MCID: FML213
MIFTS: 24

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

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

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Sources:
31ICD10 via Orphanet, 54Orphanet
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Aliases & Descriptions for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form:

Name: Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 54
Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Right Dominant Form 54
 
Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Classic Form 54
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Classic Form 54

Classifications:



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Orphanet54 ORPHA293910
ICD10 via Orphanet31 I42.8

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

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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 myelodysplastic myeloproliferative cancer and emery-dreifuss muscular dystrophy 2, ad. An important gene associated with Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form is RYR2 (Ryanodine Receptor 2), and among its related pathways are Cell adhesion_Endothelial cell contacts by non-junctional mechanisms and Cell adhesion_Cadherin-mediated cell adhesion. Related mouse phenotypes are cardiovascular system and muscle.

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

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Diseases related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
idRelated DiseaseScoreTop Affiliating Genes
1myelodysplastic myeloproliferative cancer10.3RYR2, TTN
2emery-dreifuss muscular dystrophy 2, ad10.3LMNA, TMEM43
3ventricular tachycardia, catecholaminergic polymorphic, 110.3DSG2, RYR2
4myopathy, spheroid body10.2LDB3, TTN
5pyelonephritis10.1PKP2, RYR2, TGFB3
6autoimmune thyroid disease 210.1LDB3, TTN
7chicken egg allergy10.0LDB3, LMNA, RYR2
8auriculocondylar syndrome 39.9DSP, PKP2
9ulceroglandular tularemia9.9LMNA, RYR2, TTN
10longitudinal vaginal septum9.9DSG2, LDB3, TTN
11cerebral cavernous malformation, familial9.8DSG2, RYR2
12dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis9.7DSP, JUP
13growth hormone deficiency9.7DSP, JUP
14arrhythmogenic right ventricular dysplasia 89.7DSP, JUP
15cirrhotic cardiomyopathy9.6DSC2, DSG2, DSP
16peripheral t-cell lymphoma9.6DSP, JUP
17histiocytosis9.4DSP, JUP
18codas syndrome9.4DSC2, DSP, JUP
19ectodermal dysplasia/skin fragility syndrome9.4DSC2, DSP, JUP
20lipoma9.4DSC2, DSP, JUP
21sed, maroteaux type9.3DSC2, DSP, JUP
22atrial standstill, digenic9.3DSC2, DSG2, DSP, LMNA
23ectodermal dysplasia9.3DSP, LDB3, LMNA, RYR2, TTN
24klippel-feil syndrome 29.1DSC2, DSP, JUP, PKP2
25autoimmune disease of skin and connective tissue7.6DSC2, DSG2, DSP, JUP, LMNA, PKP2
26usher syndrome6.8CTNNA3, DSC2, DSG2, DSP, JUP, LMNA
27cardiovascular disease risk factor )6.5CTNNA3, DSC2, DSG2, DSP, JUP, LDB3
28frontotemporal dementia, right temporal atrophy variant6.5CTNNA3, DSC2, DSG2, DSP, JUP, LDB3
29fixed pigmented erythema6.5CTNNA3, DSC2, DSG2, DSP, JUP, LDB3
30ketamine-induced biliary dilatation6.5CTNNA3, DSC2, DSG2, DSP, JUP, LDB3

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 & Phenotypes for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right...

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MGI Mouse Phenotypes related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.3CTNNA3, DSP, JUP, LDB3, LMNA, PKP2
2MP:00053696.8CTNNA3, DSP, JUP, LDB3, LMNA, PKP2
3MP:00107686.7CTNNA3, DSG2, DSP, JUP, LDB3, LMNA

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

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Interventional clinical trials:

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

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

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

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

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

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

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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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00058829.3DSP, JUP, PKP2
2fascia adherensGO:00059169.1CTNNA3, DSP, JUP
3extracellular matrixGO:00310129.0DSP, JUP, LMNA, TGFB3
4cell-cell junctionGO:00059118.9DSG2, DSP, JUP, PKP2
5Z discGO:00300188.6JUP, LDB3, RYR2, TTN
6desmosomeGO:00300578.4DSC2, DSG2, DSP, JUP, PKP2
7intercalated discGO:00147048.4DSC2, DSG2, DSP, JUP, PKP2

Biological processes related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1cell communication by electrical coupling involved in cardiac conductionGO:008606410.5PKP2, RYR2
2cardiac muscle contractionGO:006004810.5RYR2, TTN
3cardiac muscle hypertrophyGO:000330010.5RYR2, TTN
4sarcomere organizationGO:004521410.3LDB3, TTN
5response to progesteroneGO:003257010.2DSG2, TGFB3
6desmosome assemblyGO:000215910.0JUP, PKP2
7establishment of protein localization to plasma membraneGO:009000210.0JUP, PKP2
8desmosome organizationGO:00029349.9DSG2, DSP
9ventricular cardiac muscle cell action potentialGO:00860059.9PKP2, RYR2
10adherens junction organizationGO:00343329.7DSP, JUP
11single organismal cell-cell adhesionGO:00163378.5CTNNA3, DSP, JUP, PKP2
12bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:00860737.9CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
13regulation of heart rate by cardiac conductionGO:00860917.8CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
14regulation of ventricular cardiac muscle cell action potentialGO:00989117.6CTNNA3, DSC2, DSG2, DSP, JUP, PKP2

Molecular functions related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1muscle alpha-actinin bindingGO:005137110.3LDB3, TTN
2protein self-associationGO:004362110.1RYR2, TMEM43, TTN
3alpha-catenin bindingGO:004529410.0JUP, PKP2
4protein kinase C bindingGO:00050809.8DSP, LDB3, PKP2
5cadherin bindingGO:00452969.8CTNNA3, JUP
6cell adhesion molecule bindingGO:00508399.1DSG2, DSP, JUP
7structural molecule activityGO:00051988.7DSP, JUP, LMNA
8cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communicationGO:00860837.9CTNNA3, DSC2, DSG2, DSP, JUP, PKP2

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet