MCID: FML215
MIFTS: 18

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form malady

Cardiovascular, Genetic categories

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

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MalaCards: Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form, also known as familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form, is related to hypertrophic cardiomyopathy and keratoderma. An important gene associated with Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant 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, Left...

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49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

familial isolated arrhythmogenic ventricular dysplasia, left dominant form 49
familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form 49


External Ids:

ICD10 via Orphanet26 I42.8

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

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form:



Diseases related to familial isolated arrhythmogenic ventricular dysplasia, left dominant form

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

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

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5CenterWatch, 42NIH 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, Left...

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

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

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37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053807.9JUP, DSP, RYR2, TTN, TGFB3
2MP:00053697.9JUP, PKP2, RYR2, TTN, LMNA
3MP:00053847.9TGFB3, LMNA, TTN, DSG2, DSP, JUP
4MP:00053857.7JUP, PKP2, RYR2, TTN, LMNA, TGFB3
5MP:00107686.7TGFB3, JUP, PKP2, DSP, DSG2, RYR2

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

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

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

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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, Left Dominant Form

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

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

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52QIAGEN, 54Reactome, 12EMD Millipore, 50PharmGKB, 30KEGG, 38NCBI BioSystems Database
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Compounds for genes affiliated with Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left...

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45Novoseek, 29IUPHAR, 60Tocris Bioscience, 50PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ryanodine45 29 6010.2TTN, RYR2, DSP, JUP
2calcium45 50 11 2410.2DSP, DSC2, DSG2, RYR2, TTN, LMNA

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

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

idNameGO IDScoreTop Affiliating Genes
1cell-cell adherens junctionGO:0059139.4DSC2, JUP
2Z discGO:0300189.2JUP, RYR2, TTN
3intercalated discGO:0147048.6DSP, PKP2, JUP
4cell-cell junctionGO:0059118.6DSG2, PKP2, JUP
5intermediate filamentGO:0058828.3JUP, PKP2, DSP, LMNA
6desmosomeGO:0300577.7DSG2, DSC2, DSP, PKP2, JUP
7plasma membraneGO:0058866.5JUP, PKP2, DSP, DSC2, DSG2, RYR2

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cardiac muscle hypertrophyGO:0033009.8TTN, RYR2
2cardiac muscle contractionGO:0600489.7TTN, RYR2
3desmosome assemblyGO:0021599.3JUP, PKP2
4cell communication by electrical coupling involved in cardiac conductionGO:0860649.2PKP2, RYR2
5cellular component disassembly involved in execution phase of apoptosisGO:0069219.2LMNA, DSG2, DSP
6adherens junction organizationGO:0343329.0DSP, JUP
7cell-cell adhesionGO:0163378.4DSP, PKP2, JUP
8bundle of His cell to Purkinje myocyte communicationGO:0860697.7JUP, PKP2, DSP, DSC2, DSG2
9regulation of heart rate by cardiac conductionGO:0860917.7DSG2, DSC2, DSP, PKP2, JUP
10regulation of ventricular cardiac muscle cell action potentialGO:0860057.3RYR2, DSG2, DSC2, DSP, PKP2, JUP

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

idNameGO IDScoreTop Affiliating Genes
1protein self-associationGO:0436219.4TTN, RYR2
2structural molecule activityGO:0051989.1LMNA, DSP, JUP
3protein kinase C bindingGO:0050809.0DSP, PKP2
4calcium ion bindingGO:0055098.7DSC2, DSG2, RYR2, TTN
5protein bindingGO:0055156.7JUP, PKP2, DSP, RYR2, TTN, LMNA

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

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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet