ARVD8
MCID: ARR050
MIFTS: 37

Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 (ARVD8)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases, Skin 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 58 76 74
Arrhythmogenic Right Ventricular Dysplasia 8 58 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 8 58 12 76
Arvd8 58 12 76
Arvc8 58 12 76
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 8 30 6
Arrhythmogenic Right Ventricular Cardiomyopathy 8; Arvc8 58
Familial Arrhythmogenic Right Ventricular Dysplasia 8 12
Dysplasia, Ventricular, Right, Arrhythmogenic, Type 8 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

33
arrhythmogenic right ventricular dysplasia, familial, 8:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110076
OMIM 58 607450
MeSH 45 D019571
ICD10 34 I42.8
MedGen 43 C1843896
UMLS 74 C1843896

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

OMIM : 58 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 Adhesion. Affiliated tissues include heart, and related phenotypes are sudden cardiac death and congestive heart failure

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 : 76 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 in the Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 family:

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

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 10.1 DSP JUP
2 epidermolysis bullosa, lethal acantholytic 10.1 DSP JUP
3 palmoplantar keratoderma and woolly hair 10.1 DSP JUP
4 ectodermal dysplasia/skin fragility syndrome 10.1 DSP JUP
5 benign chronic pemphigus 10.1 DSP JUP
6 pemphigus 10.1 DSP JUP
7 darier-white disease 10.0 DSP JUP
8 left bundle branch hemiblock 10.0 JUP PKP2
9 cardiac conduction defect 10.0 DSP RYR2
10 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.0 DSP RYR2
11 palmoplantar keratosis 9.9 DSP JUP
12 ventricular fibrillation, paroxysmal familial, 1 9.9 DSP RYR2
13 pemphigus vulgaris 9.9 DSP JUP
14 cardiac arrhythmia 9.9 JUP RYR2
15 arrhythmogenic right ventricular dysplasia, familial, 4 9.9 PKP2 TGFB3
16 naxos disease 9.8 DSP JUP PKP2
17 atrial standstill 1 9.8 DSP JUP PKP2
18 catecholaminergic polymorphic ventricular tachycardia 9.8 DSP RYR2
19 long qt syndrome 1 9.8 DSP PKP2 RYR2
20 brugada syndrome 9.7 JUP PKP2 TMEM43
21 cardiac arrest 9.7 DSP RYR2
22 arrhythmogenic right ventricular dysplasia, familial, 2 9.5 JUP RYR2 TGFB3
23 cardiomyopathy, dilated, with woolly hair and keratoderma 9.3 DSP JUP PKP2 TGFB3
24 arrhythmogenic right ventricular dysplasia, familial, 1 9.3 DSP JUP RYR2 TGFB3
25 heart disease 9.3 DSP PKP2 RYR2 TGFB3
26 intrinsic cardiomyopathy 9.2 DSP JUP PKP2 RYR2 TMEM43
27 dilated cardiomyopathy 9.2 DSP JUP PKP2 RYR2 TMEM43
28 arrhythmogenic right ventricular dysplasia, familial, 9 9.0 DSP JUP PKP2 RYR2 TGFB3
29 left ventricular noncompaction 9.0 DSP JUP PKP2 RYR2 TGFB3
30 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 8.7 DSP JUP PKP2 RYR2 TGFB3 TMEM43
31 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 8.7 DSP JUP PKP2 RYR2 TGFB3 TMEM43
32 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 8.7 DSP JUP PKP2 RYR2 TGFB3 TMEM43
33 arrhythmogenic right ventricular cardiomyopathy 8.7 DSP JUP PKP2 RYR2 TGFB3 TMEM43

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

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

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 33 HP:0001645
2 congestive heart failure 33 HP:0001635
3 ventricular tachycardia 33 HP:0004756
4 ventricular extrasystoles 33 HP:0006682
5 ventricular fibrillation 33 HP:0001663
6 right ventricular cardiomyopathy 33 HP:0011663

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
sudden cardiac death
cardiomyopathy, right ventricular
heart failure
ventricular arrhythmia (pvc, vt, and vf)

Clinical features from OMIM:

607450

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.55 DSP JUP PKP2 RYR2 TGFB3
2 embryo MP:0005380 9.26 DSP JUP RYR2 TGFB3
3 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 30 DSP

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

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

42
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:

76
# 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 1009)
# Gene Variation Type Significance SNP ID Assembly Location
1 DSP NM_004415.3(DSP): c.1696G> A (p.Ala566Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148147581 GRCh37 Chromosome 6, 7570791: 7570791
2 DSP NM_004415.3(DSP): c.1696G> A (p.Ala566Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148147581 GRCh38 Chromosome 6, 7570558: 7570558
3 DSP NM_004415.3(DSP): c.5324G> T (p.Arg1775Ile) single nucleotide variant Uncertain significance rs34738426 GRCh37 Chromosome 6, 7581747: 7581747
4 DSP NM_004415.3(DSP): c.5324G> T (p.Arg1775Ile) single nucleotide variant Uncertain significance rs34738426 GRCh38 Chromosome 6, 7581514: 7581514
5 DSP NM_001008844.2(DSP): c.3716G> A (p.Arg1239His) single nucleotide variant Conflicting interpretations of pathogenicity rs377715841 GRCh37 Chromosome 6, 7583008: 7583008
6 DSP NM_001008844.2(DSP): c.3716G> A (p.Arg1239His) single nucleotide variant Conflicting interpretations of pathogenicity rs377715841 GRCh38 Chromosome 6, 7582775: 7582775
7 DSP NM_004415.3(DSP): c.4180C> T (p.Gln1394Ter) single nucleotide variant Pathogenic/Likely pathogenic rs140474226 GRCh37 Chromosome 6, 7580603: 7580603
8 DSP NM_004415.3(DSP): c.4180C> T (p.Gln1394Ter) single nucleotide variant Pathogenic/Likely pathogenic rs140474226 GRCh38 Chromosome 6, 7580370: 7580370
9 DSP NM_004415.3(DSP): c.939+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727504443 GRCh37 Chromosome 6, 7565754: 7565754
10 DSP NM_004415.3(DSP): c.939+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727504443 GRCh38 Chromosome 6, 7565521: 7565521
11 DSP NM_004415.3(DSP): c.2091A= (p.Gly697=) single nucleotide variant Benign rs2076304 GRCh37 Chromosome 6, 7572262: 7572262
12 DSP NM_004415.3(DSP): c.2091A= (p.Gly697=) single nucleotide variant Benign rs2076304 GRCh38 Chromosome 6, 7572029: 7572029
13 DSP NM_004415.3(DSP): c.2723G> A (p.Arg908His) single nucleotide variant Conflicting interpretations of pathogenicity rs142494121 GRCh37 Chromosome 6, 7576619: 7576619
14 DSP NM_004415.3(DSP): c.2723G> A (p.Arg908His) single nucleotide variant Conflicting interpretations of pathogenicity rs142494121 GRCh38 Chromosome 6, 7576386: 7576386
15 DSP NM_004415.3(DSP): c.3507C> T (p.Tyr1169=) single nucleotide variant Likely benign rs148894066 GRCh37 Chromosome 6, 7579930: 7579930
16 DSP NM_004415.3(DSP): c.3507C> T (p.Tyr1169=) single nucleotide variant Likely benign rs148894066 GRCh38 Chromosome 6, 7579697: 7579697
17 DSP NM_004415.3(DSP): c.3862A> C (p.Lys1288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138907450 GRCh37 Chromosome 6, 7580285: 7580285
18 DSP NM_004415.3(DSP): c.3862A> C (p.Lys1288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138907450 GRCh38 Chromosome 6, 7580052: 7580052
19 DSP NM_004415.3(DSP): c.4490G> A (p.Arg1497Gln) single nucleotide variant Uncertain significance rs727505037 GRCh38 Chromosome 6, 7580680: 7580680
20 DSP NM_004415.3(DSP): c.4490G> A (p.Arg1497Gln) single nucleotide variant Uncertain significance rs727505037 GRCh37 Chromosome 6, 7580913: 7580913
21 DSP NM_004415.3(DSP): c.1743C> T (p.Ala581=) single nucleotide variant Conflicting interpretations of pathogenicity rs139095230 GRCh37 Chromosome 6, 7571657: 7571657
22 DSP NM_004415.3(DSP): c.1743C> T (p.Ala581=) single nucleotide variant Conflicting interpretations of pathogenicity rs139095230 GRCh38 Chromosome 6, 7571424: 7571424
23 DSP NM_004415.3(DSP): c.1920C> T (p.Ile640=) single nucleotide variant Benign/Likely benign rs74806300 GRCh37 Chromosome 6, 7572091: 7572091
24 DSP NM_004415.3(DSP): c.1920C> T (p.Ile640=) single nucleotide variant Benign/Likely benign rs74806300 GRCh38 Chromosome 6, 7571858: 7571858
25 DSP NM_004415.3(DSP): c.3650C> T (p.Thr1217Met) single nucleotide variant Conflicting interpretations of pathogenicity rs535202724 GRCh37 Chromosome 6, 7580073: 7580073
26 DSP NM_004415.3(DSP): c.3650C> T (p.Thr1217Met) single nucleotide variant Conflicting interpretations of pathogenicity rs535202724 GRCh38 Chromosome 6, 7579840: 7579840
27 DSP NM_004415.3(DSP): c.3923G> A (p.Arg1308Gln) single nucleotide variant Benign/Likely benign rs184154918 GRCh37 Chromosome 6, 7580346: 7580346
28 DSP NM_004415.3(DSP): c.3923G> A (p.Arg1308Gln) single nucleotide variant Benign/Likely benign rs184154918 GRCh38 Chromosome 6, 7580113: 7580113
29 DSP NM_004415.3(DSP): c.4105G> A (p.Glu1369Lys) single nucleotide variant Uncertain significance rs141805096 GRCh37 Chromosome 6, 7580528: 7580528
30 DSP NM_004415.3(DSP): c.4105G> A (p.Glu1369Lys) single nucleotide variant Uncertain significance rs141805096 GRCh38 Chromosome 6, 7580295: 7580295
31 DSP NM_004415.3(DSP): c.5178C> A (p.Asn1726Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147415451 GRCh37 Chromosome 6, 7581601: 7581601
32 DSP NM_004415.3(DSP): c.5178C> A (p.Asn1726Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147415451 GRCh38 Chromosome 6, 7581368: 7581368
33 DSP NM_004415.3(DSP): c.6351T> C (p.Asp2117=) single nucleotide variant Benign/Likely benign rs148743859 GRCh37 Chromosome 6, 7583846: 7583846
34 DSP NM_004415.3(DSP): c.6351T> C (p.Asp2117=) single nucleotide variant Benign/Likely benign rs148743859 GRCh38 Chromosome 6, 7583613: 7583613
35 DSP NM_004415.3(DSP): c.5304G> C (p.Gly1768=) single nucleotide variant Benign/Likely benign rs530612211 GRCh38 Chromosome 6, 7581494: 7581494
36 DSP NM_004415.3(DSP): c.5304G> C (p.Gly1768=) single nucleotide variant Benign/Likely benign rs530612211 GRCh37 Chromosome 6, 7581727: 7581727
37 DSP NM_004415.3(DSP): c.5523A> C (p.Ser1841=) single nucleotide variant Conflicting interpretations of pathogenicity rs730882116 GRCh37 Chromosome 6, 7583018: 7583018
38 DSP NM_004415.3(DSP): c.5523A> C (p.Ser1841=) single nucleotide variant Conflicting interpretations of pathogenicity rs730882116 GRCh38 Chromosome 6, 7582785: 7582785
39 DSP NM_004415.3(DSP): c.5554C> T (p.Arg1852Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs550818559 GRCh37 Chromosome 6, 7583049: 7583049
40 DSP NM_004415.3(DSP): c.5554C> T (p.Arg1852Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs550818559 GRCh38 Chromosome 6, 7582816: 7582816
41 DSP NM_004415.3(DSP): c.7916G> A (p.Arg2639Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs116888866 GRCh37 Chromosome 6, 7585411: 7585411
42 DSP NM_004415.3(DSP): c.7916G> A (p.Arg2639Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs116888866 GRCh38 Chromosome 6, 7585178: 7585178
43 DSP NM_004415.3(DSP): c.8191T> C (p.Tyr2731His) single nucleotide variant Conflicting interpretations of pathogenicity rs201397978 GRCh37 Chromosome 6, 7585686: 7585686
44 DSP NM_004415.3(DSP): c.8191T> C (p.Tyr2731His) single nucleotide variant Conflicting interpretations of pathogenicity rs201397978 GRCh38 Chromosome 6, 7585453: 7585453
45 DSP NM_004415.3(DSP): c.8487_8498delCCGCTCGGGATC (p.Ser2843_Arg2846del) deletion Conflicting interpretations of pathogenicity rs727504704 GRCh38 Chromosome 6, 7585749: 7585760
46 DSP NM_004415.3(DSP): c.8487_8498delCCGCTCGGGATC (p.Ser2843_Arg2846del) deletion Conflicting interpretations of pathogenicity rs727504704 GRCh37 Chromosome 6, 7585982: 7585993
47 DSP NM_004415.3(DSP): c.170+5G> A single nucleotide variant Uncertain significance rs727502996 GRCh37 Chromosome 6, 7542323: 7542323
48 DSP NM_004415.3(DSP): c.170+5G> A single nucleotide variant Uncertain significance rs727502996 GRCh38 Chromosome 6, 7542090: 7542090
49 DSP NM_004415.3(DSP): c.273+5G> A single nucleotide variant Uncertain significance rs200473206 GRCh37 Chromosome 6, 7556058: 7556058
50 DSP NM_004415.3(DSP): c.273+5G> A single nucleotide variant Uncertain significance rs200473206 GRCh38 Chromosome 6, 7555825: 7555825

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
11.89 DSP JUP PKP2
2 11.46 DSP JUP
3
Show member pathways
11.36 DSP PKP2
4
Show member pathways
11.33 DSP JUP PKP2 RYR2
5 10.88 DSP JUP RYR2
6 10.66 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 intermediate filament GO:0005882 9.54 DSP JUP PKP2
2 cell-cell junction GO:0005911 9.5 DSP JUP PKP2
3 Z disc GO:0030018 9.46 JUP RYR2
4 cell-cell adherens junction GO:0005913 9.43 JUP PKP2
5 adherens junction GO:0005912 9.4 JUP PKP2
6 cornified envelope GO:0001533 9.33 DSP JUP PKP2
7 fascia adherens GO:0005916 9.26 DSP JUP
8 intercalated disc GO:0014704 9.13 DSP JUP PKP2
9 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 12)
# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.63 DSP JUP PKP2
2 cell-cell adhesion GO:0098609 9.54 DSP JUP PKP2
3 wound healing GO:0042060 9.51 DSP TGFB3
4 cornification GO:0070268 9.5 DSP JUP PKP2
5 skin development GO:0043588 9.49 DSP JUP
6 adherens junction organization GO:0034332 9.48 DSP JUP
7 ventricular cardiac muscle cell action potential GO:0086005 9.43 PKP2 RYR2
8 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.4 PKP2 RYR2
9 regulation of heart rate by cardiac conduction GO:0086091 9.33 DSP JUP PKP2
10 desmosome assembly GO:0002159 9.26 JUP PKP2
11 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.13 DSP JUP PKP2
12 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 ion channel binding GO:0044325 9.37 PKP2 RYR2
2 cell adhesion molecule binding GO:0050839 9.32 DSP JUP
3 protein self-association GO:0043621 9.26 RYR2 TMEM43
4 protein kinase C binding GO:0005080 9.16 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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