MCID: FML214
MIFTS: 27

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form malady

Cardiovascular diseases, Genetic diseases categories

Summaries for Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

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MalaCards: Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form, also known as familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form, is related to hypertrophic cardiomyopathy and keratoderma. An important gene associated with Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form is TGFB3 (transforming growth factor, beta 3), and among its related pathways are DREAM Repression and Dynorphin Expression and Apoptotic cleavage of cell adhesion proteins. The compounds ryanodine and calcium have been mentioned in the context of this disorder. Related mouse phenotypes are embryogenesis and muscle.

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

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48Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases
Anatomical: Cardiovascular diseases


Aliases & Descriptions:

familial isolated arrhythmogenic ventricular dysplasia, biventricular form 48
familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form 48


External Ids:

ICD10 via Orphanet26 I42.8

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

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17GeneCards, 18GeneDecks
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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

Clinical Features for Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

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

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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36MGI
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MGI Mouse Phenotypes related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.4TGFB3, TTN, RYR2, DSP, JUP
2MP:00053697.2JUP, CTNNA3, PKP2, RYR2, TTN, LMNA
3MP:00053857.1JUP, CTNNA3, PKP2, RYR2, TTN, LMNA
4MP:00107686.3TGFB3, JUP, CTNNA3, PKP2, DSP, DSG2

Publications for Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

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Genetic 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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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form

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

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51QIAGEN, 53Reactome, 12EMD Millipore, 49PharmGKB, 29KEGG, 37NCBI BioSystems Database
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Compounds for genes affiliated with Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

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44Novoseek, 28IUPHAR, 59Tocris Bioscience, 49PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ryanodine44 28 5910.4TTN, RYR2, DSP, JUP
2calcium44 49 11 2410.5DSP, DSC2, DSG2, RYR2, TTN, LMNA

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

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16Gene Ontology
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Cellular components related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Z discGO:0300189.3JUP, RYR2, TTN
2cell-cell adherens junctionGO:0059139.2JUP, DSC2
3fascia adherensGO:0059169.0CTNNA3, JUP
4cell-cell junctionGO:0059118.9DSG2, PKP2, JUP
5intercalated discGO:0147048.9DSP, PKP2, JUP
6intermediate filamentGO:0058828.6JUP, PKP2, DSP, LMNA
7desmosomeGO:0300578.1DSG2, DSC2, DSP, PKP2, JUP
8plasma membraneGO:0058867.3TGFB3, RYR2, DSG2, DSC2, DSP, PKP2

Biological processes related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cardiac muscle hypertrophyGO:0033009.8RYR2, TTN
2cardiac muscle contractionGO:0600489.8TTN, RYR2
3desmosome assemblyGO:0021599.4PKP2, JUP
4cell communication by electrical coupling involved in cardiac conductionGO:0860649.4RYR2, PKP2
5cellular component disassembly involved in execution phase of apoptosisGO:0069219.3LMNA, DSG2, DSP
6adherens junction organizationGO:0343329.1DSP, JUP
7bundle of His cell to Purkinje myocyte communicationGO:0860698.1JUP, PKP2, DSP, DSC2, DSG2
8cell-cell adhesionGO:0163378.1JUP, CTNNA3, PKP2, DSP
9regulation of heart rate by cardiac conductionGO:0860918.1DSG2, DSC2, DSP, PKP2, JUP
10regulation of ventricular cardiac muscle cell action potentialGO:0860057.8RYR2, DSG2, DSC2, DSP, PKP2, JUP

Molecular functions related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein self-associationGO:0436219.5TTN, RYR2
2protein kinase C bindingGO:0050809.3DSP, PKP2
3cadherin bindingGO:0452969.1CTNNA3, JUP
4calcium ion bindingGO:0055098.8DSC2, DSG2, RYR2, TTN
5structural molecule activityGO:0051988.4LMNA, DSP, CTNNA3, JUP
6protein bindingGO:0055156.4JUP, CTNNA3, PKP2, DSP, RYR2, TTN

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

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Sources for Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet