ARVD8
MCID: ARR050
MIFTS: 38

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 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 heterogeneous autosomal dominant inheritance


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 skin, 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 : 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 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 35)
# 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 10.1 DSP JUP
8 cardiac conduction defect 10.0 DSP RYR2
9 woolly hair syndrome 10.0 DSP KRT74
10 middle lobe syndrome 10.0 JUP KRT74
11 palmoplantar keratosis 10.0 DSP JUP
12 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.0 DSP RYR2
13 ventricular fibrillation, paroxysmal familial, 1 10.0 DSP RYR2
14 cardiac arrhythmia 10.0 JUP RYR2
15 pemphigus vulgaris 10.0 DSP JUP
16 naxos disease 9.9 DSP JUP PKP2
17 atrial standstill 1 9.9 DSP JUP PKP2
18 hair disease 9.9 DSP KRT74
19 arrhythmogenic right ventricular dysplasia, familial, 4 9.9 PKP2 TGFB3
20 long qt syndrome 1 9.9 DSP PKP2 RYR2
21 brugada syndrome 9.9 JUP PKP2 TMEM43
22 left bundle branch hemiblock 9.8 JUP KRT74 PKP2
23 cardiac arrest 9.8 DSP RYR2
24 arrhythmogenic right ventricular dysplasia, familial, 2 9.8 JUP RYR2 TGFB3
25 arrhythmogenic right ventricular dysplasia, familial, 1 9.6 DSP JUP RYR2 TGFB3
26 intrinsic cardiomyopathy 9.6 DSP JUP PKP2 RYR2 TMEM43
27 dilated cardiomyopathy 9.6 DSP JUP PKP2 RYR2 TMEM43
28 heart disease 9.6 DSP PKP2 RYR2 TGFB3
29 left ventricular noncompaction 9.4 DSP JUP PKP2 RYR2 TGFB3
30 cardiomyopathy, dilated, with woolly hair and keratoderma 9.4 DSP JUP KRT74 PKP2 TGFB3
31 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.3 DSP JUP PKP2 RYR2 TGFB3 TMEM43
32 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.3 DSP JUP PKP2 RYR2 TGFB3 TMEM43
33 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.3 DSP JUP PKP2 RYR2 TGFB3 TMEM43
34 arrhythmogenic right ventricular cardiomyopathy 9.3 DSP JUP PKP2 RYR2 TGFB3 TMEM43
35 arrhythmogenic right ventricular dysplasia, familial, 9 9.2 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:
sudden cardiac death
cardiomyopathy, right ventricular
heart failure
ventricular arrhythmia (pvc, vt, and vf)


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 sudden cardiac death 32 HP:0001645
2 congestive heart failure 32 HP:0001635
3 ventricular tachycardia 32 HP:0004756
4 ventricular extrasystoles 32 HP:0006682
5 ventricular fibrillation 32 HP:0001663
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, Skin

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 1009)
# 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.6091_6092delTT (p.Leu2031Glyfs) deletion Uncertain significance rs397514040 GRCh37 Chromosome 6, 7583586: 7583587
4 DSP NM_004415.3(DSP): c.6091_6092delTT (p.Leu2031Glyfs) deletion Uncertain significance rs397514040 GRCh38 Chromosome 6, 7583353: 7583354
5 DSP NM_004415.3(DSP): c.88G> A (p.Val30Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121912998 GRCh37 Chromosome 6, 7542236: 7542236
6 DSP NM_004415.3(DSP): c.88G> A (p.Val30Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121912998 GRCh38 Chromosome 6, 7542003: 7542003
7 DSP NM_004415.3(DSP): c.8501G> A (p.Arg2834His) single nucleotide variant Pathogenic rs121912999 GRCh37 Chromosome 6, 7585996: 7585996
8 DSP NM_004415.3(DSP): c.8501G> A (p.Arg2834His) single nucleotide variant Pathogenic rs121912999 GRCh38 Chromosome 6, 7585763: 7585763
9 DSP NM_004415.3(DSP): c.105G> A (p.Gly35=) single nucleotide variant Benign/Likely benign rs77445784 GRCh37 Chromosome 6, 7542253: 7542253
10 DSP NM_004415.3(DSP): c.105G> A (p.Gly35=) single nucleotide variant Benign/Likely benign rs77445784 GRCh38 Chromosome 6, 7542020: 7542020
11 DSP NM_004415.3(DSP): c.1903+7T> C single nucleotide variant Benign/Likely benign rs28763962 GRCh37 Chromosome 6, 7571824: 7571824
12 DSP NM_004415.3(DSP): c.1903+7T> C single nucleotide variant Benign/Likely benign rs28763962 GRCh38 Chromosome 6, 7571591: 7571591
13 DSP NM_004415.3(DSP): c.2815G> A (p.Gly939Ser) single nucleotide variant Benign/Likely benign rs80325569 GRCh37 Chromosome 6, 7577213: 7577213
14 DSP NM_004415.3(DSP): c.2815G> A (p.Gly939Ser) single nucleotide variant Benign/Likely benign rs80325569 GRCh38 Chromosome 6, 7576980: 7576980
15 DSP NM_004415.3(DSP): c.4773G> A (p.Arg1591=) single nucleotide variant Benign/Likely benign rs28763968 GRCh37 Chromosome 6, 7581196: 7581196
16 DSP NM_004415.3(DSP): c.4773G> A (p.Arg1591=) single nucleotide variant Benign/Likely benign rs28763968 GRCh38 Chromosome 6, 7580963: 7580963
17 DSP NM_004415.3(DSP): c.5555G> A (p.Arg1852His) single nucleotide variant Conflicting interpretations of pathogenicity rs193922669 GRCh37 Chromosome 6, 7583050: 7583050
18 DSP NM_004415.3(DSP): c.5555G> A (p.Arg1852His) single nucleotide variant Conflicting interpretations of pathogenicity rs193922669 GRCh38 Chromosome 6, 7582817: 7582817
19 DSP NM_004415.3(DSP): c.8301C> G (p.Thr2767=) single nucleotide variant Benign/Likely benign rs145362059 GRCh37 Chromosome 6, 7585796: 7585796
20 DSP NM_004415.3(DSP): c.8301C> G (p.Thr2767=) single nucleotide variant Benign/Likely benign rs145362059 GRCh38 Chromosome 6, 7585563: 7585563
21 DSP NM_004415.3(DSP): c.913A> T (p.Ile305Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs17604693 GRCh37 Chromosome 6, 7565727: 7565727
22 DSP NM_004415.3(DSP): c.913A> T (p.Ile305Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs17604693 GRCh38 Chromosome 6, 7565494: 7565494
23 DSP NM_004415.3(DSP): c.*9T> A single nucleotide variant Benign/Likely benign rs11558732 GRCh37 Chromosome 6, 7586120: 7586120
24 DSP NM_004415.3(DSP): c.*9T> A single nucleotide variant Benign/Likely benign rs11558732 GRCh38 Chromosome 6, 7585887: 7585887
25 DSP NM_004415.3(DSP): c.1112A> C (p.His371Pro) single nucleotide variant Uncertain significance rs397516912 GRCh37 Chromosome 6, 7567654: 7567654
26 DSP NM_004415.3(DSP): c.1112A> C (p.His371Pro) single nucleotide variant Uncertain significance rs397516912 GRCh38 Chromosome 6, 7567421: 7567421
27 DSP NM_004415.3(DSP): c.1266+6G> T single nucleotide variant Benign/Likely benign rs73375345 GRCh37 Chromosome 6, 7568145: 7568145
28 DSP NM_004415.3(DSP): c.1266+6G> T single nucleotide variant Benign/Likely benign rs73375345 GRCh38 Chromosome 6, 7567912: 7567912
29 DSP NM_004415.3(DSP): c.12C> G (p.Asn4Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs368802003 GRCh37 Chromosome 6, 7542160: 7542160
30 DSP NM_004415.3(DSP): c.12C> G (p.Asn4Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs368802003 GRCh38 Chromosome 6, 7541927: 7541927
31 DSP NM_004415.3(DSP): c.1481A> T (p.Tyr494Phe) single nucleotide variant Benign/Likely benign rs28763961 GRCh37 Chromosome 6, 7569480: 7569480
32 DSP NM_004415.3(DSP): c.1481A> T (p.Tyr494Phe) single nucleotide variant Benign/Likely benign rs28763961 GRCh38 Chromosome 6, 7569247: 7569247
33 DSP NM_004415.3(DSP): c.1488G> A (p.Thr496=) single nucleotide variant Benign/Likely benign rs35820473 GRCh37 Chromosome 6, 7569487: 7569487
34 DSP NM_004415.3(DSP): c.1488G> A (p.Thr496=) single nucleotide variant Benign/Likely benign rs35820473 GRCh38 Chromosome 6, 7569254: 7569254
35 DSP NM_004415.3(DSP): c.157T> G (p.Ser53Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs397516918 GRCh37 Chromosome 6, 7542305: 7542305
36 DSP NM_004415.3(DSP): c.157T> G (p.Ser53Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs397516918 GRCh38 Chromosome 6, 7542072: 7542072
37 DSP NM_004415.3(DSP): c.1778A> G (p.Asn593Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34239595 GRCh37 Chromosome 6, 7571692: 7571692
38 DSP NM_004415.3(DSP): c.1778A> G (p.Asn593Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34239595 GRCh38 Chromosome 6, 7571459: 7571459
39 DSP NM_004415.3(DSP): c.1949A> G (p.Asn650Ser) single nucleotide variant Uncertain significance rs145650440 GRCh37 Chromosome 6, 7572120: 7572120
40 DSP NM_004415.3(DSP): c.1949A> G (p.Asn650Ser) single nucleotide variant Uncertain significance rs145650440 GRCh38 Chromosome 6, 7571887: 7571887
41 DSP NM_004415.3(DSP): c.2134G> A (p.Val712Met) single nucleotide variant Uncertain significance rs397516922 GRCh37 Chromosome 6, 7574322: 7574322
42 DSP NM_004415.3(DSP): c.2134G> A (p.Val712Met) single nucleotide variant Uncertain significance rs397516922 GRCh38 Chromosome 6, 7574089: 7574089
43 DSP NM_004415.3(DSP): c.2346C> T (p.Asp782=) single nucleotide variant Benign/Likely benign rs139071827 GRCh37 Chromosome 6, 7574938: 7574938
44 DSP NM_004415.3(DSP): c.2346C> T (p.Asp782=) single nucleotide variant Benign/Likely benign rs139071827 GRCh38 Chromosome 6, 7574705: 7574705
45 DSP NM_004415.3(DSP): c.2422C> T (p.Arg808Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150339369 GRCh37 Chromosome 6, 7575014: 7575014
46 DSP NM_004415.3(DSP): c.2422C> T (p.Arg808Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150339369 GRCh38 Chromosome 6, 7574781: 7574781
47 DSP NM_004415.3(DSP): c.2422C> T (p.Arg808Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150339369 NCBI36 Chromosome 6, 7520013: 7520013
48 DSP NM_004415.3(DSP): c.242G> A (p.Cys81Tyr) single nucleotide variant Uncertain significance rs140965835 GRCh37 Chromosome 6, 7556022: 7556022
49 DSP NM_004415.3(DSP): c.242G> A (p.Cys81Tyr) single nucleotide variant Uncertain significance rs140965835 GRCh38 Chromosome 6, 7555789: 7555789
50 DSP NM_004415.3(DSP): c.2596C> T (p.Arg866Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142429411 GRCh37 Chromosome 6, 7575687: 7575687

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 cell-cell adherens junction GO:0005913 9.43 JUP PKP2
3 cornified envelope GO:0001533 9.43 DSP JUP PKP2
4 adherens junction GO:0005912 9.4 JUP PKP2
5 intercalated disc GO:0014704 9.33 DSP JUP PKP2
6 fascia adherens GO:0005916 9.32 DSP JUP
7 intermediate filament GO:0005882 9.26 DSP JUP KRT74 PKP2
8 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 13)
# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.62 DSP JUP KRT74 PKP2
2 cell-cell adhesion GO:0098609 9.61 DSP JUP PKP2
3 wound healing GO:0042060 9.52 DSP TGFB3
4 skin development GO:0043588 9.51 DSP JUP
5 adherens junction organization GO:0034332 9.49 DSP JUP
6 intermediate filament cytoskeleton organization GO:0045104 9.48 DSP KRT74
7 ventricular cardiac muscle cell action potential GO:0086005 9.46 PKP2 RYR2
8 cornification GO:0070268 9.46 DSP JUP KRT74 PKP2
9 regulation of heart rate by cardiac conduction GO:0086091 9.43 DSP JUP PKP2
10 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.4 PKP2 RYR2
11 desmosome assembly GO:0002159 9.37 JUP PKP2
12 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.13 DSP JUP PKP2
13 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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