ARVD9
MCID: ARR035
MIFTS: 40

Arrhythmogenic Right Ventricular Dysplasia 9 (ARVD9) 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 52 11 12 13
Arrhythmogenic Right Ventricular Cardiomyopathy 9 11 70 27
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 70 68
 
Arvd9 11 70
Arvc9 11 70
Familial Arrhythmogenic Right Ventricular Dysplasia 9 11

Characteristics:

HPO:

64
arrhythmogenic right ventricular dysplasia 9:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 609040
Disease Ontology11 DOID:0110077
ICD1030 I42.8
MedGen37 C1836906
MeSH39 D019571

Summaries for Arrhythmogenic Right Ventricular Dysplasia 9

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UniProtKB/Swiss-Prot:70 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, syncope and syncope. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia 9 is PKP2 (Plakophilin 2), and among its related pathways are Cytoskeleton remodeling Neurofilaments and Adhesion. Affiliated tissues include heart, and related mouse phenotypes are embryo and cardiovascular system.

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:52 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:

(show all 29)
idRelated DiseaseScoreTop Affiliating Genes
1arrhythmogenic right ventricular dysplasia 110.9
2arrhythmogenic right ventricular dysplasia/cardiomyopathy 910.8
3branchiooculofacial syndrome10.1DSP, JUP
4skin fragility-woolly hair syndrome10.1DSP, JUP
5gupta patton syndrome10.1DSP, JUP
6codas syndrome10.1DSP, JUP
7choanal atresia and lymphedema10.1DSP, JUP
8lipoma10.0DSP, JUP
9leukodystrophy, hypomyelinating, 210.0JUP, RYR2
10sed, maroteaux type10.0DSP, JUP
11carotid artery thrombosis10.0DSP, JUP
12pol iii-related leukodystrophies10.0DSP, JUP
13cranial nerve iii tumor10.0JUP, KRT74
14klippel-feil syndrome 29.9DSP, JUP, PKP2
15x-linked intellectual disability with or without nystagmus9.9DSP, KRT74
16atrial fibrillation, familial, 39.9DSP, RYR2
17pompholyx9.9DSP, JUP
18pyoderma9.8DSP, KRT74
19chromosome 15q11-q13 duplication syndrome9.8DSP, JUP, KRT74
20pervasive developmental disorder9.7DSP, JUP, PKP2, RYR2
21emery-dreifuss muscular dystrophy, dominant type9.7DSP, JUP, RYR2
22fibular hemimelia, bilateral9.5DSP, JUP, PKP2, RYR2, TGFB3
23fibular hemimelia, unilateral9.5DSP, JUP, PKP2, RYR2, TGFB3
24congenital absence of upper arm and forearm with hand present, bilateral9.5DSP, JUP, PKP2, RYR2, TGFB3
25familial partial lipodystrophy9.5DSP, JUP, PKP2, RYR2, TGFB3
26cdkl5-related angelman-like syndrome9.5DSP, JUP, PKP2, RYR2, TGFB3
27epidermolysis bullosa, lethal acantholytic9.2DSP, JUP, KRT74, PKP2, RYR2, TGFB3
28pallister-killian syndrome9.2DSP, JUP, KRT74, PKP2, RYR2, TGFB3
29ventricular tachycardia, catecholaminergic polymorphic, 49.2DSP, 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

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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:

 64 (show all 7)
id Description HPO Frequency HPO Source Accession
1 syncope64 HP:0001279
2 sudden cardiac death64 HP:0001645
3 palpitations64 HP:0001962
4 aneurysm64 HP:0002617
5 ventricular arrhythmia64 HP:0004308
6 ventricular aneurysm64 HP:0006698
7 right ventricular cardiomyopathy64 HP:0011663

UMLS symptoms related to Arrhythmogenic Right Ventricular Dysplasia 9:


syncope

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia 9 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.1DSP, JUP, RYR2, TGFB3
2MP:00053858.7DSP, JUP, PKP2, RYR2, TGFB3
3MP:00053698.5DSP, JUP, PKP2, RYR2

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 927

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia 9

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

36
Heart

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:

70
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 26)
id Gene Variation Type Significance SNP ID Assembly Location
1PKP2NM_ 004572.3(PKP2): c.2509delA (p.Ser837Valfs)deletionPathogenic/ Likely pathogenicrs727504432GRCh37Chr 12, 32945646: 32945646
2PKP2NM_ 004572.3(PKP2): c.1170+1G> ASNVPathogenic/ Likely pathogenicrs786204392GRCh37Chr 12, 33021860: 33021860
3PKP2NM_ 004572.3(PKP2): c.368G> A (p.Trp123Ter)SNVPathogenicrs760576804GRCh37Chr 12, 33031446: 33031446
4PKP2NM_ 004572.3(PKP2): c.2386T> C (p.Cys796Arg)SNVPathogenicrs794729098GRCh37Chr 12, 32949146: 32949146
5PKP2NM_ 004572.3(PKP2): c.837_ 838delCG (p.Val280Hisfs)deletionPathogenicrs772220644GRCh37Chr 12, 33030976: 33030977
6PKP2NM_ 004572.3(PKP2): c.1125_ 1132delTTTCATAC (p.Phe376Alafs)deletionPathogenicrs794729124GRCh38Chr 12, 32868965: 32868972
7PKP2NM_ 004572.3(PKP2): c.275T> A (p.Leu92Ter)SNVPathogenicrs763639737GRCh38Chr 12, 32878981: 32878981
8PKP2NM_ 004572.3(PKP2): c.1643delG (p.Gly548Valfs)deletionPathogenic/ Likely pathogenicrs794729137GRCh38Chr 12, 32841073: 32841073
9PKP2NM_ 004572.3(PKP2): c.2198_ 2203delACACCCinsG (p.His733Argfs)indelPathogenicrs878854710GRCh38Chr 12, 32802499: 32802504
10PKP2NM_ 004572.3(PKP2): c.2146-?_ 2489+?deldeletionPathogenicGRCh38Chr 12, 32796109: 32802556
11PKP2NM_ 004572.3(PKP2): c.1613G> A (p.Trp538Ter)SNVPathogenic/ Likely pathogenicrs193922672GRCh37Chr 12, 32994037: 32994037
12PKP2NM_ 004572.3(PKP2): c.1757delT (p.Leu586Argfs)deletionPathogenicrs1060501182GRCh38Chr 12, 32824094: 32824094
13PKP2NM_ 004572.3(PKP2): c.2300-1G> ASNVLikely pathogenicrs1060501184GRCh38Chr 12, 32796299: 32796299
14PKP2NM_ 004572.3(PKP2): c.1725_ 1728dupGATG (p.Arg577Aspfs)duplicationPathogenicGRCh38Chr 12, 32824123: 32824126
15PKP2NM_ 004572.3(PKP2): c.929_ 951dup23 (p.His318Trpfs)duplicationPathogenicGRCh38Chr 12, 32877929: 32877951
16PKP2NM_ 004572.3(PKP2): c.2081_ 2083delTCCinsATCGCCAAAA (p.Val694Aspfs)indelPathogenicGRCh38Chr 12, 32821418: 32821420
17PKP2NM_ 004572.3(PKP2): c.1844C> T (p.Ser615Phe)SNVPathogenicrs1060501186GRCh38Chr 12, 32822594: 32822594
18PKP2NM_ 004572.3(PKP2): c.2578-2A> CSNVLikely pathogenicrs1060501188GRCh38Chr 12, 32792494: 32792494
19PKP2NC_ 000012.12: g.(?_ 32877846)_ (32879032_ ?)deldeletionPathogenicGRCh37Chr 12, 33030780: 33031966
20PKP2NM_ 004572.3(PKP2): c.1237C> T (p.Arg413Ter)SNVPathogenic/ Likely pathogenicrs372827156GRCh37Chr 12, 33003841: 33003841
21PKP2NM_ 004572.3(PKP2): c.148_ 151delACAG (p.Thr50Serfs)deletionPathogenic/ Likely pathogenicrs397516997GRCh37Chr 12, 33049515: 33049518
22PKP2NM_ 004572.3(PKP2): c.235C> T (p.Arg79Ter)SNVPathogenicrs121434420GRCh37Chr 12, 33031955: 33031955
23PKP2NM_ 004572.3(PKP2): c.2203C> T (p.Arg735Ter)SNVPathogenic/ Likely pathogenicrs121434421GRCh37Chr 12, 32955433: 32955433
24PKP2NM_ 004572.3(PKP2): c.2146-1G> CSNVPathogenic/ Likely pathogenicrs193922674GRCh37Chr 12, 32955491: 32955491
25PKP2NM_ 004572.3(PKP2): c.2489+1G> ASNVPathogenic/ Likely pathogenicrs111517471GRCh37Chr 12, 32949042: 32949042
26PKP2NM_ 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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Cellular components related to Arrhythmogenic Right Ventricular Dysplasia 9 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1adherens junctionGO:000591210.3JUP, PKP2
2fascia adherensGO:000591610.1DSP, JUP
3cell-cell junctionGO:00059119.8DSP, JUP, PKP2
4cornified envelopeGO:00015339.8DSP, JUP, PKP2
5desmosomeGO:00300579.8DSP, JUP, PKP2
6intercalated discGO:00147049.7DSP, JUP, PKP2
7extracellular matrixGO:00310129.6DSP, JUP, TGFB3
8Z discGO:00300189.4JUP, RYR2
9intermediate filamentGO:00058828.8DSP, JUP, KRT74, PKP2

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1desmosome assemblyGO:000215910.3JUP, PKP2
2establishment of protein localization to plasma membraneGO:009000210.3JUP, PKP2
3adherens junction organizationGO:003433210.2DSP, JUP
4cell communication by electrical coupling involved in cardiac conductionGO:008606410.1PKP2, RYR2
5skin developmentGO:004358810.0DSP, JUP
6BMP signaling pathwayGO:003050910.0RYR2, TGFB3
7ventricular cardiac muscle cell action potentialGO:008600510.0PKP2, RYR2
8intermediate filament cytoskeleton organizationGO:00451049.8DSP, KRT74
9bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:00860739.8DSP, JUP, PKP2
10regulation of heart rate by cardiac conductionGO:00860919.7DSP, JUP, PKP2
11single organismal cell-cell adhesionGO:00163379.7DSP, JUP, PKP2
12wound healingGO:00420609.4DSP, TGFB3
13regulation of ventricular cardiac muscle cell action potentialGO:00989119.1DSP, JUP, PKP2, RYR2
14cornificationGO:00702688.9DSP, JUP, KRT74, PKP2
15keratinizationGO:00314248.9DSP, JUP, KRT74, PKP2

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

idNameGO IDScoreTop Affiliating Genes
1alpha-catenin bindingGO:004529410.3JUP, PKP2
2protein kinase C bindingGO:000508010.1DSP, PKP2
3cell adhesion molecule bindingGO:005083910.1DSP, JUP
4ion channel bindingGO:004432510.1PKP2, RYR2
5cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communicationGO:00860839.7DSP, JUP, PKP2
6structural molecule activityGO:00051988.7DSP, JUP, KRT74

Sources for Arrhythmogenic Right Ventricular Dysplasia 9

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet