MCID: ARR042
MIFTS: 51

Arrhythmogenic Right Ventricular Cardiomyopathy malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

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 36 65
Arvc 10 21 45 22 23
Arvd 10 21 45 22 23
Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 10 21 22 23
 
Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia 23 24
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
NCIt42 C84571
UMLS65 C0349788

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 8 and arrhythmogenic right ventricular dysplasia 12. 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 lung, and related mouse phenotypes are embryo and cellular.

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 NBK1131

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 207)
idRelated DiseaseScoreTop Affiliating Genes
1arrhythmogenic right ventricular dysplasia 833.2DSP, JUP
2arrhythmogenic right ventricular dysplasia 1232.8DSC2, DSP, JUP, PKP2
3arrhythmogenic right ventricular dysplasia/cardiomyopathy 112.8
4arrhythmogenic right ventricular dysplasia/cardiomyopathy 212.8
5arrhythmogenic right ventricular dysplasia/cardiomyopathy 312.8
6arrhythmogenic right ventricular dysplasia/cardiomyopathy 412.8
7arrhythmogenic right ventricular dysplasia/cardiomyopathy 612.8
8arrhythmogenic right ventricular dysplasia/cardiomyopathy 712.8
9arrhythmogenic right ventricular dysplasia/cardiomyopathy 512.8
10arrhythmogenic right ventricular dysplasia/cardiomyopathy 812.8
11arrhythmogenic right ventricular dysplasia/cardiomyopathy 912.8
12arrhythmogenic right ventricular dysplasia, familial, 1312.0
13naxos disease12.0
14myopathy, myofibrillar, 111.9
15arrhythmogenic right ventricular dysplasia 211.8
16arrhythmogenic right ventricular dysplasia 511.8
17arrhythmogenic right ventricular dysplasia 911.8
18arrhythmogenic right ventricular dysplasia 111.8
19arrhythmogenic right ventricular dysplasia 1111.8
20arrhythmogenic right ventricular dysplasia 1011.8
21arrhythmogenic right ventricular dysplasia/cardiomyopathy1311.7
22familial isolated arrhythmogenic right ventricular dysplasia11.7
23thyroiditis10.5
24headache10.4
25hepatitis10.4
26dementia10.4
27adenocarcinoma10.4
28neuronitis10.4
29cardiomyopathy10.4
30lung cancer10.3
31sarcoma10.3
32ehlers-danlos syndrome10.3
33prostatitis10.3
34cervicitis10.3
35paget's disease of bone10.3
36rosai-dorfman disease10.3
37endotheliitis10.3
38dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis10.3DSP, JUP
39ventricular tachycardia, catecholaminergic polymorphic, 210.3DSG2, RYR2
40ventricular tachycardia, catecholaminergic polymorphic, 110.3DSG2, RYR2
41ichthyosis-hypotrichosis-sclerosing cholangitis syndrome10.2DSC2, DSG2, DSP
42long qt syndrome 1410.2DSG2, RYR2
43peri-anal fistula10.2DSG2, DSP, JUP
44hypercholesterolemia, familial10.2DSC2, DSP, JUP
45schizophrenia10.2
46pheochromocytoma10.2
47neuroblastoma10.2
48myocardial infarction10.2
49hiv-110.2
50prostate cancer10.2

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):

(show all 21)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EplerenoneapprovedPhase 389107724-20-9150310, 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
2Mineralocorticoid Receptor AntagonistsPhase 3284
3MineralocorticoidsPhase 3301
4Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 39988
5Natriuretic AgentsPhase 31403
6HormonesPhase 311748
7Diuretics, Potassium SparingPhase 3, Phase 1, Phase 21445
8Hormone AntagonistsPhase 310002
9diureticsPhase 31194
10Sodium Channel BlockersPhase 1, Phase 21180
11Anti-Arrhythmia AgentsPhase 1, Phase 22371
12
Isoproterenolapproved197683-59-23779
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
13Neurotransmitter Agents14795
14Protective Agents5651
15Respiratory System Agents3931
16Peripheral Nervous System Agents18510
17Bronchodilator Agents2377
18Adrenergic Agents4204
19Adrenergic Agonists2331
20Adrenergic beta-Agonists1266
21Anti-Asthmatic Agents2796

Interventional clinical trials:

(show all 15)
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
12Comparison Between Standard and Ultrasound Integrated Approach for Risk Stratification of Syncope in the Emergency DepartmentRecruitingNCT02781207
13T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart DiseaseRecruitingNCT02350829
14Canadian National ARVC RegistryEnrolling by invitationNCT01804699
15Prolonged 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

Anatomical Context for Arrhythmogenic Right Ventricular Cardiomyopathy

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MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Cardiomyopathy:

33
Heart, Testes, Lung, Monocytes, Endothelial, Cervix, Testis

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:00053808.1CDH2, CTNNB1, DSP, GJA1, JUP, RYR2
2MP:00053846.9CDH2, CTNNB1, DES, DSG2, DSP, GJA1
3MP:00053696.6CDH2, CTNNA3, CTNNB1, DES, DSP, GJA1
4MP:00053856.0CDH2, CTNNA3, CTNNB1, DES, DSP, GJA1
5MP:00107685.8CDH2, 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 189)
idTitleAuthorsYear
1
Dermatologic Diseases in 8 of the Cantigas of Holy Mary of Alfonso X the Learned - Part 2: Genital Mutilation, Scrofuloderma, Scabies, Erysipelas, and the Ailments of the King. (27156179)
2016
2
Association of MicroRNA-146a rs2910164 Gene Polymorphism with Metabolic Syndrome. (25958310)
2015
3
Clinical significance of assessing Her2/neu expression in gastric cancer with dual tumor tissue paraffin blocks. (25863425)
2015
4
Neurosyphilis in the mixed urban-rural community of the Netherlands. (25142195)
2014
5
Efficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum. (25264593)
2014
6
T lymphocyte apoptosis in systemic lupus erythematosus patients. (24106599)
2013
7
Urologic outcomes of pediatric pelvic neuroblastoma presenting in acute urinaryA retention. (24050765)
2013
8
Risk of acute myocardial infarction after transurethral resection of prostate in elderly. (24267821)
2013
9
The hereditary hyperferritinemia-cataract syndrome in 2 italian families. (24368960)
2013
10
Association between serotonin transporter (SERT) gene polymorphism and idiopathic pulmonary arterial hypertension: a meta-analysis and review of the literature. (24075737)
2013
11
Is hybrid imaging (SPECT/CT) a useful adjunct in the management of suspected facet joints arthropathy? (23412368)
2013
12
The Association between Insomnia Symptoms and Mortality: A Prospective Study of US Men. (24226807)
2013
13
New insight into the functions of the interleukin-17 receptor adaptor protein Act1 in psoriatic arthritis. (23116200)
2012
14
Elevated levels of IFNI^ and LIGHT in the spinal cord of patients with sporadic amyotrophic lateral sclerosis. (22221541)
2012
15
Pregnenolone sulphate- and cholesterol-regulated TRPM3 channels coupled to vascular smooth muscle secretion and contraction. (20360246)
2010
16
Colonic metastasis from a primary adenocarcinoma of the lung presenting with acute abdominal pain: a case report. (20040472)
2010
17
Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD. (18230755)
2008
18
Safety and efficacy of risk-adapted cyclophosphamide, thalidomide, and dexamethasone in systemic AL amyloidosis. (16990593)
2007
19
Comparative characteristic of angiotensin-converting enzyme inhibitor--captopril and the angiotensin II receptor blokers--losartan action on the oxidative metabolism in experimental hyperlipidemia in rabbits]. (17984566)
2007
20
N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase expression during early mouse embryonic development. (17051481)
2006
21
Cord blood IGF-1 and IGFBP-3 levels in asphyxiated term newborns. (17187018)
2006
22
Farmer's lung is now in decline. (16986564)
2006
23
Airway management of patient with Smith-Lemli-Opitz syndrome for gastric surgery: case report. (16490099)
2006
24
Expression of a CD44 variant and VEGF-C and the implications for lymphatic metastasis and long-term prognosis of human breast cancer. (15943035)
2005
25
Analysis of RPS19 in patients with cartilage-hair hypoplasia and severe anemia: preliminary results. (16088923)
2005
26
Loss-of-function mutations of the K(+) channel gene KCNJ2 constitute a rare cause of long QT syndrome. (15276028)
2004
27
Growth hormone insufficiency and its impact on ovarian function. (14644812)
2003
28
Nitration and chlorination of folic acid by peroxynitrite and hypochlorous acid, and the selective binding of 10-nitro-folate to folate receptor beta. (12372420)
2002
29
Flexible structures of SIBLING proteins, bone sialoprotein, and osteopontin. (11162539)
2001
30
Importance of lipoprotein metabolism parameters in the clinical and angiographic severity of coronary artery disease. (10961093)
2000
31
Migratory behavior of lymphocytes isolated from multiple sclerosis patients: effects of interferon beta-1b therapy. (10482262)
1999
32
In situ localization of mRNA gelatinases in cerebral aneurysms]. (11715488)
1999
33
Spi-1/PU.1 proto-oncogene induces opposite effects on monocytic and erythroid differentiation of K562 cells. (9826539)
1998
34
Transgene expression in the rhesus cervix mediated by an adenovirus expressing beta-galactosidase. (8623835)
1996
35
Pontine reticular formation neurons exhibit a premature and precipitous increase in acoustic responses prior to audiogenic seizures in genetically epilepsy-prone rats. (8788917)
1995
36
Modulation of endothelial cell proliferation, adhesion, and motility by recombinant heparin-binding domain and synthetic peptides from the type I repeats of thrombospondin. (8227183)
1993
37
Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defect. (8479824)
1993
38
An essential role for phosphatidylinositol transfer protein in phospholipase C-mediated inositol lipid signaling. (8374957)
1993
39
Are haemostatic and fibrinolytic parameters predictors of preeclampsia in pregnancy-associated hypertension? (1796389)
1991
40
Bacterial periplasmic permeases belong to a family of transport proteins operating from Escherichia coli to human: Traffic ATPases. (2147378)
1990
41
Cor pulmonale in an Angus cow. (2590140)
1989
42
Alcoholic cardiomyopathy in rats: inotropic responses to phenylephrine, glucagon, ouabain, and dobutamine. (3437459)
1987
43
Systemic mastocytosis--case report and literature review. (3325540)
1987
44
Gingivitis and gingival recession in adults from high-fluoride and low-fluoride areas. (4506980)
1972
45
Neurofibrosarcoma of sciatic nerve. (5508532)
1970
46
A transplantable ovarian papillary adenocarcinoma of the rat with ascites implants in the ovary. (12991049)
1952
47
Scleroderma in bands and spina bifida occulta. (18098651)
1948
48
Case of Transplantation of the Rectus for Incontinence due to Epispadias. (19984085)
1924
49
Urticaria Pigmentosa of the Macular Type in an Infant. (19974945)
1911
50

Variations for Arrhythmogenic Right Ventricular Cardiomyopathy

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Clinvar genetic disease variations for Arrhythmogenic Right Ventricular Cardiomyopathy:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1DSG2NM_001943.3(DSG2): c.1912G> A (p.Gly638Arg)single nucleotide variantPathogenicrs201564919GRCh37Chr 18, 29121188: 29121188
2DSC2NM_024422.4(DSC2): c.663T> A (p.Tyr221Ter)single nucleotide variantLikely pathogenic, Pathogenicrs145476705GRCh37Chr 18, 28667744: 28667744
3DSG2NM_001943.3(DSG2): c.166G> A (p.Val56Met)single nucleotide variantPathogenic, risk factorrs121913013GRCh37Chr 18, 29099850: 29099850
4CALR3NM_145046.4(CALR3): c.245A> G (p.Lys82Arg)single nucleotide variantPathogenicrs142951029GRCh37Chr 19, 16601330: 16601330
5PKP2NM_004572.3(PKP2): c.1613G> A (p.Trp538Ter)single nucleotide variantLikely pathogenic, Pathogenicrs193922672GRCh37Chr 12, 32994037: 32994037
6PKP2NM_004572.3(PKP2): c.1237C> T (p.Arg413Ter)single nucleotide variantLikely pathogenic, Pathogenicrs372827156GRCh37Chr 12, 33003841: 33003841
7PKP2NM_004572.3(PKP2): c.1378+1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs397516994GRCh37Chr 12, 33003699: 33003699
8PKP2NM_004572.3(PKP2): c.148_151delACAG (p.Thr50Serfs)deletionLikely pathogenic, Pathogenicrs397516997GRCh37Chr 12, 33049515: 33049518
9PKP2NM_004572.3(PKP2): c.2146-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs193922674GRCh37Chr 12, 32955491: 32955491
10PKP2NM_004572.3(PKP2): c.2489+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs111517471GRCh37Chr 12, 32949042: 32949042
11TMEM43NM_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 22)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.6DES, DSP, PKP2
29.3CTNNB1, GJA1, JUP
39.3CTNNB1, GJA1, RYR2
49.2CDH2, CTNNB1, RYR2
5
Show member pathways
9.1CDH2, CTNNB1, GJA1
69.1CDH2, CTNNB1, GJA1
79.0CTNNA3, CTNNB1, TGFB3
88.9ACTN2, CTNNA3, CTNNB1
98.9ACTN2, CTNNA3, CTNNB1
108.9ACTN2, CTNNA3, CTNNB1
118.8CDH2, CTNNA3, CTNNB1, JUP
128.8CDH2, DES, GJA1, TGFB3
13
Show member pathways
8.7CTNNA3, CTNNB1, JUP, TGFB3
148.7CTNNA3, CTNNB1, JUP, TGFB3
15
Show member pathways
8.6CTNNB1, DSG2, DSP, LMNA
16
Show member pathways
8.6ACTN2, CDH2, CTNNB1, JUP
178.4DSP, GJA1, JUP, LMNA, RYR2
188.2ACTN2, CDH2, CTNNA3, CTNNB1, JUP
19
Show member pathways
7.6ACTN2, CDH2, CTNNA3, CTNNB1, JUP, TGFB3
20
Show member pathways
7.6ACTN2, CDH2, CTNNA3, CTNNB1, JUP, TGFB3
217.5ACTN2, CDH2, CTNNA3, CTNNB1, DSP, GJA1
22
Show member pathways
4.7ACTN2, 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:

idNameGO IDScoreTop Affiliating Genes
1fascia adherensGO:000591610.4GJA1, JUP
2cell-cell junctionGO:00059119.6CDH2, DSG2, JUP
3intercalated discGO:00147049.2CDH2, DSC2, DSG2, GJA1, JUP
4plasma membraneGO:00058868.6DSC2, DSG2, DSP, JUP, PKP2, TGFB3

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1ventricular cardiac muscle cell action potentialGO:008600510.5PKP2, RYR2
2bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:008607310.5DSC2, DSG2
3regulation of heart rate by cardiac conductionGO:008609110.3DSG2, DSP
4cellular response to indole-3-methanolGO:007168110.2CTNNB1, JUP
5response to progesteroneGO:003257010.1DSG2, TGFB3
6regulation of ventricular cardiac muscle cell action potentialGO:009891110.1DSP, JUP, RYR2
7embryonic heart tube developmentGO:003505010.1CTNNB1, GJA1
8cell junction assemblyGO:00343299.9CDH2, JUP
9regulation of heart contractionGO:00080169.8DES, GJA1
10programmed cell deathGO:00125019.5DSG2, DSP, LMNA
11in utero embryonic developmentGO:00017019.5CTNNB1, GJA1, TGFB3
12positive regulation of osteoblast differentiationGO:00456699.2CTNNB1, GJA1, LMNA
13regulation of cell proliferationGO:00421279.1CTNNB1, JUP, TGFB3
14adherens junction organizationGO:00343329.1CDH2, CTNNB1, DSP, JUP
15single organismal cell-cell adhesionGO:00163378.8CTNNA3, CTNNB1, DSP, JUP, PKP2
16apoptotic processGO:00069158.6DSG2, DSP, GJA1, LMNA
17cell adhesionGO:00071558.3ACTN2, CDH2, CTNNB1, DSC2

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