MCID: FML215
MIFTS: 25

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories

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

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Sources:
48Orphanet, 26ICD10 via Orphanet
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Aliases & Descriptions for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form:

Name: Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 48
 
Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Left Dominant Form 48


Classifications:



External Ids:

Orphanet48 293888
ICD10 via Orphanet26 I42.8

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

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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.

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:

Search ClinicalTrials for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form

Search NIH Clinical Center for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form

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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053807.8RYR2, DSP, JUP, TGFB3, TTN
2MP:00053787.7LMNA, JUP, DSP, LDB3, RYR2, TTN
3MP:00053697.6RYR2, CTNNA3, TTN, LMNA, JUP, LDB3
4MP:00053867.4RYR2, LDB3, LMNA, TMEM43, TGFB3, TTN
5MP:00053767.2TTN, TGFB3, LMNA, LDB3, PKP2, RYR2
6MP:00053857.0CTNNA3, RYR2, LDB3, JUP, LMNA, TGFB3
7MP:00053847.0DSG2, DSP, JUP, LMNA, TGFB3, TTN
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 Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1retinoic acid44 249.5DSP, JUP, LMNA, TGFB3
2ryanodine44 28 6010.4RYR2, DSP, JUP, TTN
3calcium44 50 24 1110.0TTN, 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 Suite gene sharing:

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 Suite gene sharing:

(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 Suite gene sharing:

(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

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

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet