 12, 32949042: 32949042
11PKP2NM_004572.3(PKP2): c.1489C> T (p.Arg497Ter)SNVPathogenicrs151212477GRCh37Chr 12, 32996137: 32996137

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet