Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left...

MalaCards integrated aliases for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form:

Name: Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form ⁵⁹

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Left Dominant Form ⁵⁹

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the circulatory system

Other forms of heart disease

Cardiomyopathy

Other cardiomyopathies

External Ids:

Orphanet ⁵⁹ ORPHA293888

ICD10 via Orphanet ³⁴ I42.8

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Summaries for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left...

MalaCards based summary : Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form, also known as familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form, is related to emery-dreifuss muscular dystrophy 2, autosomal dominant and muscular dystrophy, limb-girdle, type 2j. An important gene associated with Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form is RYR2 (Ryanodine Receptor 2), and among its related pathways/superpathways are Keratinization and Dilated cardiomyopathy (DCM). Related phenotypes are cardiovascular system and mortality/aging

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Related Diseases for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left...

Diseases related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)

#	Related Disease	Score	Top Affiliating Genes
1	emery-dreifuss muscular dystrophy 2, autosomal dominant	10.5	LMNA TMEM43
2	muscular dystrophy, limb-girdle, type 2j	10.4	LDB3 TTN
3	myopathy, myofibrillar, 3	10.4	LDB3 TTN
4	myopathy, spheroid body	10.3	LDB3 TTN
5	cardiomyopathy, dilated, 1a	10.2	LDB3 LMNA
6	ventricular fibrillation, paroxysmal familial, 1	10.1	DSP RYR2
7	arrhythmogenic right ventricular dysplasia, familial, 2	10.0	JUP RYR2
8	muscular dystrophy, congenital, lmna-related	10.0	LMNA TTN
9	hidradenitis suppurativa	9.9	DSC2 DSG2
10	cardiac conduction defect	9.9	DSP LMNA RYR2
11	hidradenitis	9.9	DSC2 DSG2
12	familial isolated dilated cardiomyopathy	9.8	DSG2 LDB3 TTN
13	cardiomyopathy, dilated, 1e	9.8	DSP LMNA TTN
14	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	9.7	DSG2 DSP RYR2
15	cardiac arrhythmia	9.6	JUP RYR2
16	grover's disease	9.6	DSP JUP
17	epidermolysis bullosa, lethal acantholytic	9.6	DSP JUP
18	cardiomyopathy, dilated, with woolly hair and keratoderma	9.6	DSP JUP
19	brugada syndrome	9.5	JUP PKP2 TMEM43
20	benign chronic pemphigus	9.5	DSP JUP
21	darier-white disease	9.5	DSP JUP
22	paraneoplastic pemphigus	9.5	DSC2 DSG2 DSP
23	palmoplantar keratoderma and woolly hair	9.1	DSC2 DSP JUP
24	ectodermal dysplasia/skin fragility syndrome	9.1	DSC2 DSP JUP
25	pemphigus vulgaris	9.0	DSG2 DSP JUP
26	pemphigus	9.0	DSG2 DSP JUP
27	hypertrophic cardiomyopathy	9.0	DSP LDB3 LMNA RYR2 TTN
28	palmoplantar keratosis	8.9	DSP JUP
29	naxos disease	8.8	DSC2 DSP JUP PKP2
30	heart disease	8.8	DSP LMNA PKP2 RYR2 TGFB3 TTN
31	arrhythmogenic right ventricular dysplasia, familial, 9	8.7	DSP JUP PKP2 RYR2 TGFB3
32	arrhythmogenic right ventricular dysplasia, familial, 8	8.3	DSP JUP PKP2 RYR2 TGFB3 TMEM43
33	arrhythmogenic right ventricular dysplasia, familial, 1	7.7	DSG2 DSP JUP PKP2 RYR2 TGFB3
34	atrial standstill 1	7.4	DSC2 DSG2 DSP JUP LMNA PKP2
35	left ventricular noncompaction	7.1	CTNNA3 DSP JUP LDB3 LMNA PKP2
36	intrinsic cardiomyopathy	6.7	DSC2 DSG2 DSP JUP LMNA PKP2
37	dilated cardiomyopathy	5.6	CTNNA3 DSC2 DSG2 DSP JUP LDB3
38	arrhythmogenic right ventricular cardiomyopathy	5.2	CTNNA3 DSC2 DSG2 DSP JUP LDB3
39	familial isolated arrhythmogenic ventricular dysplasia, right dominant form	5.2	CTNNA3 DSC2 DSG2 DSP JUP LDB3
40	familial isolated arrhythmogenic ventricular dysplasia, biventricular form	5.2	CTNNA3 DSC2 DSG2 DSP JUP LDB3

Graphical network of the top 20 diseases related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form:

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Symptoms & Phenotypes for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left...

MGI Mouse Phenotypes related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.85	CTNNA3 DSC2 DSP JUP LDB3 LMNA
2	mortality/aging	MP:0010768	9.65	LMNA PKP2 RYR2 TGFB3 TTN CTNNA3
3	muscle	MP:0005369	9.23	CTNNA3 DSP JUP LDB3 LMNA PKP2

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Drugs & Therapeutics for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left...

Search Clinical Trials , NIH Clinical Center for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form

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Genetic Tests for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left...

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Anatomical Context for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left...

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Publications for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left...

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Genes for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left...

Genes related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form (12 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	RYR2	Ryanodine Receptor 2	Protein Coding	350	Causative germline mutation ⁵⁹
2	PKP2	Plakophilin 2	Protein Coding	350	Causative germline mutation ⁵⁹
3	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	350	Causative germline mutation ⁵⁹
4	TMEM43	Transmembrane Protein 43	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
5	TTN	Titin	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
6	LMNA	Lamin A/C	Protein Coding	350	Causative germline mutation ⁵⁹
7	LDB3	LIM Domain Binding 3	Protein Coding	350	Causative germline mutation ⁵⁹
8	DSC2	Desmocollin 2	Protein Coding	350	Causative germline mutation ⁵⁹
9	DSG2	Desmoglein 2	Protein Coding	350	Causative germline mutation ⁵⁹
10	DSP	Desmoplakin	Protein Coding	350	Causative germline mutation ⁵⁹
11	JUP	Junction Plakoglobin	Protein Coding	350	Causative germline mutation ⁵⁹
12	CTNNA3	Catenin Alpha 3	Protein Coding	350	Causative germline mutation ⁵⁹

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Variations for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left...

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Expression for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left...

Search GEO for disease gene expression data for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form.

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Pathways for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left...

Pathways related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Keratinization ⁶⁶ Show member pathways Formation of the cornified envelope ⁶⁶	12.01	DSC2 DSG2 DSP JUP PKP2
2	Dilated cardiomyopathy (DCM) ³⁷ Show member pathways Hypertrophic cardiomyopathy (HCM) ³⁷	11.86	LMNA RYR2 TGFB3 TTN
3	Arrhythmogenic right ventricular cardiomyopathy (ARVC) ³⁷ Show member pathways Arrhythmogenic Right Ventricular Cardiomyopathy ¹ Calpain Protease Regulates Cellular Mechanics ⁶⁴	11.63	CTNNA3 DSC2 DSG2 DSP JUP LMNA
4	Apoptotic cleavage of cellular proteins ⁶⁶ Show member pathways Apoptotic cleavage of cell adhesion proteins ⁶⁶ Apoptotic execution phase ⁶⁶ Caspase-mediated cleavage of cytoskeletal proteins ⁶⁶	11.61	DSG2 DSP LMNA
5	Cell adhesion_Cadherin-mediated cell adhesion ²²	11.03	CTNNA3 JUP
6	Cell adhesion_Endothelial cell contacts by non-junctional mechanisms ²²	11.01	CTNNA3 JUP
7	Antiarrhythmic Pathway, Pharmacodynamics ⁶¹	11	DSP JUP LMNA RYR2
8	Cell adhesion_Endothelial cell contacts by junctional mechanisms ²²	10.94	CTNNA3 DSP JUP

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GO Terms for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left...

Cellular components related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell junction	GO:0030054	9.85	DSC2 DSG2 DSP JUP PKP2
2	intermediate filament	GO:0005882	9.71	DSP JUP LMNA PKP2
3	cell-cell junction	GO:0005911	9.67	DSG2 DSP JUP PKP2
4	Z disc	GO:0030018	9.62	JUP LDB3 RYR2 TTN
5	adherens junction	GO:0005912	9.61	CTNNA3 JUP PKP2
6	cornified envelope	GO:0001533	9.55	DSC2 DSG2 DSP JUP PKP2
7	fascia adherens	GO:0005916	9.43	CTNNA3 DSP JUP
8	intercalated disc	GO:0014704	9.35	DSC2 DSG2 DSP JUP PKP2
9	desmosome	GO:0030057	9.02	DSC2 DSG2 DSP JUP PKP2

Biological processes related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form according to GeneCards Suite gene sharing:

(show all 18)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell adhesion	GO:0007155	9.85	CTNNA3 DSC2 DSG2 JUP PKP2
2	keratinization	GO:0031424	9.72	DSC2 DSG2 DSP JUP PKP2
3	cell-cell adhesion	GO:0098609	9.67	CTNNA3 DSP JUP PKP2
4	cornification	GO:0070268	9.65	DSC2 DSG2 DSP JUP PKP2
5	regulation of heart rate by cardiac conduction	GO:0086091	9.63	CTNNA3 DSC2 DSG2 DSP JUP PKP2
6	cardiac muscle contraction	GO:0060048	9.58	RYR2 TTN
7	skin development	GO:0043588	9.57	DSP JUP
8	response to progesterone	GO:0032570	9.56	DSG2 TGFB3
9	sarcomere organization	GO:0045214	9.55	LDB3 TTN
10	adherens junction organization	GO:0034332	9.54	DSP JUP
11	positive regulation of protein secretion	GO:0050714	9.52	TGFB3 TTN
12	ventricular cardiac muscle cell action potential	GO:0086005	9.51	PKP2 RYR2
13	regulation of ventricular cardiac muscle cell action potential	GO:0098911	9.5	CTNNA3 DSC2 DSG2 DSP JUP PKP2
14	cell communication by electrical coupling involved in cardiac conduction	GO:0086064	9.49	PKP2 RYR2
15	cardiac muscle hypertrophy	GO:0003300	9.48	RYR2 TTN
16	desmosome organization	GO:0002934	9.43	DSG2 DSP
17	desmosome assembly	GO:0002159	9.4	JUP PKP2
18	bundle of His cell-Purkinje myocyte adhesion involved in cell communication	GO:0086073	9.1	CTNNA3 DSC2 DSG2 DSP JUP PKP2

Molecular functions related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	calcium ion binding	GO:0005509	9.73	DSC2 DSG2 RYR2 TTN
2	structural molecule activity	GO:0005198	9.58	DSP JUP LMNA
3	cell adhesion molecule binding	GO:0050839	9.43	DSG2 DSP JUP
4	muscle alpha-actinin binding	GO:0051371	9.37	LDB3 TTN
5	protein self-association	GO:0043621	9.33	RYR2 TMEM43 TTN
6	alpha-catenin binding	GO:0045294	9.32	JUP PKP2
7	protein kinase C binding	GO:0005080	9.13	DSP LDB3 PKP2
8	cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication	GO:0086083	9.02	DSC2 DSG2 DSP JUP PKP2

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