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 ⁵⁸

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Left Dominant Form ⁵⁸

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the circulatory system

Other forms of heart disease

Cardiomyopathy

Other cardiomyopathies

External Ids:

ICD10 via Orphanet ³³ I42.8

Orphanet ⁵⁸ 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. Affiliated tissues include heart and skin, 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 top 50) (show all 92)

#	Related Disease	Score	Top Affiliating Genes
1	grover's disease	10.2	JUP DSP
2	epidermolysis bullosa, lethal acantholytic	10.2	JUP DSP
3	diffuse palmoplantar keratoderma	10.2	JUP DSP
4	mobitz type ii atrioventricular block	10.1	LMNA LDB3
5	ritter's disease	10.1	DSP DSG2 DSC2
6	paraneoplastic pemphigus	10.1	DSP DSG2 DSC2
7	bullous skin disease	10.1	DSP DSG2 DSC2
8	benign chronic pemphigus	10.1	JUP DSP
9	palmoplantar keratoderma and woolly hair	10.1	JUP DSP DSC2
10	ectodermal dysplasia/skin fragility syndrome	10.1	JUP DSP DSC2
11	darier-white disease	10.1	JUP DSP DSC2
12	ventricular fibrillation, paroxysmal familial, 1	10.1	RYR2 DSP
13	right bundle branch block	10.1	PKP2 DSG2
14	pemphigus vulgaris, familial	10.1	JUP DSP DSG2
15	myopathy, myofibrillar, 3	10.0	TTN LDB3
16	autosomal recessive limb-girdle muscular dystrophy type 2a	10.0	TTN LMNA
17	myopathy, myofibrillar, 4	10.0	TTN LDB3
18	hair disease	10.0	LMNA DSP DSC2
19	brugada syndrome 1	10.0	RYR2 LDB3
20	left ventricular noncompaction 1	10.0	PKP2 LDB3 JUP
21	myopathy, myofibrillar, 9, with early respiratory failure	10.0	TTN LDB3
22	syncope	9.9	TTN RYR2
23	pemphigus	9.9	JUP DSP DSG2 DSC2
24	congenital structural myopathy	9.9	TTN RYR2
25	emery-dreifuss muscular dystrophy 5, autosomal dominant	9.9	TMEM43 LMNA
26	myopathy, myofibrillar, 1	9.9	TTN LMNA LDB3
27	cardiomyopathy, dilated, 1b	9.9	TTN LMNA DSP
28	emery-dreifuss muscular dystrophy 3, autosomal recessive	9.9	TMEM43 LMNA
29	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	9.9	RYR2 PKP2 DSP
30	emery-dreifuss muscular dystrophy 4, autosomal dominant	9.9	TMEM43 LMNA
31	tibial muscular dystrophy	9.9	TTN LDB3
32	charcot-marie-tooth disease, axonal, type 2b1	9.9	TMEM43 LMNA
33	emery-dreifuss muscular dystrophy 1, x-linked	9.9	TMEM43 LMNA
34	rigid spine muscular dystrophy 1	9.9	TTN LMNA LDB3
35	myofibrillar myopathy	9.9	TTN LMNA LDB3
36	myopathy, x-linked, with postural muscle atrophy	9.9	TMEM43 LMNA
37	cardiomyopathy, dilated, 1dd	9.8	TTN RYR2 LDB3
38	nonaka myopathy	9.8	TTN LDB3
39	atrial fibrillation	9.8	TTN RYR2 LMNA
40	atrioventricular block	9.8	TTN RYR2 LMNA
41	isolated elevated serum creatine phosphokinase levels	9.8	TTN RYR2 LMNA
42	lmna-related dilated cardiomyopathy	9.8	TTN LMNA DSP DSC2
43	ebstein anomaly	9.8	TMEM43 LDB3
44	cardiac conduction defect	9.8	RYR2 LMNA DSP DSG2
45	long qt syndrome 1	9.7	RYR2 PKP2 DSP DSG2
46	cardiac arrhythmia	9.7	RYR2 PKP2 JUP DSP
47	cardiac arrest	9.7	TTN RYR2 DSP DSG2
48	palmoplantar keratosis	9.7	PKP2 JUP DSP DSG2 DSC2
49	cardiomyopathy, dilated, 1e	9.7	TTN PKP2 LMNA DSP
50	emery-dreifuss muscular dystrophy 2, autosomal dominant	9.6	TTN TMEM43 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	9.93	CTNNA3 DSC2 DSG2 DSP JUP LDB3
2	mortality/aging	MP:0010768	9.7	CTNNA3 DSG2 DSP JUP LDB3 LMNA
3	muscle	MP:0005369	9.28	CTNNA3 DSG2 DSP JUP LDB3 LMNA

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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:

⁴⁰

Heart, Skin

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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	PubMed IDs
1	CTNNA3	Catenin Alpha 3	Protein Coding	350	Causative germline mutation ⁵⁸	23136403
2	DSC2	Desmocollin 2	Protein Coding	350	Causative germline mutation ⁵⁸	20301310
3	DSG2	Desmoglein 2	Protein Coding	350	Causative germline mutation ⁵⁸	20301310
4	DSP	Desmoplakin	Protein Coding	350	Causative germline mutation ⁵⁸	20301310
5	JUP	Junction Plakoglobin	Protein Coding	350	Causative germline mutation ⁵⁸	20301310
6	LDB3	LIM Domain Binding 3	Protein Coding	350	Causative germline mutation ⁵⁸	25041374
7	LMNA	Lamin A/C	Protein Coding	350	Causative germline mutation ⁵⁸	23736219 22199124
8	PKP2	Plakophilin 2	Protein Coding	350	Causative germline mutation ⁵⁸	20301310
9	RYR2	Ryanodine Receptor 2	Protein Coding	350	Causative germline mutation ⁵⁸	20301310
10	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	350	Causative germline mutation ⁵⁸	20301310
11	TMEM43	Transmembrane Protein 43	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	20301310
12	TTN	Titin	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	21810661

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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 ⁶⁵ Show member pathways Formation of the cornified envelope ⁶⁵	12.01	PKP2 JUP DSP DSG2 DSC2
2	Dilated cardiomyopathy ³⁶ Show member pathways Hypertrophic cardiomyopathy ³⁶	11.89	TTN TGFB3 RYR2 LMNA
3	Apoptotic cleavage of cellular proteins ⁶⁵ Show member pathways Apoptotic cleavage of cell adhesion proteins ⁶⁵ Apoptotic execution phase ⁶⁵ Caspase-mediated cleavage of cytoskeletal proteins ⁶⁵	11.61	LMNA DSP DSG2
4	Arrhythmogenic right ventricular cardiomyopathy ³⁶ ¹	11.41	RYR2 PKP2 LMNA JUP DSP DSG2
5	Cell adhesion_Endothelial cell contacts by non-junctional mechanisms ²³	11.03	JUP CTNNA3
6	Cell adhesion_Cadherin-mediated cell adhesion ²³	11.01	JUP CTNNA3
7	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	11	RYR2 LMNA JUP DSP
8	Cell adhesion_Endothelial cell contacts by junctional mechanisms ²³	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	9.85	PKP2 JUP DSP DSG2 DSC2
2	cell-cell junction	GO:0005911	9.77	PKP2 JUP DSP DSG2 DSC2
3	intermediate filament	GO:0005882	9.73	PKP2 LMNA JUP DSP
4	Z disc	GO:0030018	9.71	TTN RYR2 LDB3 JUP
5	adherens junction	GO:0005912	9.65	PKP2 LDB3 JUP DSC2 CTNNA3
6	intercalated disc	GO:0014704	9.55	PKP2 JUP DSP DSG2 DSC2
7	fascia adherens	GO:0005916	9.5	JUP DSP CTNNA3
8	cornified envelope	GO:0001533	9.35	PKP2 JUP DSP DSG2 DSC2
9	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 17)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell adhesion	GO:0007155	9.85	PKP2 JUP DSG2 DSC2 CTNNA3
2	keratinization	GO:0031424	9.8	PKP2 JUP DSP DSG2 DSC2
3	cell-cell adhesion	GO:0098609	9.73	PKP2 JUP DSP DSG2 DSC2 CTNNA3
4	cornification	GO:0070268	9.72	PKP2 JUP DSP DSG2 DSC2
5	regulation of heart rate by cardiac conduction	GO:0086091	9.63	PKP2 JUP DSP DSG2 DSC2 CTNNA3
6	adherens junction organization	GO:0034332	9.57	JUP DSP
7	cardiac muscle contraction	GO:0060048	9.56	TTN RYR2
8	response to progesterone	GO:0032570	9.55	TGFB3 DSG2
9	sarcomere organization	GO:0045214	9.54	TTN LDB3
10	desmosome organization	GO:0002934	9.54	PKP2 DSP DSG2
11	ventricular cardiac muscle cell action potential	GO:0086005	9.52	RYR2 PKP2
12	cell communication by electrical coupling involved in cardiac conduction	GO:0086064	9.51	RYR2 PKP2
13	epithelial cell-cell adhesion	GO:0090136	9.49	DSP CTNNA3
14	cardiac muscle hypertrophy	GO:0003300	9.48	TTN RYR2
15	desmosome assembly	GO:0002159	9.43	PKP2 JUP
16	bundle of His cell-Purkinje myocyte adhesion involved in cell communication	GO:0086073	9.43	PKP2 JUP DSP DSG2 DSC2 CTNNA3
17	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	structural molecule activity	GO:0005198	9.54	LMNA JUP DSP
2	cell adhesion molecule binding	GO:0050839	9.33	JUP DSP DSG2
3	muscle alpha-actinin binding	GO:0051371	9.32	TTN LDB3
4	alpha-catenin binding	GO:0045294	9.26	PKP2 JUP
5	protein kinase C binding	GO:0005080	9.13	PKP2 LDB3 DSP
6	cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication	GO:0086083	9.02	PKP2 JUP DSP DSG2 DSC2

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