MCID: FML214
MIFTS: 28

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories
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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 hailey-hailey disease and cardiomyopathy dilated with woolly hair and keratoderma. An important gene associated with Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form is RYR2 (ryanodine receptor 2 (cardiac)), and among its related pathways are Cytoskeleton remodeling Keratin filaments and Cell adhesion Endothelial cell contacts by non junctional mechanisms. The compounds ryanodine and retinoic acid have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and embryogenesis.

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

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49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

familial isolated arrhythmogenic ventricular dysplasia, biventricular form 49
familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form 49


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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

Symptoms for Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

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

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42NIH Clinical Center, 6ClinicalTrials
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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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37MGI
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MGI Mouse Phenotypes related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.1TTN, LMNA, JUP, PKP2, CTNNA3, RYR2
2MP:00053807.9TTN, TGFB3, JUP, DSP, RYR2
3MP:00053767.5RYR2, PKP2, JUP, LMNA, TGFB3, TTN
4MP:00053857.3TTN, TGFB3, LMNA, JUP, PKP2, CTNNA3
5MP:00053847.1TTN, TGFB3, LMNA, JUP, DSP, DSG2
6MP:00107686.6RYR2, TTN, TGFB3, LMNA, JUP, DSP

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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2BioGPS, 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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50PathCards, 60Thomson Reuters, 55Reactome, 38NCBI BioSystems Database, 53QIAGEN, 30KEGG, 51PharmGKB
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Compounds for genes affiliated with Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

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45Novoseek, 29IUPHAR, 61Tocris Bioscience, 24HMDB, 51PharmGKB, 11DrugBank
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Compounds related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ryanodine45 29 6110.7RYR2, DSP, JUP, TTN
2retinoic acid45 249.3DSP, JUP, LMNA, TGFB3
3calcium45 51 24 1110.3TTN, LMNA, JUP, DSP, DSC2, DSG2

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
1lateral plasma membraneGO:0163289.7DSG2, JUP
2fascia adherensGO:0059169.5JUP, DSP, CTNNA3
3intercalated discGO:0147049.4PKP2, DSP, JUP
4cell-cell junctionGO:0059119.4JUP, DSG2, PKP2
5cell-cell adherens junctionGO:0059139.3DSC2, JUP
6Z discGO:0300189.3RYR2, JUP, TTN
7intermediate filamentGO:0058828.9LMNA, JUP, DSP, PKP2
8desmosomeGO:0300578.8PKP2, DSG2, DSC2, DSP, JUP
9extracellular vesicular exosomeGO:0700628.3TTN, JUP, DSP, DSC2, DSG2
10plasma membraneGO:0058867.5TGFB3, JUP, DSP, DSC2, DSG2, PKP2

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1cell communication by electrical coupling involved in cardiac conductionGO:0860649.9PKP2, RYR2
2desmosome assemblyGO:0021599.8JUP, PKP2
3cardiac muscle hypertrophyGO:0033009.8RYR2, TTN
4adherens junction organizationGO:0343329.5DSP, JUP
5cellular component disassembly involved in execution phase of apoptosisGO:0069219.4DSG2, DSP, LMNA
6cardiac muscle contractionGO:0600489.4RYR2, TTN
7response to progesteroneGO:0325709.3DSG2, TGFB3
8cell-cell junction organizationGO:0452169.2JUP, TGFB3
9cell-cell adhesionGO:0163379.2JUP, DSP, PKP2, CTNNA3
10bundle of His cell to Purkinje myocyte communicationGO:0860698.8JUP, DSP, DSC2, DSG2, PKP2
11regulation of heart rate by cardiac conductionGO:0860918.8PKP2, DSG2, DSC2, DSP, JUP
12ventricular cardiac muscle cell action potentialGO:0860058.5RYR2, PKP2, DSG2, DSC2, DSP, JUP

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.9RYR2, PKP2
2cadherin bindingGO:0452969.7JUP, CTNNA3
3protein self-associationGO:0436219.6RYR2, TTN
4protein kinase C bindingGO:0050809.4PKP2, DSP
5calcium ion bindingGO:0055099.0RYR2, DSG2, DSC2, TTN
6structural molecule activityGO:0051988.9LMNA, JUP, DSP, CTNNA3
7protein bindingGO:0055156.0RYR2, TTN, TGFB3, TMEM43, LMNA, JUP

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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet