MCID: FML213
MIFTS: 30

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories
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MalaCards based summary: Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form, also known as familial isolated arrhythmogenic ventricular cardiomyopathy, right 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, Right 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 muscle.

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

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

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


Classifications:

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


External Ids:

ICD10 via Orphanet26 I42.8

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

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Graphical network of the top 20 diseases related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form:



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

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

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

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Drug clinical trials:

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

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

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053807.8TTN, TGFB3, JUP, DSP, RYR2
2MP:00053697.8TTN, LMNA, JUP, PKP2, CTNNA3, RYR2
3MP:00053767.4RYR2, PKP2, JUP, LMNA, TGFB3, TTN
4MP:00053857.2TTN, TGFB3, LMNA, JUP, PKP2, CTNNA3
5MP:00053847.0TTN, TGFB3, LMNA, JUP, DSP, DSG2
6MP:00107686.5RYR2, TTN, TGFB3, LMNA, JUP, DSP

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

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

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Expression patterns in normal tissues for genes affiliated with Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form

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

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

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

idCompoundScoreTop Affiliating Genes
1retinoic acid44 249.5DSP, JUP, LMNA, TGFB3
2ryanodine44 28 6110.4RYR2, DSP, JUP, TTN
3calcium44 50 24 1110.0TTN, LMNA, JUP, DSP, DSC2, DSG2

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

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Cellular components related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant 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:0300189.0RYR2, JUP, TTN
7intermediate filamentGO:0058828.9LMNA, JUP, DSP, PKP2
8desmosomeGO:0300578.8PKP2, DSG2, DSC2, DSP, JUP
9extracellular vesicular exosomeGO:0700628.0TTN, JUP, DSP, DSC2, DSG2
10plasma membraneGO:0058867.7TGFB3, JUP, DSP, DSC2, DSG2, PKP2

Biological processes related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant 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
3adherens junction organizationGO:0343329.5DSP, JUP
4response to progesteroneGO:0325709.5DSG2, TGFB3
5cardiac muscle hypertrophyGO:0033009.5RYR2, TTN
6cell-cell junction organizationGO:0452169.4JUP, TGFB3
7cellular component disassembly involved in execution phase of apoptosisGO:0069219.4DSG2, DSP, LMNA
8cell-cell adhesionGO:0163379.2JUP, DSP, PKP2, CTNNA3
9cardiac muscle contractionGO:0600489.1RYR2, TTN
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, Right Dominant Form according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.9RYR2, PKP2
2cadherin bindingGO:0452969.7JUP, CTNNA3
3protein kinase C bindingGO:0050809.4PKP2, DSP
4protein self-associationGO:0436219.3RYR2, TTN
5structural molecule activityGO:0051988.9LMNA, JUP, DSP, CTNNA3
6calcium ion bindingGO:0055098.7RYR2, DSG2, DSC2, TTN
7protein bindingGO:0055156.0RYR2, TTN, TGFB3, TMEM43, LMNA, JUP

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

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

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet