MCID: FML214
MIFTS: 23

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

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

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Sources:
52Orphanet, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form:

Name: Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 52
 
Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Biventricular Form 52

Classifications:



External Ids:

Orphanet52 ORPHA293899
ICD10 via Orphanet29 I42.8

Summaries for Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

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MalaCards based summary: Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form, also known as familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form, is related to myelodysplastic myeloproliferative cancer and ventricular tachycardia, catecholaminergic polymorphic, 1. An important gene associated with Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form is PKP2 (Plakophilin 2), and among its related pathways are Cell adhesion_Cadherin-mediated cell adhesion and Cell adhesion_Endothelial cell contacts by non-junctional mechanisms. Related mouse phenotypes are muscle and cardiovascular system.

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

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

(show all 31)
idRelated DiseaseScoreTop Affiliating Genes
1myelodysplastic myeloproliferative cancer10.4RYR2, TTN
2ventricular tachycardia, catecholaminergic polymorphic, 110.4DSG2, RYR2
3myopathy, spheroid body10.4LDB3, TTN
4cornelia de lange syndrome10.3LDB3, TTN
5emery-dreifuss muscular dystrophy 2, ad10.2LMNA, TMEM43
6pyelonephritis10.2PKP2, RYR2, TGFB3
7autoimmune thyroid disease 210.2LDB3, TTN
8chicken egg allergy10.1LDB3, LMNA, RYR2
9auriculocondylar syndrome 310.1DSP, PKP2
10longitudinal vaginal septum10.0DSG2, LDB3, TTN
11ulceroglandular tularemia10.0LMNA, RYR2, TTN
12cerebral cavernous malformation, familial9.8DSG2, RYR2
13dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis9.8DSP, JUP
14growth hormone deficiency9.8DSP, JUP
15cirrhotic cardiomyopathy9.8DSC2, DSG2, DSP
16arrhythmogenic right ventricular dysplasia 89.8DSP, JUP
17peripheral t-cell lymphoma9.6DSP, JUP
18atrial standstill, digenic9.5DSC2, DSG2, DSP, LMNA
19codas syndrome9.5DSC2, DSP, JUP
20ectodermal dysplasia/skin fragility syndrome9.5DSC2, DSP, JUP
21lipoma9.5DSC2, DSP, JUP
22sed, maroteaux type9.4DSC2, DSP, JUP
23histiocytosis9.4DSP, JUP
24ectodermal dysplasia9.4DSP, LDB3, LMNA, RYR2, TTN
25klippel-feil syndrome 29.2DSC2, DSP, JUP, PKP2
26autoimmune disease of skin and connective tissue7.4DSC2, DSG2, DSP, JUP, LMNA, PKP2
27usher syndrome6.5CTNNA3, DSC2, DSG2, DSP, JUP, LMNA
28cardiovascular disease risk factor )6.1CTNNA3, DSC2, DSG2, DSP, JUP, LDB3
29frontotemporal dementia, right temporal atrophy variant6.1CTNNA3, DSC2, DSG2, DSP, JUP, LDB3
30fixed pigmented erythema6.1CTNNA3, DSC2, DSG2, DSP, JUP, LDB3
31ketamine-induced biliary dilatation6.1CTNNA3, DSC2, DSG2, DSP, JUP, LDB3

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



Diseases related to familial isolated arrhythmogenic ventricular dysplasia, biventricular form

Symptoms for Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

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

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form

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

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

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Animal Models for Familial Isolated Arrhythmogenic Ventricular Dysplasia,... or affiliated genes

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

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.0CTNNA3, DSP, JUP, LDB3, LMNA, PKP2
2MP:00053856.6CTNNA3, DSP, JUP, LDB3, LMNA, PKP2
3MP:00107685.9CTNNA3, DSG2, DSP, JUP, LDB3, LMNA

Publications for Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

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Variations for Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

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Expression for genes affiliated with Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

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

Pathways for genes affiliated with Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

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GO Terms for genes affiliated with Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

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

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00058829.2DSP, JUP, PKP2
2Z discGO:00300188.9JUP, LDB3, RYR2, TTN
3fascia adherensGO:00059168.8CTNNA3, DSP, JUP
4extracellular matrixGO:00310128.7DSP, JUP, LMNA, TGFB3
5cell-cell junctionGO:00059118.4DSG2, DSP, JUP, PKP2
6intercalated discGO:00147048.0DSC2, DSG2, DSP, JUP, PKP2
7desmosomeGO:00300577.7DSC2, DSG2, DSP, JUP, PKP2

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1cell communication by electrical coupling involved in cardiac conductionGO:008606410.4PKP2, RYR2
2ventricular cardiac muscle cell action potentialGO:008600510.4PKP2, RYR2
3cardiac muscle hypertrophyGO:000330010.3RYR2, TTN
4sarcomere organizationGO:004521410.2LDB3, TTN
5cardiac muscle contractionGO:006004810.1RYR2, TTN
6desmosome assemblyGO:000215910.0JUP, PKP2
7establishment of protein localization to plasma membraneGO:00900029.8JUP, PKP2
8response to progesteroneGO:00325709.8DSG2, TGFB3
9desmosome organizationGO:00029349.6DSG2, DSP
10adherens junction organizationGO:00343329.4DSP, JUP
11single organismal cell-cell adhesionGO:00163378.5CTNNA3, DSP, JUP, PKP2
12regulation of heart rate by cardiac conductionGO:00860917.4CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
13bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:00860737.3CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
14regulation of ventricular cardiac muscle cell action potentialGO:00989116.8CTNNA3, DSC2, DSG2, DSP, JUP, PKP2

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1muscle alpha-actinin bindingGO:005137110.3LDB3, TTN
2alpha-catenin bindingGO:00452949.6JUP, PKP2
3protein self-associationGO:00436219.6RYR2, TMEM43, TTN
4protein kinase C bindingGO:00050809.5DSP, LDB3, PKP2
5cadherin bindingGO:00452969.1CTNNA3, JUP
6structural molecule activityGO:00051988.8DSP, JUP, LMNA
7cell adhesion molecule bindingGO:00508398.4DSG2, DSP, JUP
8cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communicationGO:00860837.4CTNNA3, DSC2, DSG2, DSP, JUP, PKP2

Sources for Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet