MCID: ARR050
MIFTS: 36

Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 57 75 73
Arrhythmogenic Right Ventricular Dysplasia 8 57 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 8 57 12 75
Arvd8 57 12 75
Arvc8 57 12 75
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 8 29 6
Arrhythmogenic Right Ventricular Cardiomyopathy 8; Arvc8 57
Familial Arrhythmogenic Right Ventricular Dysplasia 8 12
Dysplasia, Ventricular, Right, Arrhythmogenic, Type 8 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

32
arrhythmogenic right ventricular dysplasia, familial, 8:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 57 607450
Disease Ontology 12 DOID:0110076
ICD10 33 I42.8
MedGen 42 C1843896
MeSH 44 D019571
UMLS 73 C1843896

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

OMIM : 57 ARVD8 is characterized by progressive degeneration of the right ventricular myocardium. Patients may experience life-threatening cardiac arrhythmias and show depolarization, conduction, and repolarization defects on electrocardiography (Rampazzo et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of ARVD, see 107970. (607450)

MalaCards based summary : Arrhythmogenic Right Ventricular Dysplasia, Familial, 8, also known as arrhythmogenic right ventricular dysplasia 8, is related to grover's disease and epidermolysis bullosa, lethal acantholytic. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 is DSP (Desmoplakin), and among its related pathways/superpathways are Keratinization and Cytoskeleton remodeling Neurofilaments. Affiliated tissues include heart, and related phenotypes are congestive heart failure and sudden cardiac death

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24.

UniProtKB/Swiss-Prot : 75 Arrhythmogenic right ventricular dysplasia, familial, 8: 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.

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 grover's disease 10.4 DSP JUP
2 epidermolysis bullosa, lethal acantholytic 10.4 DSP JUP
3 cardiomyopathy, dilated, with woolly hair and keratoderma 10.4 DSP JUP
4 palmoplantar keratoderma and woolly hair 10.4 DSP JUP
5 ectodermal dysplasia/skin fragility syndrome 10.4 DSP JUP
6 benign chronic pemphigus 10.3 DSP JUP
7 darier-white disease 10.3 DSP JUP
8 arrhythmogenic right ventricular dysplasia, familial, 2 10.2 JUP RYR2
9 palmoplantar keratosis 10.2 DSP JUP
10 cardiac conduction defect 10.2 DSP RYR2
11 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.2 DSP RYR2
12 woolly hair syndrome 10.2 DSP KRT74
13 middle lobe syndrome 10.1 JUP KRT74
14 ventricular fibrillation, paroxysmal familial, 1 10.1 DSP RYR2
15 pemphigus vulgaris 10.1 DSP JUP
16 cardiac arrhythmia 10.0 JUP RYR2
17 pemphigus 10.0 DSP JUP
18 hair disease 9.9 DSP KRT74
19 naxos disease 9.8 DSP JUP PKP2
20 atrial standstill 1 9.8 DSP JUP PKP2
21 cardiac arrest 9.8 DSP RYR2
22 brugada syndrome 9.6 JUP PKP2 TMEM43
23 long qt syndrome 1 9.5 DSP RYR2
24 left ventricular noncompaction 9.2 DSP JUP PKP2 RYR2
25 intrinsic cardiomyopathy 8.7 DSP JUP PKP2 RYR2 TMEM43
26 dilated cardiomyopathy 8.7 DSP JUP PKP2 RYR2 TMEM43
27 heart disease 8.7 DSP PKP2 RYR2 TGFB3
28 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 7.7 DSP JUP PKP2 RYR2 TGFB3 TMEM43
29 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 7.7 DSP JUP PKP2 RYR2 TGFB3 TMEM43
30 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 7.7 DSP JUP PKP2 RYR2 TGFB3 TMEM43
31 arrhythmogenic right ventricular cardiomyopathy 7.7 DSP JUP PKP2 RYR2 TGFB3 TMEM43
32 arrhythmogenic right ventricular dysplasia, familial, 9 7.5 DSP JUP KRT74 PKP2 RYR2 TGFB3
33 arrhythmogenic right ventricular dysplasia, familial, 1 7.5 DSP JUP KRT74 PKP2 RYR2 TGFB3

Graphical network of the top 20 diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:



Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
cardiomyopathy, right ventricular
ventricular arrhythmia (pvc, vt, and vf)
sudden cardiac death
heart failure


Clinical features from OMIM:

607450

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 32 HP:0001635
2 sudden cardiac death 32 HP:0001645
3 ventricular fibrillation 32 HP:0001663
4 ventricular tachycardia 32 HP:0004756
5 ventricular extrasystoles 32 HP:0006682
6 right ventricular cardiomyopathy 32 HP:0011663

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.35 DSP JUP PKP2 RYR2 TGFB3
2 muscle MP:0005369 8.92 DSP JUP PKP2 RYR2

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Cardiomyopathy, Type 8 29 DSP

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:

41
Heart

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

UniProtKB/Swiss-Prot genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:

75
# Symbol AA change Variation ID SNP ID
1 DSP p.Arg1255Lys VAR_023814 rs777407386
2 DSP p.Ile445Val VAR_065693 rs934142779

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:

6
(show top 50) (show all 630)
# Gene Variation Type Significance SNP ID Assembly Location
1 DSP NM_004415.3(DSP): c.897C> G (p.Ser299Arg) single nucleotide variant Pathogenic rs121912992 GRCh37 Chromosome 6, 7565711: 7565711
2 DSP NM_004415.3(DSP): c.897C> G (p.Ser299Arg) single nucleotide variant Pathogenic rs121912992 GRCh38 Chromosome 6, 7565478: 7565478
3 DSP NM_004415.3(DSP): c.8501G> A (p.Arg2834His) single nucleotide variant Pathogenic rs121912999 GRCh37 Chromosome 6, 7585996: 7585996
4 DSP NM_004415.3(DSP): c.8501G> A (p.Arg2834His) single nucleotide variant Pathogenic rs121912999 GRCh38 Chromosome 6, 7585763: 7585763
5 DSP NM_004415.3(DSP): c.4531C> T (p.Gln1511Ter) single nucleotide variant Pathogenic rs397516940 GRCh37 Chromosome 6, 7580954: 7580954
6 DSP NM_004415.3(DSP): c.4531C> T (p.Gln1511Ter) single nucleotide variant Pathogenic rs397516940 GRCh38 Chromosome 6, 7580721: 7580721
7 DSP NM_004415.3(DSP): c.478C> T (p.Arg160Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516943 GRCh37 Chromosome 6, 7559514: 7559514
8 DSP NM_004415.3(DSP): c.478C> T (p.Arg160Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516943 GRCh38 Chromosome 6, 7559281: 7559281
9 DSP NM_004415.3(DSP): c.699G> A (p.Trp233Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516955 GRCh37 Chromosome 6, 7562986: 7562986
10 DSP NM_004415.3(DSP): c.699G> A (p.Trp233Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516955 GRCh38 Chromosome 6, 7562753: 7562753
11 DSP NM_004415.3(DSP): c.1696G> A (p.Ala566Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148147581 GRCh37 Chromosome 6, 7570791: 7570791
12 DSP NM_004415.3(DSP): c.1696G> A (p.Ala566Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148147581 GRCh38 Chromosome 6, 7570558: 7570558
13 DSP NM_004415.3(DSP): c.5324G> T (p.Arg1775Ile) single nucleotide variant Uncertain significance rs34738426 GRCh37 Chromosome 6, 7581747: 7581747
14 DSP NM_004415.3(DSP): c.5324G> T (p.Arg1775Ile) single nucleotide variant Uncertain significance rs34738426 GRCh38 Chromosome 6, 7581514: 7581514
15 DSP NM_004415.3(DSP): c.5513G> A (p.Arg1838His) single nucleotide variant Conflicting interpretations of pathogenicity rs377715841 GRCh37 Chromosome 6, 7583008: 7583008
16 DSP NM_004415.3(DSP): c.5513G> A (p.Arg1838His) single nucleotide variant Conflicting interpretations of pathogenicity rs377715841 GRCh38 Chromosome 6, 7582775: 7582775
17 DSP NM_004415.3(DSP): c.939+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727504443 GRCh37 Chromosome 6, 7565754: 7565754
18 DSP NM_004415.3(DSP): c.939+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727504443 GRCh38 Chromosome 6, 7565521: 7565521
19 DSP NM_004415.3(DSP): c.2091A= (p.Gly697=) single nucleotide variant Benign rs2076304 GRCh37 Chromosome 6, 7572262: 7572262
20 DSP NM_004415.3(DSP): c.2091A= (p.Gly697=) single nucleotide variant Benign rs2076304 GRCh38 Chromosome 6, 7572029: 7572029
21 DSP NM_004415.3(DSP): c.2723G> A (p.Arg908His) single nucleotide variant Conflicting interpretations of pathogenicity rs142494121 GRCh37 Chromosome 6, 7576619: 7576619
22 DSP NM_004415.3(DSP): c.2723G> A (p.Arg908His) single nucleotide variant Conflicting interpretations of pathogenicity rs142494121 GRCh38 Chromosome 6, 7576386: 7576386
23 DSP NM_004415.3(DSP): c.3507C> T (p.Tyr1169=) single nucleotide variant Likely benign rs148894066 GRCh37 Chromosome 6, 7579930: 7579930
24 DSP NM_004415.3(DSP): c.3507C> T (p.Tyr1169=) single nucleotide variant Likely benign rs148894066 GRCh38 Chromosome 6, 7579697: 7579697
25 DSP NM_004415.3(DSP): c.3862A> C (p.Lys1288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138907450 GRCh37 Chromosome 6, 7580285: 7580285
26 DSP NM_004415.3(DSP): c.3862A> C (p.Lys1288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138907450 GRCh38 Chromosome 6, 7580052: 7580052
27 DSP NM_004415.3(DSP): c.4490G> A (p.Arg1497Gln) single nucleotide variant Uncertain significance rs727505037 GRCh37 Chromosome 6, 7580913: 7580913
28 DSP NM_004415.3(DSP): c.4490G> A (p.Arg1497Gln) single nucleotide variant Uncertain significance rs727505037 GRCh38 Chromosome 6, 7580680: 7580680
29 DSP NM_004415.3(DSP): c.1743C> T (p.Ala581=) single nucleotide variant Conflicting interpretations of pathogenicity rs139095230 GRCh37 Chromosome 6, 7571657: 7571657
30 DSP NM_004415.3(DSP): c.1743C> T (p.Ala581=) single nucleotide variant Conflicting interpretations of pathogenicity rs139095230 GRCh38 Chromosome 6, 7571424: 7571424
31 DSP NM_004415.3(DSP): c.1920C> T (p.Ile640=) single nucleotide variant Benign/Likely benign rs74806300 GRCh37 Chromosome 6, 7572091: 7572091
32 DSP NM_004415.3(DSP): c.1920C> T (p.Ile640=) single nucleotide variant Benign/Likely benign rs74806300 GRCh38 Chromosome 6, 7571858: 7571858
33 DSP NM_004415.3(DSP): c.3650C> T (p.Thr1217Met) single nucleotide variant Conflicting interpretations of pathogenicity rs535202724 GRCh37 Chromosome 6, 7580073: 7580073
34 DSP NM_004415.3(DSP): c.3650C> T (p.Thr1217Met) single nucleotide variant Conflicting interpretations of pathogenicity rs535202724 GRCh38 Chromosome 6, 7579840: 7579840
35 DSP NM_004415.3(DSP): c.3923G> A (p.Arg1308Gln) single nucleotide variant Benign/Likely benign rs184154918 GRCh37 Chromosome 6, 7580346: 7580346
36 DSP NM_004415.3(DSP): c.3923G> A (p.Arg1308Gln) single nucleotide variant Benign/Likely benign rs184154918 GRCh38 Chromosome 6, 7580113: 7580113
37 DSP NM_004415.3(DSP): c.4105G> A (p.Glu1369Lys) single nucleotide variant Uncertain significance rs141805096 GRCh37 Chromosome 6, 7580528: 7580528
38 DSP NM_004415.3(DSP): c.4105G> A (p.Glu1369Lys) single nucleotide variant Uncertain significance rs141805096 GRCh38 Chromosome 6, 7580295: 7580295
39 DSP NM_004415.3(DSP): c.5178C> A (p.Asn1726Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147415451 GRCh37 Chromosome 6, 7581601: 7581601
40 DSP NM_004415.3(DSP): c.5178C> A (p.Asn1726Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147415451 GRCh38 Chromosome 6, 7581368: 7581368
41 DSP NM_004415.3(DSP): c.6351T> C (p.Asp2117=) single nucleotide variant Benign/Likely benign rs148743859 GRCh37 Chromosome 6, 7583846: 7583846
42 DSP NM_004415.3(DSP): c.6351T> C (p.Asp2117=) single nucleotide variant Benign/Likely benign rs148743859 GRCh38 Chromosome 6, 7583613: 7583613
43 DSP NM_004415.3(DSP): c.5304G> C (p.Gly1768=) single nucleotide variant Benign/Likely benign rs530612211 GRCh37 Chromosome 6, 7581727: 7581727
44 DSP NM_004415.3(DSP): c.5304G> C (p.Gly1768=) single nucleotide variant Benign/Likely benign rs530612211 GRCh38 Chromosome 6, 7581494: 7581494
45 DSP NM_004415.3(DSP): c.5523A> C (p.Ser1841=) single nucleotide variant Conflicting interpretations of pathogenicity rs730882116 GRCh37 Chromosome 6, 7583018: 7583018
46 DSP NM_004415.3(DSP): c.5523A> C (p.Ser1841=) single nucleotide variant Conflicting interpretations of pathogenicity rs730882116 GRCh38 Chromosome 6, 7582785: 7582785
47 DSP NM_004415.3(DSP): c.5554C> T (p.Arg1852Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs550818559 GRCh37 Chromosome 6, 7583049: 7583049
48 DSP NM_004415.3(DSP): c.5554C> T (p.Arg1852Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs550818559 GRCh38 Chromosome 6, 7582816: 7582816
49 DSP NM_004415.3(DSP): c.7916G> A (p.Arg2639Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs116888866 GRCh37 Chromosome 6, 7585411: 7585411
50 DSP NM_004415.3(DSP): c.7916G> A (p.Arg2639Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs116888866 GRCh38 Chromosome 6, 7585178: 7585178

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8.

Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Pathways related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.91 DSP JUP KRT74 PKP2
2
Show member pathways
11.36 DSP PKP2
3
Show member pathways
11.33 DSP JUP PKP2 RYR2
4 10.88 DSP JUP RYR2
5 10.76 DSP JUP

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Cellular components related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 9.54 DSP JUP PKP2
2 cornified envelope GO:0001533 9.43 DSP JUP PKP2
3 adherens junction GO:0005912 9.4 JUP PKP2
4 intercalated disc GO:0014704 9.33 DSP JUP PKP2
5 fascia adherens GO:0005916 9.32 DSP JUP
6 intermediate filament GO:0005882 9.26 DSP JUP KRT74 PKP2
7 desmosome GO:0030057 8.8 DSP JUP PKP2

Biological processes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.62 DSP JUP KRT74 PKP2
2 cell-cell adhesion GO:0098609 9.58 DSP JUP PKP2
3 BMP signaling pathway GO:0030509 9.54 RYR2 TGFB3
4 wound healing GO:0042060 9.52 DSP TGFB3
5 skin development GO:0043588 9.51 DSP JUP
6 adherens junction organization GO:0034332 9.49 DSP JUP
7 intermediate filament cytoskeleton organization GO:0045104 9.48 DSP KRT74
8 ventricular cardiac muscle cell action potential GO:0086005 9.46 PKP2 RYR2
9 cornification GO:0070268 9.46 DSP JUP KRT74 PKP2
10 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.43 PKP2 RYR2
11 regulation of heart rate by cardiac conduction GO:0086091 9.43 DSP JUP PKP2
12 desmosome assembly GO:0002159 9.37 JUP PKP2
13 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.13 DSP JUP PKP2
14 regulation of ventricular cardiac muscle cell action potential GO:0098911 8.92 DSP JUP PKP2 RYR2

Molecular functions related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion molecule binding GO:0050839 9.37 DSP JUP
2 structural molecule activity GO:0005198 9.33 DSP JUP KRT74
3 protein self-association GO:0043621 9.32 RYR2 TMEM43
4 protein kinase C binding GO:0005080 9.26 DSP PKP2
5 alpha-catenin binding GO:0045294 8.96 JUP PKP2
6 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.8 DSP JUP PKP2

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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