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 ritter's disease and grover's disease. 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 top 50) (show all 88)

#	Related Disease	Score	Top Affiliating Genes
1	ritter's disease	10.3	DSG2 DSC2
2	grover's disease	10.3	JUP DSP
3	epidermolysis bullosa, lethal acantholytic	10.3	JUP DSP
4	diffuse palmoplantar keratoderma	10.3	JUP DSP
5	paraneoplastic pemphigus	10.1	DSP DSG2 DSC2
6	bullous skin disease	10.1	DSP DSG2 DSC2
7	palmoplantar keratoderma and woolly hair	10.1	JUP DSP DSC2
8	ectodermal dysplasia/skin fragility syndrome	10.1	JUP DSP DSC2
9	ectodermal dysplasia	10.1	JUP DSP DSC2
10	benign chronic pemphigus	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	reducing body myopathy 1a	10.1	TTN LDB3
14	pemphigus vulgaris, familial	10.1	JUP DSP DSG2
15	keratosis	10.1	LMNA DSP DSG2
16	autosomal recessive limb-girdle muscular dystrophy type 2g	10.0	TTN LMNA
17	cardiac sarcoidosis	10.0	PKP2 DSP
18	hair disease	10.0	LMNA DSP DSC2
19	autosomal recessive limb-girdle muscular dystrophy type 2a	10.0	TTN LMNA
20	myopathy, myofibrillar, 9, with early respiratory failure	10.0	TTN LDB3
21	cardiomyopathy, dilated, 1b	10.0	TTN LMNA
22	syncope	9.9	TTN RYR2
23	familial isolated dilated cardiomyopathy	9.9	TTN LDB3 DSG2
24	autosomal recessive limb-girdle muscular dystrophy type 2d	9.9	TTN LMNA
25	tibial muscular dystrophy	9.9	TTN LDB3
26	pemphigus	9.9	JUP DSP DSG2 DSC2
27	cardiac conduction defect	9.9	RYR2 LMNA DSP
28	myopathy, myofibrillar, 3	9.9	TTN LDB3
29	cardiomyopathy, dilated, 1h	9.8	TMEM43 LMNA
30	cardiomyopathy, dilated, 1e	9.8	TTN LMNA DSP
31	emery-dreifuss muscular dystrophy 5, autosomal dominant	9.8	TMEM43 LMNA
32	myopathy, myofibrillar, 1	9.8	TTN LMNA LDB3
33	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	9.8	RYR2 PKP2 DSP
34	emery-dreifuss muscular dystrophy 3, autosomal recessive	9.8	TMEM43 LMNA
35	emery-dreifuss muscular dystrophy 4, autosomal dominant	9.8	TMEM43 LMNA
36	charcot-marie-tooth disease, axonal, type 2b1	9.8	TMEM43 LMNA
37	emery-dreifuss muscular dystrophy 1, x-linked	9.8	TMEM43 LMNA
38	myofibrillar myopathy	9.8	TTN LMNA LDB3
39	long qt syndrome 1	9.8	RYR2 PKP2 DSP
40	myopathy, x-linked, with postural muscle atrophy	9.8	TMEM43 LMNA
41	cardiomyopathy, dilated, 1dd	9.7	TTN RYR2 LDB3
42	atrial fibrillation	9.7	TTN RYR2 LMNA
43	cardiomyopathy, dilated, 1a	9.7	TMEM43 LMNA
44	congenital structural myopathy	9.7	TTN RYR2
45	isolated elevated serum creatine phosphokinase levels	9.7	TTN RYR2 LMNA
46	atrioventricular block	9.7	TTN RYR2 LMNA
47	right bundle branch block	9.7	PKP2 DSG2
48	cardiac arrhythmia	9.7	RYR2 PKP2
49	restrictive cardiomyopathy	9.6	TTN LMNA DSP DSG2
50	congestive heart failure	9.6	TTN RYR2 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:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	10.03	CTNNA3 DSC2 DSG2 DSP JUP LDB3
2	mortality/aging	MP:0010768	9.7	CTNNA3 DSG2 DSP JUP LDB3 LMNA
3	embryo	MP:0005380	9.63	DSP JUP RYR2 TGFB3 TMEM43 TTN
4	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

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

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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 (DCM) ³⁶ Show member pathways Hypertrophic cardiomyopathy (HCM) ³⁶	11.89	TTN TGFB3 RYR2 LMNA
3	Arrhythmogenic right ventricular cardiomyopathy (ARVC) ³⁶ Show member pathways Arrhythmogenic Right Ventricular Cardiomyopathy ¹	11.41	RYR2 PKP2 LMNA JUP DSP DSG2
4	Cell adhesion_Endothelial cell contacts by non-junctional mechanisms ²²	11.01	JUP CTNNA3
5	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	11	RYR2 LMNA JUP DSP
6	Cell adhesion_Cadherin-mediated cell adhesion ²²	10.97	JUP CTNNA3
7	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	9.85	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 15)

#	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	skin development	GO:0043588	9.55	JUP DSP
7	response to progesterone	GO:0032570	9.54	TGFB3 DSG2
8	desmosome organization	GO:0002934	9.54	PKP2 DSP DSG2
9	sarcomere organization	GO:0045214	9.52	TTN LDB3
10	ventricular cardiac muscle cell action potential	GO:0086005	9.51	RYR2 PKP2
11	cell communication by electrical coupling involved in cardiac conduction	GO:0086064	9.49	RYR2 PKP2
12	cardiac muscle hypertrophy	GO:0003300	9.48	TTN RYR2
13	desmosome assembly	GO:0002159	9.43	PKP2 JUP
14	bundle of His cell-Purkinje myocyte adhesion involved in cell communication	GO:0086073	9.43	PKP2 JUP DSP DSG2 DSC2 CTNNA3
15	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	cell adhesion molecule binding	GO:0050839	9.33	JUP DSP DSG2
2	muscle alpha-actinin binding	GO:0051371	9.32	TTN LDB3
3	alpha-catenin binding	GO:0045294	9.26	PKP2 JUP
4	protein kinase C binding	GO:0005080	9.13	PKP2 LDB3 DSP
5	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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