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:
30ICD10 via Orphanet, 53Orphanet
See all MalaCards sources

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

Name: Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 53
 
Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Biventricular Form 53

Classifications:



External Ids:

Orphanet53 ORPHA293899
ICD10 via Orphanet30 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 emery-dreifuss muscular dystrophy 2, ad. An important gene associated with Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form is RYR2 (Ryanodine Receptor 2), and among its related pathways are Cell adhesion_Endothelial cell contacts by non-junctional mechanisms and Cell adhesion_Cadherin-mediated cell adhesion. Related mouse phenotypes are cardiovascular system and muscle.

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 30)
idRelated DiseaseScoreTop Affiliating Genes
1myelodysplastic myeloproliferative cancer10.3RYR2, TTN
2emery-dreifuss muscular dystrophy 2, ad10.3LMNA, TMEM43
3ventricular tachycardia, catecholaminergic polymorphic, 110.3DSG2, RYR2
4myopathy, spheroid body10.2LDB3, TTN
5pyelonephritis10.1PKP2, RYR2, TGFB3
6autoimmune thyroid disease 210.1LDB3, TTN
7chicken egg allergy10.0LDB3, LMNA, RYR2
8auriculocondylar syndrome 39.9DSP, PKP2
9ulceroglandular tularemia9.9LMNA, RYR2, TTN
10longitudinal vaginal septum9.9DSG2, LDB3, TTN
11cerebral cavernous malformation, familial9.8DSG2, RYR2
12dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis9.7DSP, JUP
13growth hormone deficiency9.7DSP, JUP
14arrhythmogenic right ventricular dysplasia 89.7DSP, JUP
15cirrhotic cardiomyopathy9.6DSC2, DSG2, DSP
16peripheral t-cell lymphoma9.6DSP, JUP
17histiocytosis9.4DSP, JUP
18codas syndrome9.4DSC2, DSP, JUP
19ectodermal dysplasia/skin fragility syndrome9.4DSC2, DSP, JUP
20lipoma9.4DSC2, DSP, JUP
21sed, maroteaux type9.3DSC2, DSP, JUP
22atrial standstill, digenic9.3DSC2, DSG2, DSP, LMNA
23ectodermal dysplasia9.3DSP, LDB3, LMNA, RYR2, TTN
24klippel-feil syndrome 29.1DSC2, DSP, JUP, PKP2
25autoimmune disease of skin and connective tissue7.6DSC2, DSG2, DSP, JUP, LMNA, PKP2
26usher syndrome6.8CTNNA3, DSC2, DSG2, DSP, JUP, LMNA
27cardiovascular disease risk factor )6.5CTNNA3, DSC2, DSG2, DSP, JUP, LDB3
28frontotemporal dementia, right temporal atrophy variant6.5CTNNA3, DSC2, DSG2, DSP, JUP, LDB3
29fixed pigmented erythema6.5CTNNA3, DSC2, DSG2, DSP, JUP, LDB3
30ketamine-induced biliary dilatation6.5CTNNA3, 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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.3CTNNA3, DSP, JUP, LDB3, LMNA, PKP2
2MP:00053696.8CTNNA3, DSP, JUP, LDB3, LMNA, PKP2
3MP:00107686.7CTNNA3, 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:00058829.0DSP, JUP, PKP2
2fascia adherensGO:00059168.7CTNNA3, DSP, JUP
3Z discGO:00300188.6JUP, LDB3, RYR2, TTN
4extracellular matrixGO:00310128.5DSP, JUP, LMNA, TGFB3
5cell-cell junctionGO:00059118.4DSG2, DSP, JUP, PKP2
6desmosomeGO:00300577.8DSC2, DSG2, DSP, JUP, PKP2
7intercalated discGO:00147047.5DSC2, 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:000330010.2RYR2, TTN
4sarcomere organizationGO:004521410.1LDB3, TTN
5response to progesteroneGO:003257010.1DSG2, TGFB3
6desmosome assemblyGO:000215910.0JUP, PKP2
7desmosome organizationGO:00029349.9DSG2, DSP
8cardiac muscle contractionGO:00600489.9RYR2, TTN
9establishment of protein localization to plasma membraneGO:00900029.8JUP, PKP2
10adherens junction organizationGO:00343329.2DSP, JUP
11single organismal cell-cell adhesionGO:00163378.3CTNNA3, DSP, JUP, PKP2
12regulation of heart rate by cardiac conductionGO:00860917.2CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
13bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:00860737.1CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
14regulation of ventricular cardiac muscle cell action potentialGO:00989116.7CTNNA3, 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:00452949.4JUP, PKP2
3protein kinase C bindingGO:00050809.3DSP, LDB3, PKP2
4protein self-associationGO:00436219.2RYR2, TMEM43, TTN
5cadherin bindingGO:00452969.2CTNNA3, JUP
6cell adhesion molecule bindingGO:00508398.8DSG2, DSP, JUP
7structural molecule activityGO:00051988.6DSP, JUP, LMNA
8cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communicationGO:00860837.2CTNNA3, DSC2, DSG2, DSP, JUP, PKP2

Sources for Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet