MCID: FML279
MIFTS: 28

Familial Isolated Arrhythmogenic Right Ventricular Dysplasia

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Familial Isolated Arrhythmogenic Right Ventricular Dysplasia

MalaCards integrated aliases for Familial Isolated Arrhythmogenic Right Ventricular Dysplasia:

Name: Familial Isolated Arrhythmogenic Right Ventricular Dysplasia 58 29 6
Familial Isolated Arrhythmogenic Right Ventricular Cardiomyopathy 58
Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy 58
Familial Isolated Arrhythmogenic Ventricular Dysplasia 58
Familial Isolated Arvc 58
Familial Isolated Arvd 58

Characteristics:

Orphanet epidemiological data:

58

Classifications:



External Ids:

ICD10 via Orphanet 33 I42.8
Orphanet 58 ORPHA217656

Summaries for Familial Isolated Arrhythmogenic Right Ventricular Dysplasia

MalaCards based summary : Familial Isolated Arrhythmogenic Right Ventricular Dysplasia, also known as familial isolated arrhythmogenic right ventricular cardiomyopathy, is related to familial isolated arrhythmogenic ventricular dysplasia, right dominant form and familial isolated arrhythmogenic ventricular dysplasia, left dominant form. An important gene associated with Familial Isolated Arrhythmogenic Right Ventricular Dysplasia is PKP2 (Plakophilin 2), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include heart, and related phenotypes are cardiovascular system and muscle

Related Diseases for Familial Isolated Arrhythmogenic Right Ventricular Dysplasia

Diseases in the Familial Isolated Arrhythmogenic Right Ventricular Dysplasia family:

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form

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

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 31.4 TMEM43 PKP2 DSP DSC2
2 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 31.1 TMEM43 PKP2 DSP DSC2
3 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 31.1 TMEM43 PKP2 DSP DSC2
4 left ventricular noncompaction 1 10.1 SCN5A PKP2
5 right bundle branch block 10.0 SCN5A PKP2
6 mitochondrial dna depletion syndrome 12b 10.0 SCN5A BAG3
7 arrhythmogenic right ventricular dysplasia, familial, 13 10.0 PKP2 DSP
8 progressive familial heart block, type ia 9.9 SCN5A DSP
9 progressive familial heart block 9.9 SCN5A DSP
10 palmoplantar keratoderma and woolly hair 9.9 DSP DSC2
11 ectodermal dysplasia/skin fragility syndrome 9.9 DSP DSC2
12 ventricular fibrillation, paroxysmal familial, 1 9.9 SCN5A DSP
13 ritter's disease 9.9 DSP DSC2
14 cardiac conduction defect 9.9 SCN5A DSP
15 long qt syndrome 2 9.9 SCN5A PKP2
16 paraneoplastic pemphigus 9.9 DSP DSC2
17 pemphigus 9.9 DSP DSC2
18 darier-white disease 9.8 DSP DSC2
19 familial long qt syndrome 9.8 SCN5A DSP
20 bullous skin disease 9.8 DSP DSC2
21 ebstein anomaly 9.8 TMEM43 SCN5A
22 arrhythmogenic right ventricular dysplasia, familial, 1 9.8 PKP2 DSP DSC2
23 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.8 SCN5A PKP2 DSP
24 cardiac arrhythmia 9.7 SCN5A PKP2 DSP
25 cardiomyopathy, dilated, 1e 9.7 SCN5A PKP2 DSP
26 arrhythmogenic right ventricular dysplasia, familial, 3 9.7 PKP2 DSP DSC2
27 long qt syndrome 1 9.7 SCN5A PKP2 DSP
28 palmoplantar keratosis 9.7 PKP2 DSP DSC2
29 cardiomyopathy, dilated, 1b 9.7 SCN5A DSP BAG3
30 hair disease 9.7 DSP DSC2
31 lmna-related dilated cardiomyopathy 9.7 DSP DSC2 BAG3
32 arrhythmogenic right ventricular dysplasia, familial, 12 9.6 TMEM43 PKP2 DSC2
33 cardiac arrest 9.6 SCN5A DSP
34 arrhythmogenic right ventricular dysplasia, familial, 4 9.3 TMEM43 PKP2 DSP DSC2
35 arrhythmogenic right ventricular dysplasia, familial, 6 9.3 TMEM43 PKP2 DSP DSC2
36 arrhythmogenic right ventricular dysplasia, familial, 5 9.3 TMEM43 PKP2 DSP DSC2
37 arrhythmogenic right ventricular dysplasia, familial, 9 9.3 TMEM43 PKP2 DSP DSC2
38 arrhythmogenic right ventricular dysplasia, familial, 2 9.3 TMEM43 PKP2 DSP DSC2
39 arrhythmogenic right ventricular dysplasia, familial, 8 9.3 TMEM43 PKP2 DSP DSC2
40 arrhythmogenic right ventricular dysplasia, familial, 11 9.3 TMEM43 PKP2 DSP DSC2
41 arrhythmogenic right ventricular dysplasia, familial, 10 9.3 TMEM43 PKP2 DSP DSC2
42 cardiomyopathy, dilated, with woolly hair and keratoderma 9.3 TMEM43 PKP2 DSP DSC2
43 naxos disease 9.3 TMEM43 PKP2 DSP DSC2
44 palmoplantar keratoderma, nonepidermolytic 9.3 TMEM43 PKP2 DSP DSC2
45 familial woolly hair syndrome 9.3 TMEM43 PKP2 DSP DSC2
46 cardiomyopathy, dilated, 1h 9.2 TMEM43 DSP DSC2 BAG3
47 cardiomyopathy, dilated, 1a 9.2 TMEM43 DSP DSC2 BAG3
48 left bundle branch hemiblock 9.1 TMEM43 SCN5A PKP2 DSP DSC2
49 intrinsic cardiomyopathy 9.1 TMEM43 SCN5A PKP2 DSP DSC2
50 catecholaminergic polymorphic ventricular tachycardia 9.1 TMEM43 SCN5A PKP2 DSP DSC2

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



Diseases related to Familial Isolated Arrhythmogenic Right Ventricular Dysplasia

Symptoms & Phenotypes for Familial Isolated Arrhythmogenic Right Ventricular Dysplasia

MGI Mouse Phenotypes related to Familial Isolated Arrhythmogenic Right Ventricular Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 BAG3 DSC2 DSP PKP2 SCN5A TMEM43
2 muscle MP:0005369 8.92 BAG3 DSP PKP2 SCN5A

Drugs & Therapeutics for Familial Isolated Arrhythmogenic Right Ventricular Dysplasia

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

Genetic Tests for Familial Isolated Arrhythmogenic Right Ventricular Dysplasia

Genetic tests related to Familial Isolated Arrhythmogenic Right Ventricular Dysplasia:

# Genetic test Affiliating Genes
1 Familial Isolated Arrhythmogenic Right Ventricular Dysplasia 29

Anatomical Context for Familial Isolated Arrhythmogenic Right Ventricular Dysplasia

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

40
Heart

Publications for Familial Isolated Arrhythmogenic Right Ventricular Dysplasia

Articles related to Familial Isolated Arrhythmogenic Right Ventricular Dysplasia:

# Title Authors PMID Year
1
Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis. 6
28069705 2017

Variations for Familial Isolated Arrhythmogenic Right Ventricular Dysplasia

ClinVar genetic disease variations for Familial Isolated Arrhythmogenic Right Ventricular Dysplasia:

6 (show all 25)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN5A NM_198056.2(SCN5A):c.2184_2186del (p.Leu729del) Deletion Pathogenic 403732 rs1060499940 3:38639296-38639298 3:38597805-38597807
2 SCN5A NM_198056.2(SCN5A):c.6048G>A (p.Val2016=) SNV Pathogenic 403733 rs1060499941 3:38591815-38591815 3:38550324-38550324
3 SCN5A NM_198056.2(SCN5A):c.4867C>T (p.Arg1623Ter) SNV Pathogenic 9374 rs137854613 3:38592996-38592996 3:38551505-38551505
4 SCN5A NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His) SNV Pathogenic 207974 rs370694515 3:38592170-38592170 3:38550679-38550679
5 SCN5A NM_198056.2(SCN5A):c.1247A>G (p.Tyr416Cys) SNV Pathogenic 201449 rs372395294 3:38647533-38647533 3:38606042-38606042
6 PKP2 NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) Indel Pathogenic 45063 rs397517021 12:32955434-32955439 12:32802500-32802505
7 TMEM43 NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) SNV Pathogenic 734 rs63750743 3:14183165-14183165 3:14141665-14141665
8 PKP2 NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) SNV Pathogenic 45016 rs372827156 12:33003841-33003841 12:32850907-32850907
9 PKP2 NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) SNV Pathogenic 45049 rs397517012 12:32975460-32975460 12:32822526-32822526
10 PKP2 NM_004572.3(PKP2):c.397C>T (p.Gln133Ter) SNV Pathogenic 202027 rs794729132 12:33031417-33031417 12:32878483-32878483
11 PKP2 NM_004572.3(PKP2):c.1579del (p.Thr526_Leu527insTer) Deletion Pathogenic 202018 rs794729126 12:32994071-32994071 12:32841137-32841137
12 SCN5A NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) SNV Pathogenic 67988 rs199473316 3:38592503-38592503 3:38551012-38551012
13 PKP2 NM_004572.3(PKP2):c.1643del (p.Gly548fs) Deletion Pathogenic 202035 rs794729137 12:32994007-32994007 12:32841073-32841073
14 PKP2 NM_004572.3(PKP2):c.1138G>T (p.Glu380Ter) SNV Likely pathogenic 496253 rs878898365 12:33021893-33021893 12:32868959-32868959
15 DSP NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) SNV Likely pathogenic 180326 rs730880082 6:7577219-7577219 6:7576986-7576986
16 PKP2 NM_001005242.3(PKP2):c.1368del (p.Lys456fs) Deletion Likely pathogenic 917646 12:33003710-33003710 12:32850776-32850776
17 PKP2 NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs) Microsatellite Likely pathogenic 420209 rs1064794350 12:32949219-32949220 12:32796285-32796286
18 PKP2 NM_004572.3(PKP2):c.1840del (p.Leu614fs) Deletion Likely pathogenic 496256 rs1555142994 12:32975532-32975532 12:32822598-32822598
19 DSP NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) SNV Uncertain significance 44906 rs28763965 6:7580795-7580795 6:7580562-7580562
20 PKP2 NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) SNV Uncertain significance 45068 rs139734328 12:32949101-32949101 12:32796167-32796167
21 BAG3 NM_004281.3(BAG3):c.652C>T (p.Arg218Trp) SNV Uncertain significance 39464 rs397514506 10:121431911-121431911 10:119672399-119672399
22 DSC2 NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) SNV Uncertain significance 36005 rs151024019 18:28650748-28650748 18:31070782-31070782
23 PKP2 NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) SNV Likely benign 45033 rs146882581 12:32994073-32994073 12:32841139-32841139
24 DSC2 NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala) SNV Likely benign 161222 rs368299411 18:28662951-28662951 18:31082985-31082985
25 DSC2 NM_024422.6(DSC2):c.2365_2367GGA[1] (p.Gly790del) Microsatellite Benign 180319 rs377272752 18:28648998-28649000 18:31069032-31069034

Expression for Familial Isolated Arrhythmogenic Right Ventricular Dysplasia

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

Pathways for Familial Isolated Arrhythmogenic Right Ventricular Dysplasia

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 SCN5A PKP2 DSP DSC2
2
Show member pathways
11.59 PKP2 DSP DSC2
3
Show member pathways
11.36 PKP2 DSP
4 10.98 PKP2 DSP DSC2
5 10.9 SCN5A DSP

GO Terms for Familial Isolated Arrhythmogenic Right Ventricular Dysplasia

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

# Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 9.43 PKP2 DSP DSC2
2 cornified envelope GO:0001533 9.33 PKP2 DSP DSC2
3 Z disc GO:0030018 9.32 SCN5A BAG3
4 desmosome GO:0030057 9.13 PKP2 DSP DSC2
5 intercalated disc GO:0014704 8.92 SCN5A PKP2 DSP DSC2

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

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.65 PKP2 DSP DSC2
2 cell-cell adhesion GO:0098609 9.61 PKP2 DSP DSC2
3 cornification GO:0070268 9.5 PKP2 DSP DSC2
4 ventricular cardiac muscle cell action potential GO:0086005 9.46 SCN5A PKP2
5 cardiac muscle cell action potential involved in contraction GO:0086002 9.4 SCN5A PKP2
6 positive regulation of sodium ion transport GO:0010765 9.37 SCN5A PKP2
7 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.33 PKP2 DSP DSC2
8 desmosome organization GO:0002934 9.26 PKP2 DSP
9 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.13 PKP2 DSP DSC2
10 regulation of heart rate by cardiac conduction GO:0086091 8.92 SCN5A PKP2 DSP DSC2

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

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.26 SCN5A PKP2
2 scaffold protein binding GO:0097110 9.16 SCN5A DSP
3 protein kinase C binding GO:0005080 8.96 PKP2 DSP
4 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.8 PKP2 DSP DSC2

Sources for Familial Isolated Arrhythmogenic Right Ventricular Dysplasia

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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