Arrhythmogenic Right Ventricular Dysplasia malady

Genetics Home Reference: 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.¹⁷

MalaCards: Arrhythmogenic Right Ventricular Dysplasia, also known as arvd, is related to naxos disease and arrhythmogenic right ventricular dysplasia/cardiomyopathy 5. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia is RYR2 (ryanodine receptor 2 (cardiac)), and among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and Arrhythmogenic right ventricular cardiomyopathy (ARVC). The compounds 4-chloro-m-cresol and cyclic adp-ribose have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and skin, and related mouse phenotypes are muscle and cardiovascular system.

Wikipedia: Arrhythmogenic right ventricular dysplasia (ARVD), also called arrhythmogenic right ventricular...⁴⁴ more...

GeneReviews summary for arvd

Aliases & Descriptions:

arrhythmogenic right ventricular dysplasia 6 7 15 30 16 17 8 32 43 arvd 6 15 30 16 17 arrhythmogenic right ventricular cardiomyopathy 15 30 16 17 arvc 15 30 16 17 arrhythmogenic right ventricular dysplasia/cardiomyopathy 6 16 arrhythmogenic right ventricular dysplasia/cardiomyopathy, autosomal dominant 15

arrhythmogenic right ventricular dysplasia, familial, 1 (disorder) 43 arrhythmogenic right ventricular cardiomyopathy 1 6 ventricular dysplasia, right, arrhythmogenic 17 right ventricular dysplasia, arrhythmogenic 17 dysplasia 43

Diseases related to arrhythmogenic right ventricular dysplasia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 837)

id	Related Disease	Score	Top Affiliating Genes
1	naxos disease	35.6	DSP, JUP, PKP2, DSC2
2	arrhythmogenic right ventricular dysplasia/cardiomyopathy 5	34.4	ARVD5, TMEM43
3	arrhythmogenic right ventricular dysplasia 1	34.4	ARVD1, TGFB3
4	arrhythmogenic right ventricular dysplasia-3	34.3	ARVD1, ARVD3
5	arrhythmogenic right ventricular dysplasia 5	34.3	RPSA, ARVD5
6	keratoderma	34.0	JUP, DSC2, DSP
7	squamous cell carcinoma	31.9	PKP2, JUP, TGFB3, DSC2, DSC3, DSG2
8	sudden cardiac death multi-gene panels	31.1	RYR2, NPPB, ACE, SCN5A, FKBP1B
9	arrhythmogenic right ventricular dysplasia/cardiomyopathy multi-gene panels	31.0	RYR2, RYR1, NPPB, DSP, DSG2, DSC2
10	myopathy	30.6	PTPLA, MYOZ2, ARVD7, TMEM43, NPPB, RYR2
11	syncope	29.4	ACE, MYOZ2, SCN5A, NPPB, RYR2
12	muscular dystrophy	25.7	MYOZ2, TMEM43, NPPB, RYR2, ACE
13	palmoplantar keratosis	25.1	JUP, DSC2, DSP, PKP2
14	congenital heart defect	24.3	RYR2, DSP, NPPB
15	sinusitis	23.1	NPPB, ACE, SCN5A, DSC2, DSG2, DSP
16	dilated cardiomyopathy with woolly hair and keratoderma	13.4	DSP, JUP
17	hailey-hailey disease	13.3	DSP, DSC2, JUP
18	central core myopathy	13.2	RYR2, RYR1
19	catecholaminergic polymorphic ventricular tachycardia	13.2	FKBP1B, RYR2
20	arachnoiditis	13.2	DSP, DSC2, PKP2, DSG2
21	left ventricular noncompaction	13.1	RYR2, FKBP1B, SCN5A
22	brugada syndrome	13.1	RYR2, SCN5A, PKP2, TGFB3
23	mongolian spot	13.0	JUP, DSP
24	keratosis	13.0	PKP2, DSP, DSG2, JUP
25	pemphigus foliaceus	12.9	DSG2, DSP, ACE
26	ventricular extrasystoles with syncopal episodes - perodactyly - robin sequence	12.9	NPPB, RYR2
27	pemphigus vulgaris	12.9	DSP, DSC3, JUP, DSG2
28	van der woude syndrome	12.8	TGFB3, IRF6
29	long qt syndrome	12.7	RYR2, FKBP1B, SCN5A
30	congenital heart block	12.6	NPPB, SCN5A
31	autosomal dominant disease	12.5	TMEM43, JUP, PKP2, DSC2, DSG2, DSP
32	ventricular fibrillation	12.3	NPPB, SCN5A, FKBP1B, RYR2
33	myasthenia gravis	12.3	MYOZ2, ACE, RYR2, RYR1
34	congenital myasthenic syndrome	12.3	RYR1, RYR2, ACE, MYOZ2
35	pemphigus	12.2	DSG2, DSC2, ACE, JUP, DSC3, DSP
36	congestive heart failure	11.9	NPPB, DSG2, ACE, SCN5A
37	mitral valve insufficiency	11.8	NPPB, ACE
38	atrial fibrillation	11.7	NPPB, ACE, FKBP1B, SCN5A, RYR2
39	familial hypertrophic cardiomyopathy	11.7	FKBP1B, NPPB, ACE, MYOZ2
40	myotonic dystrophy	11.7	CELF2, RYR1, ACE, MYOZ2
41	hypertrophy of breast	11.6	RYR2, NPPB, TGFB3, ACE, MYOZ2
42	hypertrophic cardiomyopathy	11.4	RYR2, NPPB, TGFB3, ACE, MYOZ2, FKBP1B
43	cardiomyopathy	11.1
44	dmd-associated dilated cardiomyopathy	10.7	DSC2, DSG2, DSP, TGFB3, NPPB, RYR2
45	arrhythmogenic right ventricular dysplasia/cardiomyopathy10	9.8
46	arrhythmogenic right ventricular dysplasia/cardiomyopathy11	9.8
47	arrhythmogenic right ventricular dysplasia/cardiomyopathy12	9.8
48	multiple epiphyseal dysplasia	9.7
49	hypohidrotic ectodermal dysplasia	9.6
50	bronchopulmonary dysplasia	9.6

Approved drugs:

Drug clinical trials:

Genetic tests related to arrhythmogenic right ventricular dysplasia:

id	Genetic test	Affiliating Genes
1	Arrhythmogenic Right Ventricular Dysplasia clinical/research	JUP, TMEM43, PKP2, DSC2, DSC3, DSG2, DSP, TGFB3, RYR2

MalaCards organs/tissues related to arrhythmogenic right ventricular dysplasia:

²²

MGI Mouse Phenotypes related to arrhythmogenic right ventricular dysplasia:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle phenotype	MP:0005369	7.7	RYR1, NPPB, PKP2, FKBP1B, JUP, SCN5A
2	cardiovascular system phenotype	MP:0005385	6.7	MYOZ2, RYR2, RYR1, NPPB, TGFB3, ACE
3	mortality/aging	MP:0010768	6.0	DSC3, DSG2, DSP, TGFB3, RYR1, RYR2

Articles related to arrhythmogenic right ventricular dysplasia:

(show all 25)

id	Title	Authors	Year	Affiliating Genes
1	Arrhythmogenic right ventricular dysplasia/cardiomyop athy diagnostic task force criteria: impact of new task force criteria. (20215590)	Cox M.G.... Hauer R.N.	2010	DSG2, DSP, PKP2
2	Mutations of plakophilin-2 in Chinese with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (19427443)	Qiu X.... Zhang L.	2009	PKP2
3	Comprehensive desmosome mutation analysis in north am ericans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (20031617)	den Haan A.D.... Judge D.P.	2009	JUP, DSG2, DSP
4	Arrhythmogenic right ventricular dysplasia: clinical characteristics and identification of novel desmosome gene mutations. (18632414)	Yu C.C.... Lai L.P.	2008	DSG2, DSP, PKP2
5	QRS fragmentation in standard ECG as a diagnostic marker of arrhythmogenic right ventricular dysplasia-cardiomyopathy. (18783995)	Peters S.... Koehler B.	2008	PKP2
6	Gap junction remodeling in a case of arrhythmogenic right ventricular dysplasia due to plakophilin-2 mutation. (18554203)	Tandri H.... Calkins H.	2008	PKP2
7	Angiotensin-converting enzyme gene polymorphism in arrhythmogenic right ventricular dysplasia: is DD genotype helpful in predicting syncope risk? (19126662)	Ozben B.... Adalet K.	2008	ACE
8	Arrhythmogenic right ventricular dysplasia. (18596851)	Calkins H.	2008	DSG2, DSP, PKP2
9	Molecular composition of the intercalated disc in a s pontaneous canine animal model of arrhythmogenic right ventricular dysplasia/ca rdiomyopathy. (17765621)	Oxford E.M.... Delmar M.	2007	DSP, PKP2
10	Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (17010805)	Dalal D.... Judge D.P.	2006	PKP2
11	Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. (17033975)	Syrris P.... McKenna W.J.	2006	DSG2, PKP2, DSC2
12	Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. (16549640)	Dalal D.... Judge D.P.	2006	PKP2
13	Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. (16917092)	Yang Z.... Towbin J.A.	2006	DSG2, DSP, PKP2
14	Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2. (17041889)	Awad M.M.... Judge D.P.	2006	PKP2
15	Arrhythmogenic right ventricular dysplasia, a cell adhesion cardiomyopathy: insights into disease pathogenesis from preliminary genotype--phenotype assessment. (16698823)	Tsatsopoulou A.A.... McKenna W.J.	2006	JUP, DSP
16	Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. (16567567)	van Tintelen J.P.... Hauer R.N.	2006	PKP2
17	DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. (16773573)	Awad M.M.... Judge D.P.	2006	DSG2
18	Arrhythmogenic right ventricular dysplasia type 1 and mutations in transforming growth factor beta3 gene regulatory regions: a breakthrough? (15639468)	Nattel S.... Schott J.J.	2005	TGFB3
19	Arrhythmogenic right ventricular dysplasia/cardiomyopathy. (16283974)	Prakasa K.R.... Calkins H.	2005	PKP2
20	A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair. (12875771)	Alcalai R.... Chajek-Shaul T.	2003	DSP
21	Genomic organization and isoform-specific tissue expression of human NAPOR (CUGBP2) as a candidate gene for familial arrhythmogenic right ventricular dysplasia. (11414768)	Li D.... Roberts R.	2001	CELF2
22	The locus of a novel gene responsible for arrhythmogenic right-ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14. (10631146)	Li D.... Roberts R.	2000	TMEM43, ARVD6
23	Diagnostic value of plasma levels of brain natriuretic peptide in arrhythmogenic right ventricular dysplasia. (9832489)	Matsuo K.... Shimomura K.	1998	NPPB
24	Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23. (9860777)	Ahmad F.... Roberts R.	1998	TMEM43, ARVD5
25	A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14. (8824801)	Severini G.M.... Mestroni L.	1996	ARVD3

Genes related to arrhythmogenic right ventricular dysplasia according to GeneCards:

(show all 28)

id	Symbol	Description	Score	GeneCards Section Context
1	RYR2	ryanodine receptor 2 (cardiac)	11.2	Summaries, Aliases & Descriptions
2	TMEM43	transmembrane protein 43	11.1	Publications, Summaries
3	DSC2	desmocollin 2	11.1	Summaries, Publications
4	DSG2	desmoglein 2	11.1	Summaries, Publications
5	TGFB3	transforming growth factor, beta 3	11.1	Publications, Summaries
6	ARVD5	arrhythmogenic right ventricular dysplasia 5	11.1	Publications, Aliases & Descriptions
7	ARVD1	arrhythmogenic right ventricular dysplasia 1	11.1	Aliases & Descriptions
8	ARVD6	arrhythmogenic right ventricular dysplasia 6	11.1	Publications, Aliases & Descriptions
9	ARVD4	arrhythmogenic right ventricular dysplasia 4	11.1	Aliases & Descriptions
10	ARVD7	Arrhythmogenic right ventricular dysplasia, familial, 7	11.1	Aliases & Descriptions
11	ARVD3	arrhythmogenic right ventricular dysplasia 3	11.1	Publications, Aliases & Descriptions
12	PKP2	plakophilin 2	11.1	Publications
13	JUP	junction plakoglobin	11.1	Publications
14	DSP	desmoplakin	11.1	Publications
15	RPSA	ribosomal protein SA	11.1
16	SCN5A	sodium channel, voltage-gated, type V, alpha subunit	11.1
17	RYR1	ryanodine receptor 1 (skeletal)	11.1
18	MRGPRE	MAS-related GPR, member E	11.0	Disorders
19	GZMM	granzyme M (lymphocyte met-ase 1)	11.0	Disorders
20	PTPLA	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	11.0
21	ISM2	isthmin 2 homolog (zebrafish)	11.0	Disorders
22	FKBP1B	FK506 binding protein 1B, 12.6 kDa	11.0
23	DSC3	desmocollin 3	11.0
24	MYOZ2	myozenin 2	11.0
25	IRF6	interferon regulatory factor 6	11.0
26	CELF2	CUGBP, Elav-like family member 2	11.0	Publications
27	NPPB	natriuretic peptide B	11.0	Publications
28	ACE	angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	11.0	Publications

Pathways related to arrhythmogenic right ventricular dysplasia according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Antiarrhythmic Pathway, Pharmacodynamics34	9.3	SCN5A, JUP, FKBP1B, DSP, RYR2
2	Arrhythmogenic right ventricular cardiomyopathy (ARVC)20	9.1	JUP, RYR2, DSP, DSG2, DSC2, PKP2

Compounds related to arrhythmogenic right ventricular dysplasia according to GeneDecks:

(show all 15)

id	Compound	Score	Top Affiliating Genes
1	4-chloro-m-cresol32	10.3	RYR2, RYR1
2	cyclic adp-ribose32	10.1	RYR1, RYR2
3	celiprolol32	9.4	NPPB, ACE
4	candoxatril32 9 9	11.4	NPPB, ACE
5	alacepril32	9.3	NPPB, ACE
6	imidapril32	9.3	ACE, NPPB
7	thapsigargin32 42	10.1	RYR2, RYR1, NPPB, DSP
8	trandolapril32 9 9	11.0	NPPB, ACE
9	digoxin32 42 34 9 18 9	14.0	RYR1, NPPB, ACE
10	isoproterenol32 9 9	11.0	FKBP1B, NPPB, RYR1, RYR2
11	tacrolimus32 34 9 9	11.9	FKBP1B, NPPB, RYR1, RYR2
12	bisoprolol32 9 9	10.8	ACE, NPPB
13	ryanodine32	8.7	JUP, FKBP1B, DSP, NPPB, RYR1, RYR2
14	carvedilol32 34 9 9	11.6	RYR2, RYR1, NPPB, ACE, FKBP1B
15	calcium32 9 18 9	9.7	RYR2, RYR1, NPPB, DSP, DSG2, DSC3

Cellular components related to arrhythmogenic right ventricular dysplasia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	junctional sarcoplasmic reticulum membrane	GO:014701	10.1	RYR1, RYR2
2	T-tubule	GO:030315	9.9	SCN5A, TGFB3, RYR1
3	calcium channel complex	GO:034704	9.7	FKBP1B, RYR2
4	cell-cell junction	GO:005911	9.5	DSG2, DSC3, PKP2, JUP
5	desmosome	GO:030057	9.2	JUP, DSP, DSG2, DSC3, DSC2, PKP2
6	plasma membrane	GO:005886	7.1	RYR2, RYR1, TGFB3, DSP, DSG2, DSC3

Biological processes related to arrhythmogenic right ventricular dysplasia according to GeneDecks:

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	regulation of ventricular cardiac muscle cell action potential	GO:086005	10.3	SCN5A, RYR2
2	cellular response to caffeine	GO:071313	10.2	RYR1, RYR2
3	response to caffeine	GO:031000	10.1	RYR1, RYR2
4	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	GO:010881	10.0	RYR2, FKBP1B
5	release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	GO:014808	9.9	FKBP1B, RYR1, RYR2
6	response to redox state	GO:051775	9.9	FKBP1B, RYR2
7	skin development	GO:043588	9.6	RYR1, DSP, IRF6
8	regulation of vasodilation	GO:042312	9.1	ACE, NPPB
9	response to hypoxia	GO:001666	8.8	RYR2, RYR1, NPPB, TGFB3

Molecular functions related to arrhythmogenic right ventricular dysplasia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	calcium-release channel activity	GO:015278	10.1	RYR1, RYR2
2	ryanodine-sensitive calcium-release channel activity	GO:005219	9.4	FKBP1B, RYR1, RYR2