MCID: ARR035
MIFTS: 19

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 46 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 46
 
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 9 22


Classifications:



External Ids:

OMIM46 609040

Summaries for Arrhythmogenic Right Ventricular Dysplasia 9

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MalaCards based summary: Arrhythmogenic Right Ventricular Dysplasia 9, is also known as arrhythmogenic right ventricular dysplasia, familial, 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).

Description from OMIM:46 609040

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia 9

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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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Drug clinical trials:

Search ClinicalTrials for Arrhythmogenic Right Ventricular Dysplasia 9

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 922

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia 9

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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:

63
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
id Gene Variation Type Significance SNP ID Assembly Location
1PKP2NM_004572.3(PKP2): c.235C> T (p.Arg79Ter)single nucleotide variantPathogenicrs121434420GRCh37Chr 12, 33031955: 33031955
2PKP2NM_004572.3(PKP2): c.2203C> T (p.Arg735Ter)single nucleotide variantPathogenicrs121434421GRCh37Chr 12, 32955433: 32955433
3PKP2NM_004572.3(PKP2): c.2146-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs193922674GRCh37Chr 12, 32955491: 32955491
4PKP2NM_004572.3(PKP2): c.2489+1G> Asingle nucleotide variantPathogenicrs111517471GRCh37Chr 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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet