MCID: ARR042
MIFTS: 47

Arrhythmogenic Right Ventricular Cardiomyopathy malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Muscle diseases categories

Aliases & Classifications for Arrhythmogenic Right Ventricular Cardiomyopathy

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Aliases & Descriptions for Arrhythmogenic Right Ventricular Cardiomyopathy:

Name: Arrhythmogenic Right Ventricular Cardiomyopathy 10 21 45 22 23 12 24
Arrhythmogenic Right Ventricular Dysplasia 10 21 45 22 23 47 65 36
Arvd 10 21 45 22 23
Arvc 10 21 45 22 23
Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 10 21 22 23
 
Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia 23
Ventricular Dysplasia, Right, Arrhythmogenic 23
Right Ventricular Dysplasia, Arrhythmogenic 23
Arvc Cardiomyopathy 10
Arvd/c 23


Classifications:



External Ids:

Disease Ontology10 DOID:0050431
MeSH36 D019571

Summaries for Arrhythmogenic Right Ventricular Cardiomyopathy

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NIH Rare Diseases:45 Arrhythmogenic right ventricular dysplasia (arvd) is an inherited heart condition in which the muscle of the right ventricle of the heart is replaced by fat and/or scar tissue. the condition is progressive and over time the right ventricle loses the ability to pump blood. individuals with arvd often develop abnormal heart rhythms known as arrhythmias, which can increase the risk of sudden cardiac arrest or death. other symptoms of arvd include chest palpitations, dizziness, fainting and shortness of breath. often, sudden cardiac death can be the first sign of arvd. arvd is caused by genetic mutations in genes that instruct proteins to link one heart cell to the next. there is also some evidence that arvd could be caused by an infection of the heart muscle. treatment options can vary by patient and may include anti-arrhythmogenic medication, implantable cardioverter defibrillators and catheter ablation. last updated: 1/30/2013

MalaCards based summary: Arrhythmogenic Right Ventricular Cardiomyopathy, also known as arrhythmogenic right ventricular dysplasia, is related to arrhythmogenic right ventricular dysplasia 12 and noonan syndrome 1. An important gene associated with Arrhythmogenic Right Ventricular Cardiomyopathy is TMEM43 (Transmembrane Protein 43), and among its related pathways are Cytoskeleton remodeling Neurofilaments and Corticotropin-releasing hormone. Affiliated tissues include heart, testes and pancreas, and related mouse phenotypes are embryogenesis and muscle.

Disease Ontology:10 An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle.

Genetics Home Reference:23 Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death.

Wikipedia:68 Arrhythmogenic right ventricular dysplasia (ARVD), also called arrhythmogenic right ventricular... more...

GeneReviews summary for arvd

Related Diseases for Arrhythmogenic Right Ventricular Cardiomyopathy

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

(show top 50)    (show all 115)
idRelated DiseaseScoreTop Affiliating Genes
1arrhythmogenic right ventricular dysplasia 1231.0DSC2, DSP, JUP, PKP2
2noonan syndrome 130.6DSC2, DSG2, SCN5A
3cardiomyopathy11.5
4naxos disease10.9
5right bundle branch block10.7
6cardiac sarcoidosis10.7
7arrhythmogenic right ventricular dysplasia/cardiomyopathy 210.7
8arrhythmogenic right ventricular dysplasia/cardiomyopathy 410.7
9arrhythmogenic right ventricular dysplasia/cardiomyopathy 610.7
10arrhythmogenic right ventricular dysplasia/cardiomyopathy 710.7
11arrhythmogenic right ventricular dysplasia/cardiomyopathy 910.7
12arrhythmogenic right ventricular dysplasia 510.7
13myopathy10.7
14myopathy, myofibrillar, 110.6
15arrhythmogenic right ventricular dysplasia 810.6
16tetralogy of fallot10.6
17arrhythmogenic right ventricular dysplasia 110.6
18arrhythmogenic right ventricular dysplasia 1010.6
19palmoplantar keratoderma and woolly hair10.6
20brugada syndrome10.6
21congenital heart disease10.6
22myocarditis10.6
23myofibrillar myopathy10.6
24sudden cardiac death10.6
25arrhythmogenic right ventricular dysplasia 210.5
26coronary heart disease 510.5
27arrhythmogenic right ventricular dysplasia, familial, 1310.5
28arrhythmogenic right ventricular dysplasia 910.5
29arrhythmogenic right ventricular dysplasia 1110.5
30dilated cardiomyopathy10.5
31arrhythmogenic right ventricular dysplasia/cardiomyopathy 510.5
32myocardial infarction10.4
33coronary arterial fistulas10.4
34anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.4
35coronary heart disease 810.4
36asthma 110.4
37cardiac conduction defect10.4
38coronary heart disease 310.4
39congestive heart failure10.4
40ectodermal dysplasia10.4
41muscle disorders10.4
42single ventricular heart10.4
43spondylosis10.4
44hypertrophic cardiomyopathy10.4
45protein-losing enteropathy10.4
46spastic diplegia10.4
47enterobiasis10.4
48cardiac arrest10.4
49mixed ductal-endocrine carcinoma10.4
50autonomic nervous system disease10.4

Graphical network of the top 20 diseases related to Arrhythmogenic Right Ventricular Cardiomyopathy:



Diseases related to arrhythmogenic right ventricular cardiomyopathy

Symptoms for Arrhythmogenic Right Ventricular Cardiomyopathy

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Drugs & Therapeutics for Arrhythmogenic Right Ventricular Cardiomyopathy

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Drugs for Arrhythmogenic Right Ventricular Cardiomyopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EplerenoneapprovedPhase 387107724-20-9150310, 443872
Synonyms:
107724-20-9
7alpha-methoxycarbonyl-3-oxo-9,11alpha-epoxy-17alpha-pregn-4-ene-21,17-carbolactone
AC-4213
AC1L9FDC
C12512
CGP-30083
CHEBI:31547
CHEBI:726453
CHEMBL1095097
CID443872
D01115
Eplerenone
 
Eplerenone (JAN/USAN/INN)
Epoxymexrenone
Inspra
Inspra (TN)
Inspra, Epoxymexrenone, CGP30083, SC-66110,Eplerenone
MolPort-003-986-216
NCGC00159559-01
NCGC00159559-02
S1707_Selleck
SC-66110
Selara
TL8000270
ZINC03985982
2MineralocorticoidsPhase 3294
3
Isoproterenolapproved157683-59-23779
Synonyms:
(+)-Isoprenaline
(+)-Isoproterenol
(+-)-Isoprenaline
(+-)-Isoproterenol
(-)-Isoproterenol hydrochloride
(S)-(+)-Isoproterenol
(S)-Isoprenaline
(S)-Isoproterenol
(±)-isoprenaline
(±)-isoproterenol
.alpha.-(Isopropylaminomoethyl)protocatechuyl alcohol
1,2-Benzenediol, 4-(1-hydroxy-2-((1-methylethyl)amino)ethyl)- (9CI)
1,2-Benzenediol, 4-(1-hydroxy-2-((1-methylethyl)amino)ethyl)-, (S)- (9CI)
1-(3,4-Dihydroxyphenyl)-2-(isopropylamino)ethanol
1-(3,4-Dihydroxyphenyl)-2-isopropylaminoethanol
149-53-1
2964-04-7
3,4-Dihydroxy-.alpha.-(isopropylaminomethyl)-benzyl alcohol
3,4-Dihydroxy-.alpha.-[(isopropylamino)methyl]benzyl alcohol
3,4-Dihydroxy-alpha-((isopropylamino)methyl)benzyl alcohol
3,4-Dihydroxy-alpha-[(isopropylamino)methyl]benzyl alcohol
3-13-00-02387 (Beilstein Handbook Reference)
4-(1-Hydroxy-2(isopropylamino)ethyl)-benzene 1,2-diol
4-(1-Hydroxy-2-((1-methylethyl)amino)ethyl)-1,2-benzenediol
4-{1-hydroxy-2-[(1-methylethyl)amino]ethyl}benzene-1,2-diol
46388-38-9
7683-59-2
AC1L1GOZ
AC1Q1QBS
Aerolone
Aleudrin
Aleudrine
Aludrin
Aludrine
Asiprenol
Asmalar
Assiprenol
BRN 2213857
BSPBio_002208
Bellasthman
Bronkephrine
C07056
CCRIS 3081
CHEMBL434
CID3779
D08090
DB01064
DL(+-)-Isoproterenol
DL-Isopropylnorepinephrine
Dihydroxyphenylethanolisopropylamine
DivK1c_000894
EINECS 231-687-7
Epinephrine Isopropyl Homolog
Epinephrine isopropyl homolog
Euspiran
HMS2089A12
ICI 46399
IDI1_000894
IPA
ISOPROP
Isadrin
Isadrine
Isonorene
Isonorin
Isoprenalin
Isoprenalina
Isoprenalina [INN-Spanish]
Isoprenaline
Isoprenaline (INN)
Isoprenaline Hydrochloride
Isoprenaline hydrochloride
Isoprenalinum
Isoprenalinum [INN-Latin]
Isopropydrin
Isopropyl noradrenaline
Isopropyladrenaline
Isopropylaminomethyl(3,4-dihydroxyphenyl)carbinol
Isopropylaminomethyl-3,4-dihydroxyphenyl carbinol
Isopropylarterenol
Isopropylnoradrenaline
Isopropylnorepinephrine
Isoproterenol
Isoproterenol Chloride
Isoproterenol HCl
 
Isoproterenol [JAN]
Isoproterenolum
Isorenin
Isuprel
Isuprel Mistometer
Isupren
Izadrin
KBio1_000894
KBio2_001429
KBio2_003997
KBio2_006565
KBio3_001428
KBioGR_000427
KBioSS_001429
L-Isopropylnoradrenaline
L-Isoproterenol
L000936
LS-42866
LS-42868
LS-42869
Lomupren
Lopac0_000711
Medihaler-ISO
Medihaler-Iso
MolPort-001-783-449
N-Isopropyl-beta-dihydroxyphenyl-beta-hydroxyethylamine
N-Isopropylnoradrenaline
N-Isopropylnorepinephrine
N-isopropyl-β-dihydroxyphenyl-β-hydroxyethylamine
NCGC00015558-08
NCGC00025274-03
NCGC00025274-04
NCGC00162220-01
NINDS_000894
NSC 33791
NSC 9975
NSC33791
NSC9975
Neo-Epinine
Neodrenal
Norisodrine
Norisodrine Aerotrol
Novodrin
Oprea1_009434
PDSP1_001425
PDSP2_001409
Prestwick0_001097
Prestwick1_001097
Prestwick2_001097
Proternol
Racemic isoprenaline
Racemic isoproterenol
Respifral
SGCUT00015
SPBio_001042
SPBio_003057
STOCK1N-00740
Saventrine
Spectrum2_001061
Spectrum3_000474
Spectrum4_000024
Spectrum5_000880
Spectrum_000949
UNII-L628TT009W
Vapo-Iso
Vapo-N-iso
WIN 5162
WLN: QR BQ DYQ1MY1&1
alpha-(Isopropylaminomethyl)protocatechuyl alcohol
d-Isoprenaline
d-Isopropylarterenol
d-Isoproterenol
d-N-Isopropylnorepinephrine
dl-Ipr
dl-Isadrine
dl-Isopropylnoradrenaline
dl-N-Isopropylnoradrenaline
isoproterenol
l-Isopropylnoradrenaline
l-Isoproterenol
nchembio.307-comp1
nchembio801-comp2
nchembio882-comp6
neo-Epinine
to_000062
α-(isopropylaminomethyl)protocatechuyl alcohol
4Gadolinium DTPA82
5Gadobenic acid82

Interventional clinical trials:

(show all 14)
idNameStatusNCT IDPhase
1Registry of Unexplained Cardiac ArrestRecruitingNCT00292032Phase 3
2PHOspholamban RElated CArdiomyopathy STudy - InterventionRecruitingNCT01857856Phase 3
3Diagnostic Value and Safety of Flecainide Infusion Test in Brugada SyndromeRecruitingNCT02302274Phase 1, Phase 2
4Arrhythmogenic Right Ventricular Dysplasia/CardiomyopathyCompletedNCT00999947
5Multidisciplinary Study of Right Ventricular DysplasiaCompletedNCT00024505
6The Role of High Density Surface ECG in the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)CompletedNCT02291393
7Isoproterenol Challenge to Detect Arrhythmogenic Right Ventricular CardiomyopathyCompletedNCT00083395
8Molecular Genetic Screening and Identification of Congenital Arrhythmogenic DiseasesRecruitingNCT00221832
9Pediatric Cardiomyopathy Mutation AnalysisRecruitingNCT02432092
10German Centre for Cardiovascular Research Cardiomyopathy RegisterRecruitingNCT02187263
11Endo- and Epicardial vs. Endocardial Ablation of Ventricular Tachycardia in Patients With Cardiac DiseaseRecruitingNCT01767220
12T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart DiseaseRecruitingNCT02350829
13Canadian National ARVC RegistryEnrolling by invitationNCT01804699
14Prolonged Monitoring to Detect Ventricular Arrhythmias in Presymptomatic Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) PatientsTerminatedNCT01271816

Search NIH Clinical Center for Arrhythmogenic Right Ventricular Cardiomyopathy


Cochrane evidence based reviews: Arrhythmogenic Right Ventricular Dysplasia

Genetic Tests for Arrhythmogenic Right Ventricular Cardiomyopathy

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Genetic tests related to Arrhythmogenic Right Ventricular Cardiomyopathy:

id Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy22 TMEM43
2 Arrhythmogenic Right Ventricular Cardiomyopathy24

Anatomical Context for Arrhythmogenic Right Ventricular Cardiomyopathy

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MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Cardiomyopathy:

33
Heart, Testes, Pancreas, Brain

Animal Models for Arrhythmogenic Right Ventricular Cardiomyopathy or affiliated genes

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MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Cardiomyopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053806.8CDH2, CTNNB1, DSP, GJA1, JUP, RYR2
2MP:00053696.5CDH2, CTNNA3, CTNNB1, DES, GJA1, JUP
3MP:00053855.8CDH2, CTNNA3, CTNNB1, DES, GJA1, JUP
4MP:00107685.6CDH2, CTNNA3, CTNNB1, DES, DSG2, DSP

Publications for Arrhythmogenic Right Ventricular Cardiomyopathy

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Articles related to Arrhythmogenic Right Ventricular Cardiomyopathy:

(show top 50)    (show all 187)
idTitleAuthorsYear
1
Arrhythmogenic right ventricular cardiomyopathy, clinical manifestations, and diagnosis. (26498164)
2015
2
Comparison of radionuclide angiographic synchrony analysis to echocardiography and magnetic resonance imaging for the diagnosis of arrhythmogenic right ventricular cardiomyopathy. (25744613)
2015
3
Arrhythmogenic right ventricular cardiomyopathy in monozygotic twin sisters, and persistent left superior vena cava in one complicating implantation of ICD. (26536991)
2015
4
"Awakening to" a new meaning of being at-risk for arrhythmogenic right ventricular cardiomyopathy: a grounded theory study. (25620752)
2015
5
A unique case of systemic thromboembolism in a patient with arrhythmogenic right ventricular cardiomyopathy. (25848377)
2015
6
Long-Term Outcome with Catheter Ablation of Ventricular Tachycardia in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy. (26546346)
2015
7
2015 Update on the diagnosis and management of arrhythmogenic right ventricular cardiomyopathy. (26569086)
2015
8
Right Ventricular Strain and Dyssynchrony Assessment in Arrhythmogenic Right Ventricular Cardiomyopathy: Cardiac Magnetic Resonance Feature-Tracking Study. (26534932)
2015
9
Perceived economic burden associated with an inherited cardiac condition: a qualitative inquiry with families affected by arrhythmogenic right ventricular cardiomyopathy. (26513349)
2015
10
Electrocardiographic features of disease progression in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (25599583)
2015
11
High Arrhythmic Burden but Low Mortality during Long-term Follow-up in Arrhythmogenic Right Ventricular Cardiomyopathy. (26546095)
2015
12
Right ventricular strain by MR quantitatively identifies regional dysfunction in patients with arrhythmogenic right ventricular cardiomyopathy. (26497822)
2015
13
Arrhythmogenic right ventricular cardiomyopathy (ARVC): cardiovascular magnetic resonance update. (25191878)
2014
14
Cardiac MR Findings and Potential Diagnostic Pitfalls in Patients Evaluated for Arrhythmogenic Right Ventricular Cardiomyopathy. (25310417)
2014
15
A case of arrhythmogenic right ventricular cardiomyopathy (ARVC/D) in which tenascin C immunostaining made the assessment of myocardial remodeling possible. (25186773)
2014
16
Arrhythmogenic right ventricular cardiomyopathy/dysplasia in Saudi Arabia: a single-center experience with long-term follow-up. (25827699)
2014
17
Fulminant variant of Loeffler disease mimicking arrhythmogenic right ventricular cardiomyopathy in the course of enterobiasis. (25246480)
2014
18
Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy. (23381804)
2013
19
Clinical usefulness of immunohistochemistry for plakoglobin, N-cadherin, and connexin-43 in the diagnosis of arrhythmogenic right ventricular cardiomyopathy. (24294380)
2013
20
Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy. (22889254)
2013
21
Comparison of late potentials for 24 hours between Brugada syndrome and arrhythmogenic right ventricular cardiomyopathy using a novel signal-averaging system based on Holter ECG. (22665699)
2012
22
PKP2 mutations in sudden death from arrhythmogenic right ventricular cardiomyopathy (ARVC) and sudden unexpected death with negative autopsy (SUDNA). (22019812)
2012
23
A novel variant in plakophilin-2 gene detected in a family with arrhythmogenic right ventricular cardiomyopathy. (22170284)
2012
24
Arrhythmogenic right ventricular cardiomyopathy/dysplasia and troponin release. Myocarditis or the "hot phase" of the disease? (21962611)
2012
25
Special features of right bundle branch block in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. (22036093)
2012
26
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. (22820313)
2012
27
Cardiac sarcoidosis masquerading as arrhythmogenic right ventricular cardiomyopathy. (21937273)
2012
28
A case of arrhythmogenic right ventricular cardiomyopathy-Naxos disease. (22572432)
2012
29
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. (20864495)
2010
30
Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (19863551)
2010
31
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. (20829228)
2010
32
Arrhythmogenic right ventricular cardiomyopathy plakophilin-2 mutations disrupt desmosome assembly and stability. (19533476)
2009
33
Electrical storm in a patient with arrhythmogenic right ventricular cardiomyopathy and SCN5A mutation. (18375968)
2008
34
Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro. (17963498)
2007
35
Palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy. (16487136)
2006
36
Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: wide spectrum of disease in mutation carriers within a family. (16876743)
2006
37
Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. (16505173)
2006
38
Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis. (16893920)
2006
39
Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsies. (16774985)
2006
40
Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy. (16415378)
2006
41
Desmoplakin disease in arrhythmogenic right ventricular cardiomyopathy: early genotype-phenotype studies. (15941722)
2005
42
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. (15489853)
2004
43
Arrhythmogenic right ventricular cardiomyopathy (Naxos disease): report of a Turkish boy. (14675023)
2003
44
Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. (12373648)
2002
45
Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). (11159936)
2001
46
Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. (11691526)
2001
47
Mixed ductal-endocrine carcinoma of the pancreas: a possible pathogenic mechanism for arrhythmogenic right ventricular cardiomyopathy. (10656740)
2000
48
Extensive thrombus formation in the right ventricle due to a rare combination of arrhythmogenic right ventricular cardiomyopathy and heterozygous prothrombin gene mutation G20210 A. (10894919)
2000
49
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. (10970245)
1999
50
A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43. (8589694)
1995

Variations for Arrhythmogenic Right Ventricular Cardiomyopathy

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Clinvar genetic disease variations for Arrhythmogenic Right Ventricular Cardiomyopathy:

5 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1DSG2NM_001943.3(DSG2): c.1912G> A (p.Gly638Arg)single nucleotide variantPathogenicrs201564919GRCh37Chr 18, 29121188: 29121188
2DSPNM_004415.2(DSP): c.5324G> T (p.Arg1775Ile)single nucleotide variantPathogenicrs34738426GRCh37Chr 6, 7581747: 7581747
3SCN5ANM_198056.2(SCN5A): c.998+5G> Asingle nucleotide variantPathogenicrs187531872GRCh37Chr 3, 38649637: 38649637
4NM_001943.3(DSG2): c.2434G> T (p.Gly812Cys)single nucleotide variantLikely pathogenic, Pathogenicrs121913010GRCh37Chr 18, 29125783: 29125783
5DSG2NM_001943.3(DSG2): c.991G> A (p.Glu331Lys)single nucleotide variantLikely pathogenic, Pathogenicrs121913012GRCh37Chr 18, 29104828: 29104828
6DSG2NM_001943.3(DSG2): c.166G> A (p.Val56Met)single nucleotide variantPathogenic, risk factorrs121913013GRCh37Chr 18, 29099850: 29099850
7DSPNM_004415.2(DSP): c.88G> A (p.Val30Met)single nucleotide variantLikely pathogenic, Pathogenicrs121912998GRCh37Chr 6, 7542236: 7542236
8CALR3NM_145046.4(CALR3): c.245A> G (p.Lys82Arg)single nucleotide variantPathogenicrs142951029GRCh37Chr 19, 16601330: 16601330
9PKP2NM_004572.3(PKP2): c.1613G> A (p.Trp538Ter)single nucleotide variantLikely pathogenic, Pathogenicrs193922672GRCh37Chr 12, 32994037: 32994037
10BAG3NM_004281.3(BAG3): c.652C> T (p.Arg218Trp)single nucleotide variantLikely pathogenic, Pathogenicrs397514506GRCh37Chr 10, 121431911: 121431911
11NM_002667.3(PLN): c.40_42delAGA (p.Arg14del)deletionPathogenicrs397516784GRCh37Chr 6, 118880124: 118880126
12DSPNM_004415.2(DSP): c.2422C> T (p.Arg808Cys)single nucleotide variantLikely pathogenic, Pathogenicrs150339369GRCh37Chr 6, 7575014: 7575014
13PKP2NM_004572.3(PKP2): c.1237C> T (p.Arg413Ter)single nucleotide variantLikely pathogenic, Pathogenicrs372827156GRCh37Chr 12, 33003841: 33003841
14PKP2NM_004572.3(PKP2): c.1378+1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs397516994GRCh37Chr 12, 33003699: 33003699
15PKP2NM_004572.3(PKP2): c.148_151delACAG (p.Thr50Serfs)deletionLikely pathogenic, Pathogenicrs397516997GRCh37Chr 12, 33049515: 33049518
16PKP2NM_004572.3(PKP2): c.2062T> C (p.Ser688Pro)single nucleotide variantPathogenicrs144601090GRCh37Chr 12, 32974373: 32974373
17KCNH2NM_000238.3(KCNH2): c.3133C> T (p.Leu1045Phe)single nucleotide variantPathogenicrs199473025GRCh37Chr 7, 150644435: 150644435
18PKP2NM_004572.3(PKP2): c.2146-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs193922674GRCh37Chr 12, 32955491: 32955491
19PKP2NM_004572.3(PKP2): c.2489+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs111517471GRCh37Chr 12, 32949042: 32949042
20TMEM43NM_024334.2(TMEM43): c.1073C> T (p.Ser358Leu)single nucleotide variantPathogenicrs63750743GRCh37Chr 3, 14183165: 14183165

Expression for genes affiliated with Arrhythmogenic Right Ventricular Cardiomyopathy

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Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Cardiomyopathy.

Pathways for genes affiliated with Arrhythmogenic Right Ventricular Cardiomyopathy

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Pathways related to Arrhythmogenic Right Ventricular Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6DES, DSP, PKP2
28.9CTNNB1, GJA1, JUP
38.8DSP, GJA1, JUP, RYR2, SCN5A
48.7CTNNA3, CTNNB1, TGFB3
58.7CDH2, CTNNB1, RYR2
68.6ACTN2, CTNNA3, CTNNB1
78.6ACTN2, CTNNA3, CTNNB1
88.6ACTN2, CTNNA3, CTNNB1
98.6ACTN2, CTNNA3, CTNNB1
108.6CDH2, CTNNB1, GJA1
118.5CTNNB1, GJA1, RYR2, SCN5A
12
Show member pathways
8.4CTNNA3, CTNNB1, JUP, TGFB3
138.4CTNNA3, CTNNB1, JUP, TGFB3
148.2CDH2, CTNNA3, CTNNB1, JUP
15
Show member pathways
8.2ACTN2, CDH2, CTNNB1, JUP
168.0CDH2, CTNNB1, DSP, GJA1, JUP
177.7ACTN2, CDH2, CTNNA3, CTNNB1, JUP
18
Show member pathways
7.3ACTN2, CDH2, CTNNA3, CTNNB1, JUP, TGFB3
19
Show member pathways
7.3ACTN2, CDH2, CTNNA3, CTNNB1, JUP, TGFB3
207.0ACTN2, CDH2, CTNNA3, CTNNB1, DSP, GJA1
21
Show member pathways
5.1ACTN2, CDH2, CTNNA3, CTNNB1, DES, DSC2

GO Terms for genes affiliated with Arrhythmogenic Right Ventricular Cardiomyopathy

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Cellular components related to Arrhythmogenic Right Ventricular Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1protein-DNA complexGO:003299310.1CTNNB1, JUP
2intermediate filamentGO:000588210.0DES, DSP, JUP, PKP2
3desmosomeGO:00300579.5DSC2, DSG2, DSP, JUP, PKP2
4cell-cell adherens junctionGO:00059139.3CDH2, CTNNB1, JUP
5catenin complexGO:00163429.3CDH2, CTNNB1, JUP
6lateral plasma membraneGO:00163288.9CTNNB1, DSG2, SCN5A
7adherens junctionGO:00059128.9CDH2, CTNNA3, CTNNB1, PKP2
8lamellipodiumGO:00300278.7CDH2, CTNNA3, CTNNB1
9cytoskeletonGO:00058568.6ACTN2, CTNNA3, DES, DSP, JUP
10cell-cell junctionGO:00059118.5CDH2, CTNNB1, DSG2, DSP, JUP, PKP2
11focal adhesionGO:00059258.2ACTN2, CDH2, CTNNB1, GJA1, JUP
12fascia adherensGO:00059168.0CDH2, CTNNA3, CTNNB1, DES, DSP, GJA1
13Z discGO:00300187.5ACTN2, CTNNB1, DES, JUP, RYR2, SCN5A
14intercalated discGO:00147047.4CDH2, CTNNB1, DSC2, DSG2, DSP, GJA1
15extracellular exosomeGO:00700626.3ACTN2, CDH2, CTNNB1, DES, DSC2, DSG2
16plasma membraneGO:00058865.6ACTN2, CDH2, CTNNB1, DSC2, DSG2, DSP

Biological processes related to Arrhythmogenic Right Ventricular Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1desmosome assemblyGO:000215910.6JUP, PKP2
2desmosome organizationGO:000293410.6DSG2, DSP
3cardiac muscle cell action potential involved in contractionGO:008600210.5PKP2, SCN5A
4positive regulation of sodium ion transportGO:001076510.5PKP2, SCN5A
5gap junction assemblyGO:001626410.4GJA1, PKP2
6regulation of bicellular tight junction assemblyGO:200081010.4GJA1, PKP2
7positive regulation of heart rateGO:001046010.2RYR2, SCN5A
8ventricular cardiac muscle cell action potentialGO:008600510.2PKP2, RYR2, SCN5A
9regulation of cell fate specificationGO:004265910.0CTNNB1, JUP
10cell communication by electrical coupling involved in cardiac conductionGO:008606410.0GJA1, PKP2, RYR2
11adherens junction assemblyGO:003433310.0CTNNB1, JUP
12cellular response to indole-3-methanolGO:00716819.9CTNNB1, JUP
13cell-cell junction organizationGO:00452169.6CDH2, JUP, TGFB3
14muscle contractionGO:00069369.6ACTN2, DES, GJA1
15regulation of myelinationGO:00316419.5CDH2, CTNNB1
16positive regulation of muscle cell differentiationGO:00511499.5CDH2, CTNNB1
17cellular component disassembly involved in execution phase of apoptosisGO:00069219.4CTNNB1, DSG2, DSP
18programmed cell deathGO:00125019.4CTNNB1, DSG2, DSP
19homophilic cell adhesion via plasma membrane adhesion moleculesGO:00071569.4CDH2, DSC2, DSG2
20establishment of protein localization to plasma membraneGO:00900029.3ACTN2, CDH2, JUP, PKP2
21bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:00860739.3CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
22skin developmentGO:00435889.1CTNNB1, DSP, JUP
23regulation of ventricular cardiac muscle cell action potentialGO:00989119.0CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
24adherens junction organizationGO:00343328.9CDH2, CTNNB1, DSP, JUP
25negative regulation of cell proliferationGO:00082858.8CTNNB1, GJA1, PKP2, TGFB3
26regulation of heart rate by cardiac conductionGO:00860918.8CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
27single organismal cell-cell adhesionGO:00163377.9CDH2, CTNNA3, CTNNB1, DSP, JUP, PKP2
28cell adhesionGO:00071556.8ACTN2, CDH2, CTNNA3, CTNNB1, DSC2, DSG2

Molecular functions related to Arrhythmogenic Right Ventricular Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cell adhesion molecule bindingGO:005083910.1DSG2, DSP, JUP
2nuclear hormone receptor bindingGO:00352579.7CTNNB1, JUP
3nitric-oxide synthase bindingGO:00509989.5CDH2, SCN5A
4cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communicationGO:00860839.2CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
5cadherin bindingGO:00452969.2CTNNA3, CTNNB1, JUP
6protein phosphatase bindingGO:00199039.1CDH2, CTNNB1, JUP
7alpha-catenin bindingGO:00452948.9CDH2, CTNNB1, JUP, PKP2
8ion channel bindingGO:00443258.5ACTN2, CTNNB1, PKP2, RYR2, SCN5A
9enzyme bindingGO:00198998.4CDH2, CTNNB1, RYR2, SCN5A
10calcium ion bindingGO:00055098.2ACTN2, CDH2, DSC2, DSG2, RYR2

Sources for Arrhythmogenic Right Ventricular Cardiomyopathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet