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:

ICD10 via Orphanet ³⁴ I42.8

Orphanet ⁵⁹ ORPHA293888

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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 grover's disease and epidermolysis bullosa, lethal acantholytic. An important gene associated with Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form is CTNNA3 (Catenin Alpha 3), and among its related pathways/superpathways are Keratinization and Dilated cardiomyopathy (DCM). Affiliated tissues include heart, and 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 44)

#	Related Disease	Score	Top Affiliating Genes
1	grover's disease	10.4	JUP DSP
2	epidermolysis bullosa, lethal acantholytic	10.4	JUP DSP
3	benign chronic pemphigus	10.4	JUP DSP
4	hidradenitis	10.3	DSG2 DSC2
5	darier-white disease	10.3	JUP DSP
6	hidradenitis suppurativa	10.3	DSG2 DSC2
7	left bundle branch hemiblock	10.3	PKP2 JUP
8	paraneoplastic pemphigus	10.2	DSP DSG2 DSC2
9	bullous skin disease	10.2	DSP DSC2
10	palmoplantar keratoderma and woolly hair	10.2	JUP DSP DSC2
11	cardiomyopathy, dilated, 1a	10.2	LMNA LDB3
12	ectodermal dysplasia/skin fragility syndrome	10.2	JUP DSP DSC2
13	myopathy, myofibrillar, 3	10.2	TTN LDB3
14	pemphigus	10.2	JUP DSP DSG2
15	ventricular fibrillation, paroxysmal familial, 1	10.1	RYR2 DSP
16	myopathy, spheroid body	10.1	TTN LDB3
17	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	10.0	RYR2 DSP DSG2
18	arrhythmogenic right ventricular dysplasia, familial, 4	10.0	TGFB3 PKP2
19	familial isolated dilated cardiomyopathy	9.9	TTN LDB3 DSG2
20	cardiac conduction defect	9.9	RYR2 LMNA DSP
21	cardiomyopathy, dilated, 1e	9.9	TTN LMNA DSP
22	sick sinus syndrome	9.9	TTN LMNA
23	myofibrillar myopathy	9.8	TTN LMNA LDB3
24	cardiac arrhythmia	9.8	RYR2 JUP
25	palmoplantar keratosis	9.8	JUP DSP
26	long qt syndrome 1	9.8	RYR2 PKP2 DSP
27	naxos disease	9.8	PKP2 JUP DSP DSC2
28	arrhythmogenic right ventricular dysplasia, familial, 2	9.7	TGFB3 RYR2 JUP
29	emery-dreifuss muscular dystrophy 2, autosomal dominant	9.7	TMEM43 LMNA
30	brugada syndrome	9.5	TMEM43 PKP2 JUP
31	muscular disease	9.4	TTN RYR2 LMNA LDB3
32	cardiomyopathy, dilated, with woolly hair and keratoderma	9.2	TGFB3 PKP2 JUP DSP DSC2
33	hypertrophic cardiomyopathy	9.1	TTN RYR2 LMNA LDB3 DSP
34	arrhythmogenic right ventricular dysplasia, familial, 9	9.0	TGFB3 RYR2 PKP2 JUP DSP
35	arrhythmogenic right ventricular dysplasia, familial, 1	8.7	TTN TGFB3 RYR2 JUP DSP DSG2
36	atrial standstill 1	8.6	TTN PKP2 LMNA JUP DSP DSG2
37	heart disease	8.4	TTN TGFB3 RYR2 PKP2 LMNA DSP
38	arrhythmogenic right ventricular dysplasia, familial, 8	8.2	TMEM43 TGFB3 RYR2 PKP2 JUP DSP
39	left ventricular noncompaction	7.5	TTN TGFB3 RYR2 PKP2 LMNA LDB3
40	intrinsic cardiomyopathy	7.4	TTN TMEM43 RYR2 PKP2 LMNA JUP
41	dilated cardiomyopathy	6.8	TTN TMEM43 RYR2 PKP2 LMNA LDB3
42	familial isolated arrhythmogenic ventricular dysplasia, biventricular form	6.2	TTN TMEM43 TGFB3 RYR2 PKP2 LMNA
43	familial isolated arrhythmogenic ventricular dysplasia, right dominant form	6.2	TTN TMEM43 TGFB3 RYR2 PKP2 LMNA
44	arrhythmogenic right ventricular cardiomyopathy	6.2	TTN TMEM43 TGFB3 RYR2 PKP2 LMNA

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	CTNNA3 DSG2 DSP JUP LDB3 LMNA
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...

MalaCards organs/tissues related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form:

⁴¹

Heart

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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	CTNNA3	Catenin Alpha 3	Protein Coding	350	Causative germline mutation ⁵⁹
2	DSC2	Desmocollin 2	Protein Coding	350	Causative germline mutation ⁵⁹
3	DSG2	Desmoglein 2	Protein Coding	350	Causative germline mutation ⁵⁹
4	DSP	Desmoplakin	Protein Coding	350	Causative germline mutation ⁵⁹
5	JUP	Junction Plakoglobin	Protein Coding	350	Causative germline mutation ⁵⁹
6	LDB3	LIM Domain Binding 3	Protein Coding	350	Causative germline mutation ⁵⁹
7	LMNA	Lamin A/C	Protein Coding	350	Causative germline mutation ⁵⁹
8	PKP2	Plakophilin 2	Protein Coding	350	Causative germline mutation ⁵⁹
9	RYR2	Ryanodine Receptor 2	Protein Coding	350	Causative germline mutation ⁵⁹
10	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	350	Causative germline mutation ⁵⁹
11	TMEM43	Transmembrane Protein 43	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
12	TTN	Titin	Protein Coding	350	Causative germline mutation (loss of function) 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	PKP2 JUP DSP DSG2 DSC2
2	Dilated cardiomyopathy (DCM) ³⁷ Show member pathways Hypertrophic cardiomyopathy (HCM) ³⁷	11.89	TTN TGFB3 RYR2 LMNA
3	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	LMNA DSP DSG2
4	Arrhythmogenic right ventricular cardiomyopathy (ARVC) ³⁷ Show member pathways Arrhythmogenic Right Ventricular Cardiomyopathy ¹	11.41	RYR2 PKP2 LMNA JUP DSP DSG2
5	Cell adhesion_Endothelial cell contacts by non-junctional mechanisms ²²	11.03	JUP CTNNA3
6	Cell adhesion_Cadherin-mediated cell adhesion ²²	11.01	JUP CTNNA3
7	Antiarrhythmic Pathway, Pharmacodynamics ⁶¹	11	RYR2 LMNA JUP DSP
8	Cell adhesion_Endothelial cell contacts by junctional mechanisms ²²	10.94	JUP DSP CTNNA3

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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	9.88	PKP2 JUP DSP DSG2 DSC2
2	intermediate filament	GO:0005882	9.71	PKP2 LMNA JUP DSP
3	cell-cell junction	GO:0005911	9.67	PKP2 JUP DSP DSG2
4	cell-cell adherens junction	GO:0005913	9.63	PKP2 JUP DSC2
5	Z disc	GO:0030018	9.62	TTN RYR2 LDB3 JUP
6	adherens junction	GO:0005912	9.61	PKP2 JUP CTNNA3
7	cornified envelope	GO:0001533	9.55	PKP2 JUP DSP DSG2 DSC2
8	fascia adherens	GO:0005916	9.43	JUP DSP CTNNA3
9	intercalated disc	GO:0014704	9.35	PKP2 JUP DSP DSG2 DSC2
10	desmosome	GO:0030057	9.02	PKP2 JUP DSP DSG2 DSC2

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	PKP2 JUP DSG2 DSC2 CTNNA3
2	keratinization	GO:0031424	9.72	PKP2 JUP DSP DSG2 DSC2
3	cell-cell adhesion	GO:0098609	9.67	PKP2 JUP DSP CTNNA3
4	cornification	GO:0070268	9.65	PKP2 JUP DSP DSG2 DSC2
5	regulation of heart rate by cardiac conduction	GO:0086091	9.63	PKP2 JUP DSP DSG2 DSC2 CTNNA3
6	cardiac muscle contraction	GO:0060048	9.58	TTN RYR2
7	skin development	GO:0043588	9.57	JUP DSP
8	adherens junction organization	GO:0034332	9.56	JUP DSP
9	sarcomere organization	GO:0045214	9.55	TTN LDB3
10	positive regulation of protein secretion	GO:0050714	9.54	TTN TGFB3
11	response to progesterone	GO:0032570	9.52	TGFB3 DSG2
12	ventricular cardiac muscle cell action potential	GO:0086005	9.51	RYR2 PKP2
13	cell communication by electrical coupling involved in cardiac conduction	GO:0086064	9.49	RYR2 PKP2
14	cardiac muscle hypertrophy	GO:0003300	9.48	TTN RYR2
15	desmosome organization	GO:0002934	9.43	DSP DSG2
16	bundle of His cell-Purkinje myocyte adhesion involved in cell communication	GO:0086073	9.43	PKP2 JUP DSP DSG2 DSC2 CTNNA3
17	desmosome assembly	GO:0002159	9.4	PKP2 JUP
18	regulation of ventricular cardiac muscle cell action potential	GO:0098911	9.17	RYR2 PKP2 JUP DSP DSG2 DSC2

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	9.76	TTN RYR2 DSG2 DSC2
2	structural molecule activity	GO:0005198	9.43	JUP DSP
3	cell adhesion molecule binding	GO:0050839	9.43	JUP DSP DSG2
4	muscle alpha-actinin binding	GO:0051371	9.37	TTN LDB3
5	protein self-association	GO:0043621	9.33	TTN TMEM43 RYR2
6	alpha-catenin binding	GO:0045294	9.32	PKP2 JUP
7	protein kinase C binding	GO:0005080	9.13	PKP2 LDB3 DSP
8	cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication	GO:0086083	9.02	PKP2 JUP DSP DSG2 DSC2
9	protein binding	GO:0005515	10.14	TTN TMEM43 TGFB3 RYR2 PKP2 LMNA

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