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

Sources

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

Sources

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 skin, and related phenotypes are cardiovascular system and mortality/aging

Sources

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 76)

#	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	cellulitis	10.1	DSP DSG2 DSC2
10	darier-white disease	10.1	JUP DSP DSC2
11	pemphigus vulgaris, familial	10.1	JUP DSP DSG2
12	ventricular fibrillation, paroxysmal familial, 1	10.1	RYR2 DSP
13	myopathy, myofibrillar, 5	10.0	TTN LDB3
14	autosomal recessive limb-girdle muscular dystrophy type 2a	10.0	TTN LMNA
15	tibial muscular dystrophy	9.9	TTN LDB3
16	cardiomyopathy, dilated, 1b	9.9	TTN LMNA
17	myopathy, myofibrillar, 3	9.9	TTN LDB3
18	benign chronic pemphigus	9.9	JUP DSP DSG2 DSC2
19	familial isolated dilated cardiomyopathy	9.9	TTN LDB3 DSG2
20	pemphigus	9.9	JUP DSP DSG2 DSC2
21	syncope	9.9	TTN RYR2
22	cardiac conduction defect	9.9	RYR2 LMNA DSP
23	muscular dystrophy, limb-girdle, autosomal dominant 1	9.8	TTN LMNA
24	cardiomyopathy, dilated, 1e	9.8	TTN LMNA DSP
25	myopathy, myofibrillar, 1	9.8	TTN LDB3
26	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	9.8	RYR2 PKP2 DSP
27	emery-dreifuss muscular dystrophy 4, autosomal dominant	9.8	TMEM43 LMNA
28	emery-dreifuss muscular dystrophy 3, autosomal recessive	9.8	TMEM43 LMNA
29	cardiac arrhythmia	9.8	RYR2 PKP2 JUP
30	emery-dreifuss muscular dystrophy 1, x-linked	9.8	TMEM43 LMNA
31	emery-dreifuss muscular dystrophy 7, autosomal dominant	9.8	TMEM43 LMNA
32	myofibrillar myopathy	9.8	TTN LMNA LDB3
33	long qt syndrome 1	9.8	RYR2 PKP2 DSP
34	charcot-marie-tooth disease, axonal, type 2b1	9.8	TMEM43 LMNA
35	naxos disease	9.8	PKP2 JUP DSP DSC2
36	cardiomyopathy, dilated, 1dd	9.7	TTN RYR2 LDB3
37	atrial fibrillation	9.7	TTN RYR2 LMNA
38	atrioventricular block	9.7	TTN RYR2 LMNA
39	cardiomyopathy, dilated, 1a	9.7	TMEM43 LMNA
40	restrictive cardiomyopathy	9.6	TTN LMNA DSP DSG2
41	congenital structural myopathy	9.6	TTN RYR2
42	palmoplantar keratosis	9.5	PKP2 JUP DSP DSG2 DSC2
43	muscular dystrophy, congenital, lmna-related	9.4	TTN TMEM43 LMNA
44	muscular disease	9.4	TTN RYR2 LMNA LDB3
45	emery-dreifuss muscular dystrophy 2, autosomal dominant	9.3	TMEM43 LMNA
46	arrhythmogenic right ventricular dysplasia, familial, 13	9.2	TGFB3 RYR2 PKP2 DSP CTNNA3
47	familial atrial fibrillation	9.1	TTN RYR2 PKP2 LMNA DSG2
48	arrhythmogenic right ventricular dysplasia, familial, 3	9.0	TGFB3 RYR2 PKP2 DSP DSG2 DSC2
49	leopard syndrome	8.9	TMEM43 PKP2 JUP DSP DSG2 DSC2
50	rare cardiomyopathy	8.9	TTN RYR2 PKP2 LMNA DSP DSG2

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

Sources

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

Sources

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

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

Sources

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

Sources

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

Sources

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

Sources

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

Sources

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

Sources

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

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

Sources

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	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 (ARVC) ³⁶ 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 ⁶⁰	11	RYR2 LMNA JUP DSP
8	Cell adhesion_Endothelial cell contacts by junctional mechanisms ²²	10.94	JUP DSP CTNNA3

Sources

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	9.73	PKP2 LMNA JUP DSP
3	cell-cell junction	GO:0005911	9.72	PKP2 JUP DSP DSG2 DSC2
4	Z disc	GO:0030018	9.71	TTN RYR2 LDB3 JUP
5	cell-cell adherens junction	GO:0005913	9.67	PKP2 LDB3 JUP DSC2
6	adherens junction	GO:0005912	9.63	PKP2 JUP CTNNA3
7	intercalated disc	GO:0014704	9.55	PKP2 JUP DSP DSG2 DSC2
8	fascia adherens	GO:0005916	9.43	JUP DSP CTNNA3
9	cornified envelope	GO:0001533	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 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell adhesion	GO:0007155	9.85	PKP2 JUP DSG2 DSC2 CTNNA3
2	keratinization	GO:0031424	9.77	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	response to progesterone	GO:0032570	9.55	TGFB3 DSG2
7	adherens junction organization	GO:0034332	9.54	JUP DSP
8	sarcomere organization	GO:0045214	9.52	TTN LDB3
9	ventricular cardiac muscle cell action potential	GO:0086005	9.51	RYR2 PKP2
10	cell communication by electrical coupling involved in cardiac conduction	GO:0086064	9.49	RYR2 PKP2
11	cardiac muscle hypertrophy	GO:0003300	9.48	TTN RYR2
12	desmosome organization	GO:0002934	9.43	DSP DSG2
13	bundle of His cell-Purkinje myocyte adhesion involved in cell communication	GO:0086073	9.43	PKP2 JUP DSP DSG2 DSC2 CTNNA3
14	desmosome assembly	GO:0002159	9.4	PKP2 JUP
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	9.43	JUP DSP DSG2
2	muscle alpha-actinin binding	GO:0051371	9.37	TTN LDB3
3	protein self-association	GO:0043621	9.33	TTN TMEM43 RYR2
4	alpha-catenin binding	GO:0045294	9.32	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

Sources

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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia