MCID: FML215
MIFTS: 29

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories

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MalaCards based summary: Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form, also known as familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant 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, Left Dominant 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 retinoic acid and ryanodine have been mentioned in the context of this disorder. Related mouse phenotypes are embryogenesis and growth/size/body.

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

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Sources:
49Orphanet, 28ICD10 via Orphanet
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Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form, Aliases & Descriptions:

Name: Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 49
 
Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Left Dominant Form 49


Classifications:

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


External Ids:

Orphanet49 293888
ICD10 via Orphanet28 I42.8

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

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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

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

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

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Drug clinical trials:

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

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

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

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

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053807.8TTN, TGFB3, JUP, DSP, RYR2
2MP:00053787.7RYR2, LDB3, DSP, JUP, LMNA, TTN
3MP:00053697.6TTN, LMNA, JUP, LDB3, PKP2, CTNNA3
4MP:00053867.4TTN, TGFB3, TMEM43, LMNA, LDB3, RYR2
5MP:00053767.2TTN, TGFB3, LMNA, JUP, LDB3, PKP2
6MP:00053857.0TTN, TGFB3, LMNA, JUP, LDB3, PKP2
7MP:00053847.0TTN, TGFB3, LMNA, JUP, DSP, DSG2
8MP:00107686.3RYR2, TTN, TGFB3, LMNA, JUP, DSP

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

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

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

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

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

idCompoundScoreTop Affiliating Genes
1retinoic acid45 269.5DSP, JUP, LMNA, TGFB3
2ryanodine45 30 6110.4RYR2, DSP, JUP, TTN
3calcium45 51 26 1310.0TTN, LMNA, JUP, DSP, DSC2, DSG2

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

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

idNameGO IDScoreTop Affiliating Genes
1lateral plasma membraneGO:00163289.7DSG2, JUP
2cell-cell adherens junctionGO:00059139.5JUP, DSC2
3fascia adherensGO:00059169.5JUP, DSP, CTNNA3
4cell-cell junctionGO:00059119.4JUP, DSG2, PKP2
5intercalated discGO:00147049.4PKP2, DSP, JUP
6intermediate filamentGO:00058828.9LMNA, JUP, DSP, PKP2
7desmosomeGO:00300578.8PKP2, DSG2, DSC2, DSP, JUP
8Z discGO:00300188.8TTN, JUP, LDB3, RYR2
9extracellular vesicular exosomeGO:00700627.8DSG2, DSC2, DSP, JUP, TTN
10plasma membraneGO:00058867.7RYR2, PKP2, DSG2, DSC2, DSP, JUP

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1cell communication by electrical coupling involved in cardiac conductionGO:008606410.0PKP2, RYR2
2desmosome assemblyGO:00021599.9JUP, PKP2
3cardiac muscle hypertrophyGO:00033009.5RYR2, TTN
4adherens junction organizationGO:00343329.5JUP, DSP
5response to progesteroneGO:00325709.5DSG2, TGFB3
6cellular component disassembly involved in execution phase of apoptosisGO:00069219.4DSG2, DSP, LMNA
7sarcomere organizationGO:00452149.4LDB3, TTN
8cell-cell junction organizationGO:00452169.4JUP, TGFB3
9cell-cell adhesionGO:00163379.2JUP, DSP, PKP2, CTNNA3
10cardiac muscle contractionGO:00600489.1RYR2, TTN
11bundle of His cell to Purkinje myocyte communicationGO:00860698.8JUP, DSP, DSC2, DSG2, PKP2
12regulation of heart rate by cardiac conductionGO:00860918.8PKP2, DSG2, DSC2, DSP, JUP
13ventricular cardiac muscle cell action potentialGO:00860058.6RYR2, PKP2, DSG2, DSC2, DSP, JUP

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1cadherin bindingGO:00452969.6JUP, CTNNA3
2protein kinase C bindingGO:00050809.5PKP2, LDB3, DSP
3protein self-associationGO:00436219.4RYR2, TTN
4muscle alpha-actinin bindingGO:00513719.3LDB3, TTN
5structural molecule activityGO:00051988.9LMNA, JUP, DSP, CTNNA3
6calcium ion bindingGO:00055098.4RYR2, DSG2, DSC2, TTN
7protein bindingGO:00055155.7RYR2, TTN, TGFB3, TMEM43, LMNA, JUP

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4CDC
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24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
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37MGI
40NCIt
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48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet