ARVD8
MCID: ARR050
MIFTS: 47

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 72 70
Arrhythmogenic Right Ventricular Dysplasia 8 57 12 29 13 6 15
Arrhythmogenic Right Ventricular Cardiomyopathy 8 57 12 72
Arvd8 57 12 72
Arvc8 57 12 72
Arrhythmogenic Right Ventricular Cardiomyopathy 8; Arvc8 57
Familial Arrhythmogenic Right Ventricular Dysplasia 8 12
Dysplasia, Ventricular, Right, Arrhythmogenic, Type 8 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

31
arrhythmogenic right ventricular dysplasia, familial, 8:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0110076
OMIM® 57 607450
OMIM Phenotypic Series 57 PS107970
MeSH 44 D019571
ICD10 32 I42.8
MedGen 41 C1843896
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Arrhythmogenic Right Ventricular Dysplasia, Familial, 8, also known as arrhythmogenic right ventricular dysplasia 8, is related to ventricular fibrillation, paroxysmal familial, 1 and subcorneal pustular dermatosis. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 is DSP (Desmoplakin), and among its related pathways/superpathways are Developmental Biology and Keratinization. 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 : 72 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 Arrhythmogenic Right Ventricular Dysplasia, Familial, 14

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

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 ventricular fibrillation, paroxysmal familial, 1 10.0 RYR2 DSP
2 subcorneal pustular dermatosis 10.0 DSP DSC3
3 right bundle branch block 10.0 PKP2 DSG2
4 lmna-related dilated cardiomyopathy 10.0 DSP DSC2
5 dystonia 3, torsion, x-linked 10.0 DSC3 DSC2
6 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.9 RYR2 PKP2 DSP
7 impetigo 9.9 DSG2 DSC3
8 restrictive cardiomyopathy 9.9 PKP2 DSP DSG2
9 grover's disease 9.9 JUP DSP
10 cardiac conduction defect 9.9 RYR2 DSP DSG2
11 epidermolysis bullosa, lethal acantholytic 9.9 JUP DSP
12 cardiomyopathy, dilated, 1h 9.9 TMEM43 DSP DSC2
13 left ventricular noncompaction 1 9.9 PKP2 JUP
14 long qt syndrome 2 9.9 RYR2 PKP2
15 diffuse palmoplantar keratoderma 9.9 JUP DSP
16 cardiomyopathy, dilated, 1a 9.9 TMEM43 DSP DSC2
17 cardiac arrest 9.9 RYR2 DSP DSG2
18 familial atrial fibrillation 9.8 RYR2 PKP2 DSG2
19 progressive familial heart block 9.8 RYR2 DSP
20 familial isolated arrhythmogenic right ventricular dysplasia 9.7 TMEM43 PKP2 DSP DSC2
21 palmoplantar keratoderma and woolly hair 9.7 JUP DSP DSC2
22 ectodermal dysplasia/skin fragility syndrome 9.7 JUP DSP DSC2
23 long qt syndrome 1 9.7 RYR2 PKP2 DSP DSG2
24 ritter's disease 9.7 DSP DSG2 DSC3 DSC2
25 paraneoplastic pemphigus 9.7 DSP DSG2 DSC3 DSC2
26 bullous skin disease 9.7 DSP DSG2 DSC3 DSC2
27 benign chronic pemphigus 9.6 JUP DSP DSC3
28 arrhythmogenic right ventricular dysplasia, familial, 13 9.6 TGFB3 RYR2 PKP2 DSP
29 cardiac arrhythmia 9.5 RYR2 PKP2 JUP DSP
30 darier-white disease 9.5 JUP DSP DSC3 DSC2
31 pemphigus vulgaris, familial 9.4 JUP DSP DSG2 DSC3
32 left bundle branch hemiblock 9.3 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
33 intrinsic cardiomyopathy 9.3 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
34 catecholaminergic polymorphic ventricular tachycardia 9.3 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
35 heart conduction disease 9.3 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
36 long qt syndrome 9.3 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
37 pemphigus 9.3 JUP DSP DSG2 DSC3 DSC2
38 arrhythmogenic right ventricular dysplasia, familial, 3 9.2 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
39 arrhythmogenic right ventricular dysplasia, familial, 1 9.2 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
40 palmoplantar keratosis 9.1 PKP2 JUP DSP DSG2 DSC3 DSC2
41 atrial standstill 1 8.8 TMEM43 RYR2 PKP2 JUP DSP DSG2
42 arrhythmogenic right ventricular dysplasia, familial, 2 8.7 TMEM43 TGFB3 RYR2 PKP2 DSP DSG2
43 palmoplantar keratoderma, nonepidermolytic 8.6 TMEM43 RYR2 PKP2 JUP DSP DSG2
44 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 8.5 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
45 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 8.5 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
46 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 8.5 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
47 arrhythmogenic right ventricular dysplasia, familial, 6 8.5 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
48 arrhythmogenic right ventricular dysplasia, familial, 4 8.5 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
49 arrhythmogenic right ventricular cardiomyopathy 8.5 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
50 hypertrophic cardiomyopathy 8.5 TMEM43 TGFB3 RYR2 PKP2 JUP DSP

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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 31 HP:0001645
2 congestive heart failure 31 HP:0001635
3 ventricular extrasystoles 31 HP:0006682
4 ventricular tachycardia 31 HP:0004756
5 ventricular fibrillation 31 HP:0001663
6 right ventricular cardiomyopathy 31 HP:0011663

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
sudden cardiac death
cardiomyopathy, right ventricular
heart failure
ventricular arrhythmia (pvc, vt, and vf)

Clinical features from OMIM®:

607450 (Updated 20-May-2021)

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 9.76 DSC2 DSG2 DSP JUP PKP2 RYR2
2 mortality/aging MP:0010768 9.56 DSC3 DSG2 DSP JUP PKP2 RYR2
3 muscle MP:0005369 9.02 DSG2 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 Dysplasia 8 29 DSP

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

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

40
Heart, Skin

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Articles related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:

(show all 43)
# Title Authors PMID Year
1
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. 6 57
20864495 2010
2
Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. 6 57
16917092 2006
3
Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. 6 57
12373648 2002
4
Patient mutations linked to arrhythmogenic cardiomyopathy enhance calpain-mediated desmoplakin degradation. 6
31194698 2019
5
Phenotypic Characterization of Individuals With Variants in Cardiovascular Genes in the Absence of a Primary Cardiovascular Indication for Testing. 6
30919684 2019
6
A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy. 6
29892087 2019
7
Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series. 6
29915097 2018
8
Desmoplakin interacts with the coil 1 of different types of intermediate filament proteins and displays high affinity for assembled intermediate filaments. 6
30286183 2018
9
Applying High-Resolution Variant Classification to Cardiac Arrhythmogenic Gene Testing in a Demographically Diverse Cohort of Sudden Unexplained Deaths. 6
29247119 2017
10
Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation. 6
28527814 2017
11
Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy. 6
28416588 2017
12
Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis. 6
27194543 2017
13
Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations. 6
28442525 2017
14
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 6
27532257 2017
15
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. 6
27831900 2016
16
Novel truncating desmoplakin mutation as a potential cause of sudden cardiac death in a family. 6
27698334 2016
17
Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. 6
26899768 2016
18
Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. 6
26735901 2016
19
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. 6
26187847 2015
20
Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members. 6
25820315 2015
21
Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers. 6
25616645 2015
22
Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy. 6
25227139 2015
23
Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin. 6
25516398 2015
24
Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy. 6
25157032 2014
25
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 6
24503780 2014
26
Novel compound heterozygous mutations in the desmoplakin gene cause hair shaft abnormalities and culminate in lethal cardiomyopathy. 6
24825141 2014
27
Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy. 6
24070718 2013
28
Correlation of ventricular arrhythmias with genotype in arrhythmogenic right ventricular cardiomyopathy. 6
24125834 2013
29
TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations. 6
23812740 2013
30
Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 6
23810894 2013
31
Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 6
23671136 2013
32
Pediatric cardiomyopathy: importance of genetic and metabolic evaluation. 6
22555271 2012
33
Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study. 6
21859740 2011
34
Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria. 6
21606390 2011
35
Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. 6
20716751 2010
36
Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. 6
20400443 2010
37
A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. 6
19279339 2009
38
Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. 6
19095136 2008
39
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. 6
16175511 2005
40
Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. 6
16061754 2005
41
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. 6
11063735 2000
42
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. 6
10594734 1999
43
Genetic bases of arrhythmogenic right ventricular Cardiomyopathy. 61
21977247 2006

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

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

6 (show top 50) (show all 1273)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DSP NM_004415.4(DSP):c.897C>G (p.Ser299Arg) SNV Pathogenic 16838 rs121912992 GRCh37: 6:7565711-7565711
GRCh38: 6:7565478-7565478
2 DSP NM_004415.4(DSP):c.8501G>A (p.Arg2834His) SNV Pathogenic 16847 rs121912999 GRCh37: 6:7585996-7585996
GRCh38: 6:7585763-7585763
3 DSP NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter) SNV Pathogenic 246677 rs879254353 GRCh37: 6:7585665-7585665
GRCh38: 6:7585432-7585432
4 DSP NM_004415.4(DSP):c.8077_8080del (p.Lys2693fs) Deletion Pathogenic 246676 rs879254352 GRCh37: 6:7585570-7585573
GRCh38: 6:7585337-7585340
5 DSP NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) Deletion Pathogenic 405232 rs774763657 GRCh37: 6:7583174-7583177
GRCh38: 6:7582941-7582944
6 DSP NM_004415.4(DSP):c.268C>T (p.Gln90Ter) SNV Pathogenic 265102 rs886039343 GRCh37: 6:7556048-7556048
GRCh38: 6:7555815-7555815
7 DSP NM_004415.4(DSP):c.2602C>T (p.Gln868Ter) SNV Pathogenic 405248 rs1060500618 GRCh37: 6:7575693-7575693
GRCh38: 6:7575460-7575460
8 DSP NM_004415.4(DSP):c.5745dup (p.Lys1916Ter) Duplication Pathogenic 405223 rs1060500607 GRCh37: 6:7583239-7583240
GRCh38: 6:7583006-7583007
9 DSP NM_004415.4(DSP):c.1883del (p.Gly628fs) Deletion Pathogenic 405237 rs1060500613 GRCh37: 6:7571796-7571796
GRCh38: 6:7571563-7571563
10 DSP NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) Duplication Pathogenic 199923 rs1554108152 GRCh37: 6:7580155-7580156
GRCh38: 6:7579922-7579923
11 DSP NM_004415.4(DSP):c.4822C>T (p.Gln1608Ter) SNV Pathogenic 405234 rs1060500610 GRCh37: 6:7581245-7581245
GRCh38: 6:7581012-7581012
12 DSP NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter) SNV Pathogenic 44914 rs397516940 GRCh37: 6:7580954-7580954
GRCh38: 6:7580721-7580721
13 DSP NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter) SNV Pathogenic 222582 rs869025395 GRCh37: 6:7583346-7583346
GRCh38: 6:7583113-7583113
14 DSP NM_004415.4(DSP):c.5460dup (p.Val1821fs) Duplication Pathogenic 464966 rs1554108609 GRCh37: 6:7582952-7582953
GRCh38: 6:7582719-7582720
15 DSP NM_004415.4(DSP):c.2947_2948del (p.Thr983fs) Deletion Pathogenic 464959 rs1554107839 GRCh37: 6:7578081-7578082
GRCh38: 6:7577848-7577849
16 DSP NM_004415.4(DSP):c.1058_1059CT[1] (p.Leu354fs) Microsatellite Pathogenic 464956 rs1249913357 GRCh37: 6:7567600-7567601
GRCh38: 6:7567367-7567368
17 DSP NM_004415.4(DSP):c.3348T>A (p.Tyr1116Ter) SNV Pathogenic 464962 rs772646601 GRCh37: 6:7579771-7579771
GRCh38: 6:7579538-7579538
18 DSP NM_004415.4(DSP):c.465del (p.Ile156fs) Deletion Pathogenic 464964 rs1554105911 GRCh37: 6:7559500-7559500
GRCh38: 6:7559267-7559267
19 DSP NM_004415.4(DSP):c.699G>A (p.Trp233Ter) SNV Pathogenic 44946 rs397516955 GRCh37: 6:7562986-7562986
GRCh38: 6:7562753-7562753
20 DSP NM_004415.4(DSP):c.1162del (p.Thr388fs) Deletion Pathogenic 464957 rs1554106742 GRCh37: 6:7568035-7568035
GRCh38: 6:7567802-7567802
21 DSP NM_004415.4(DSP):c.3044_3047dup (p.Phe1016fs) Duplication Pathogenic 464960 rs1554107916 GRCh37: 6:7578754-7578755
GRCh38: 6:7578521-7578522
22 DSP NM_004415.4(DSP):c.5460_5466del (p.Val1821fs) Deletion Pathogenic 464965 rs1554108610 GRCh37: 6:7582955-7582961
GRCh38: 6:7582722-7582728
23 DSP NM_004415.4(DSP):c.5665_5666GA[4] (p.Lys1892fs) Microsatellite Pathogenic 464968 rs1487814687 GRCh37: 6:7583160-7583161
GRCh38: 6:7582927-7582928
24 DSP NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) Deletion Pathogenic 16844 rs397514040 GRCh37: 6:7583585-7583586
GRCh38: 6:7583352-7583353
25 DSP NM_004415.4(DSP):c.1182del (p.Leu395fs) Deletion Pathogenic 464958 rs1554106743 GRCh37: 6:7568052-7568052
GRCh38: 6:7567819-7567819
26 DSP NM_004415.4(DSP):c.928dup (p.Glu310fs) Duplication Pathogenic 199916 rs794728137 GRCh37: 6:7565740-7565741
GRCh38: 6:7565507-7565508
27 DSP NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter) SNV Pathogenic 534275 rs1554108477 GRCh37: 6:7581692-7581692
GRCh38: 6:7581459-7581459
28 DSP NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter) SNV Pathogenic 534281 rs1236464864 GRCh37: 6:7580818-7580818
GRCh38: 6:7580585-7580585
29 DSP NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter) SNV Pathogenic 534283 rs28763965 GRCh37: 6:7580795-7580795
GRCh38: 6:7580562-7580562
30 DSP NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs) Indel Pathogenic 452266 rs1554108410 GRCh37: 6:7581305-7581309
GRCh38: 6:7581072-7581076
31 DSP NM_004415.4(DSP):c.6581_6582CA[1] (p.His2195fs) Microsatellite Pathogenic 565543 rs1561702771 GRCh37: 6:7584076-7584077
GRCh38: 6:7583843-7583844
32 DSP NM_004415.4(DSP):c.1282dup (p.Ile428fs) Duplication Pathogenic 565816 rs1561687796 GRCh37: 6:7568681-7568682
GRCh38: 6:7568448-7568449
33 DSP NM_004415.4(DSP):c.329_330delinsAA (p.Cys110Ter) Indel Pathogenic 566602 rs1561680649 GRCh37: 6:7558404-7558405
GRCh38: 6:7558171-7558172
34 DSP NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) SNV Pathogenic 199903 rs141026028 GRCh37: 6:7583991-7583991
GRCh38: 6:7583758-7583758
35 DSP NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) SNV Pathogenic 199890 rs794728124 GRCh37: 6:7581635-7581635
GRCh38: 6:7581402-7581402
36 DSP NM_004415.4(DSP):c.3241G>T (p.Glu1081Ter) SNV Pathogenic 489339 rs1554108050 GRCh37: 6:7579664-7579664
GRCh38: 6:7579431-7579431
37 DSP NM_004415.4(DSP):c.5771_5772CA[1] (p.Gln1925fs) Microsatellite Pathogenic 569376 rs1561701401 GRCh37: 6:7583265-7583266
GRCh38: 6:7583032-7583033
38 DSP NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs) Deletion Pathogenic 570298 rs1561698362 GRCh37: 6:7580458-7580462
GRCh38: 6:7580225-7580229
39 DSP NM_004415.4(DSP):c.3290_3291dup (p.Asp1098Ter) Duplication Pathogenic 570474 rs1561697181 GRCh37: 6:7579712-7579713
GRCh38: 6:7579479-7579480
40 DSP NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter) SNV Pathogenic 162505 rs140474226 GRCh37: 6:7580603-7580603
GRCh38: 6:7580370-7580370
41 DSP NM_004415.4(DSP):c.7075del (p.Ile2359fs) Deletion Pathogenic 571455 rs1561703363 GRCh37: 6:7584570-7584570
GRCh38: 6:7584337-7584337
42 DSP NM_004415.4(DSP):c.2497C>T (p.Gln833Ter) SNV Pathogenic 572718 rs1561693779 GRCh37: 6:7575588-7575588
GRCh38: 6:7575355-7575355
43 DSP NM_004415.4(DSP):c.3126_3127delinsT (p.Arg1042fs) Indel Pathogenic 572780 rs1561696970 GRCh37: 6:7579549-7579550
GRCh38: 6:7579316-7579317
44 DSP NM_004415.4(DSP):c.7872_7873CA[1] (p.Thr2625fs) Microsatellite Pathogenic 574161 rs1561704475 GRCh37: 6:7585366-7585367
GRCh38: 6:7585133-7585134
45 DSP NM_004415.4(DSP):c.4357C>T (p.Gln1453Ter) SNV Pathogenic 576091 rs1561698750 GRCh37: 6:7580780-7580780
GRCh38: 6:7580547-7580547
46 DSP NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) SNV Pathogenic 180326 rs730880082 GRCh37: 6:7577219-7577219
GRCh38: 6:7576986-7576986
47 DSP NM_004415.4(DSP):c.6466dup (p.Arg2156fs) Duplication Pathogenic 419496 rs1554108859 GRCh37: 6:7583960-7583961
GRCh38: 6:7583727-7583728
48 DSP NM_004415.4(DSP):c.5550_5557delinsGTG (p.Gln1851fs) Indel Pathogenic 199924 rs1554108621 GRCh37: 6:7583045-7583052
GRCh38: 6:7582812-7582819
49 DSP NM_004415.4(DSP):c.2725C>T (p.Gln909Ter) SNV Pathogenic 577561 rs1561694696 GRCh37: 6:7576621-7576621
GRCh38: 6:7576388-7576388
50 DSP NM_004415.4(DSP):c.7240G>T (p.Gly2414Ter) SNV Pathogenic 579962 rs1194358112 GRCh37: 6:7584735-7584735
GRCh38: 6:7584502-7584502

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

72
# Symbol AA change Variation ID SNP ID
1 DSP p.Arg1255Lys VAR_023814 rs777407386
2 DSP p.Ile445Val VAR_065693 rs934142779

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
12.95 PKP2 JUP DSP DSG2 DSC3 DSC2
2
Show member pathways
11.89 PKP2 JUP DSP DSG2 DSC3 DSC2
3 11.29 RYR2 PKP2 JUP DSP DSG2 DSC2
4 11.08 RYR2 JUP DSP
5 10.83 JUP DSP

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 plasma membrane GO:0005886 10.01 TGFB3 RYR2 PKP2 JUP DSP DSG2
2 cell junction GO:0030054 9.8 PKP2 JUP DSP DSG2 DSC3 DSC2
3 cell-cell junction GO:0005911 9.73 PKP2 JUP DSP DSG2 DSC3 DSC2
4 intermediate filament GO:0005882 9.63 PKP2 JUP DSP
5 adherens junction GO:0005912 9.61 PKP2 JUP DSC2
6 intercalated disc GO:0014704 9.55 PKP2 JUP DSP DSG2 DSC2
7 lateral plasma membrane GO:0016328 9.48 JUP DSG2
8 cornified envelope GO:0001533 9.43 PKP2 JUP DSP DSG2 DSC3 DSC2
9 fascia adherens GO:0005916 9.37 JUP DSP
10 desmosome GO:0030057 9.1 PKP2 JUP DSP DSG2 DSC3 DSC2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.85 PKP2 JUP DSG2 DSC3 DSC2
2 keratinization GO:0031424 9.85 PKP2 JUP DSP DSG2 DSC3 DSC2
3 cell-cell adhesion GO:0098609 9.8 PKP2 JUP DSP DSG2 DSC3 DSC2
4 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.69 DSG2 DSC3 DSC2
5 regulation of heart rate by cardiac conduction GO:0086091 9.65 PKP2 JUP DSP DSG2 DSC2
6 cornification GO:0070268 9.63 PKP2 JUP DSP DSG2 DSC3 DSC2
7 desmosome organization GO:0002934 9.58 PKP2 DSP DSG2
8 skin development GO:0043588 9.55 JUP DSP
9 adherens junction organization GO:0034332 9.54 JUP DSP
10 response to progesterone GO:0032570 9.52 TGFB3 DSG2
11 ventricular cardiac muscle cell action potential GO:0086005 9.49 RYR2 PKP2
12 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.48 RYR2 PKP2
13 desmosome assembly GO:0002159 9.43 PKP2 JUP
14 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.35 PKP2 JUP DSP DSG2 DSC2
15 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.1 RYR2 PKP2 JUP DSP DSG2 DSC2

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.56 RYR2 DSG2 DSC3 DSC2
2 protein kinase C binding GO:0005080 9.32 PKP2 DSP
3 alpha-catenin binding GO:0045294 9.16 PKP2 JUP
4 cell adhesion molecule binding GO:0050839 9.13 JUP DSP DSG2
5 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.02 PKP2 JUP DSP DSG2 DSC2

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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