MCID: FML213
MIFTS: 24

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories

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

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51Orphanet, 28ICD10 via Orphanet
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Aliases & Descriptions for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form:

Name: Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 51
Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Right Dominant Form 51
 
Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Classic Form 51
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Classic Form 51


Classifications:



External Ids:

Orphanet51 293910
ICD10 via Orphanet28 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 myasthenia gravis and emery-dreifuss muscular dystrophy 2, ad. An important gene associated with Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form is PKP2 (Plakophilin 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 muscle and cardiovascular system.

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 32)
idRelated DiseaseScoreTop Affiliating Genes
1myasthenia gravis10.2RYR2, TTN
2emery-dreifuss muscular dystrophy 2, ad10.1LMNA, TMEM43
3familial dupuytren contracture10.1LDB3, LMNA, TTN
4left-sided gallbladder10.1LDB3, LMNA, RYR2
5ventricular tachycardia, catecholaminergic polymorphic, 110.1DSG2, LMNA, RYR2
6capillary lymphangioma10.0DSC2, DSG2
7cartilage disease10.0LMNA, TTN
8branchiooculofacial syndrome10.0DSP, PKP2
9caveolinopathies10.0DSG2, LMNA, RYR2
10hidradenoma10.0DSC2, DSG2
11septate vagina10.0DSG2, LDB3, TTN
12fat necrosis of breast10.0LMNA, RYR2, TTN
13ichthyosis - hypotrichosis - sclerosing cholangitis9.9DSC2, DSG2, DSP
14epidermolysis bullosa, lethal acantholytic9.9DSP, JUP
15cardiomyopathy, dilated, with woolly hair and keratoderma9.9DSP, JUP
16lissencephaly9.9JUP, PKP2, RYR2
17muscular dystrophy9.8DSG2, LMNA, PKP2, RYR2, TTN
18hypercholesterolemia, familial9.8DSC2, DSP, JUP
19ectodermal dysplasia/skin fragility syndrome9.8DSC2, DSP, JUP
20hay-wells syndrome9.8DSC2, DSP, JUP
21peri-anal fistula9.8DSG2, DSP, JUP
22drug-induced hepatitis9.7DSP, LDB3, LMNA, RYR2, TTN
23alcoholic psychosis9.7DSG2, DSP, JUP
24congenital hemolytic anemia9.7DSG2, DSP, LMNA, RYR2, TTN
25neuropathy, distal hereditary motor, type iia9.7DSP, JUP
26arrhythmogenic right ventricular dysplasia 129.7DSC2, DSP, JUP, PKP2
27invasive bladder transitional cell carcinoma8.9DSC2, DSG2, DSP, JUP, LMNA, PKP2
28familial partial lipodystrophy8.8CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
29cardiomyopathy with or without skeletal myopathy8.4CTNNA3, DSC2, DSG2, DSP, JUP, LDB3
30familial isolated arrhythmogenic ventricular dysplasia, left dominant form8.4CTNNA3, DSC2, DSG2, DSP, JUP, LDB3
31right temporal lobar atrophy8.4CTNNA3, DSC2, DSG2, DSP, JUP, LDB3
32mitf-related melanoma and renal cell carcinoma predisposition syndrome8.4CTNNA3, 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 for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right...

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

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Interventional 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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.3CTNNA3, JUP, LDB3, LMNA, PKP2, RYR2
2MP:00053856.8CTNNA3, JUP, LDB3, LMNA, PKP2, RYR2
3MP:00107686.2CTNNA3, DSG2, DSP, JUP, LDB3, LMNA

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
1sarcomereGO:003001710.3RYR2, TTN
2adherens junctionGO:00059129.9CTNNA3, PKP2
3fascia adherensGO:00059169.7CTNNA3, DSP
4intermediate filamentGO:00058828.9DSP, JUP, LMNA, PKP2
5Z discGO:00300188.7JUP, LDB3, RYR2, TTN
6cell-cell junctionGO:00059118.6DSG2, DSP, JUP, PKP2
7intercalated discGO:00147048.3DSC2, DSG2, DSP, JUP, PKP2
8desmosomeGO:00300578.1DSC2, DSG2, DSP, JUP, PKP2
9cytoskeletonGO:00058567.8CTNNA3, DSP, JUP, LDB3

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1ventricular cardiac muscle cell action potentialGO:008600510.5PKP2, RYR2
2cell communication by electrical coupling involved in cardiac conductionGO:008606410.5PKP2, RYR2
3cardiac muscle hypertrophyGO:000330010.4RYR2, TTN
4response to progesteroneGO:003257010.2DSG2, TGFB3
5sarcomere organizationGO:004521410.2LDB3, TTN
6desmosome organizationGO:000293410.1DSG2, DSP
7desmosome assemblyGO:000215910.0JUP, PKP2
8cardiac muscle contractionGO:00600489.9RYR2, TTN
9establishment of protein localization to plasma membraneGO:00900029.8JUP, PKP2
10adherens junction organizationGO:00343329.5DSP, JUP
11cellular component disassembly involved in execution phase of apoptosisGO:00069219.4DSG2, DSP, LMNA
12programmed cell deathGO:00125019.4DSG2, DSP, LMNA
13single organismal cell-cell adhesionGO:00163378.4CTNNA3, DSP, JUP, PKP2
14bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:00860738.0CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
15regulation of heart rate by cardiac conductionGO:00860917.9CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
16cell adhesionGO:00071557.9CTNNA3, DSC2, DSG2, JUP
17regulation of ventricular cardiac muscle cell action potentialGO:00989117.7CTNNA3, 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:005137110.2LDB3, TTN
2alpha-catenin bindingGO:00452949.7JUP, PKP2
3protein self-associationGO:00436219.5RYR2, TMEM43, TTN
4cadherin bindingGO:00452969.1CTNNA3, JUP
5protein kinase C bindingGO:00050809.0DSP, LDB3, PKP2
6cell adhesion molecule bindingGO:00508399.0DSG2, DSP, JUP
7structural molecule activityGO:00051988.8DSP, 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet