MCID: FML214
MIFTS: 26

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

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

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Sources:
51Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form:

Name: Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 51
 
Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Biventricular Form 51

Classifications:



External Ids:

Orphanet51 293899
ICD10 via Orphanet28 I42.8

Summaries for Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

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MalaCards based summary: Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form, also known as familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form, is related to myasthenia gravis and ventricular tachycardia, catecholaminergic polymorphic, 2. An important gene associated with Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular 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. Affiliated tissues include spinal cord and thyroid, and related mouse phenotypes are muscle and cardiovascular system.

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

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

(show all 32)
idRelated DiseaseScoreTop Affiliating Genes
1myasthenia gravis10.4RYR2, TTN
2ventricular tachycardia, catecholaminergic polymorphic, 210.4DSG2, RYR2
3ventricular tachycardia, catecholaminergic polymorphic, 110.4DSG2, RYR2
4long qt syndrome 1410.4DSG2, RYR2
5autoimmune thyroid disease 210.3LDB3, TTN
6cartilage disease10.3LMNA, TTN
7emery-dreifuss muscular dystrophy 2, ad10.2LMNA, TMEM43
8spinal canal and spinal cord meningioma10.2PKP2, RYR2, TGFB3
9myopathy with deficiency of iscu10.2LDB3, TTN
10spoan syndrome10.1LDB3, LMNA, RYR2
11auriculocondylar syndrome 310.1DSP, PKP2
12myopathy, spheroid body10.1LDB3, TTN
13conjunctival concretion10.1LMNA, RYR2, TTN
14transverse vaginal septum10.0DSG2, LDB3, TTN
15dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis9.8DSP, JUP
16caveolinopathies9.8DSG2, RYR2
17arrhythmogenic right ventricular dysplasia 89.8DSP, JUP
18ichthyosis-hypotrichosis-sclerosing cholangitis syndrome9.8DSC2, DSG2, DSP
19inappropriate adh syndrome9.6DSP, JUP
20hypercholesterolemia, familial9.5DSC2, DSP, JUP
21hay-wells syndrome9.5DSC2, DSP, JUP
22neuropathy, distal hereditary motor, type iia9.5DSC2, DSP, JUP
23peri-anal fistula9.4DSG2, DSP, JUP
24drug-induced hepatitis9.4DSP, LDB3, LMNA, RYR2, TTN
25vestibule of mouth cancer9.4DSG2, DSP, JUP
26arrhythmogenic right ventricular dysplasia 129.2DSC2, DSP, JUP, PKP2
27specific developmental disorder7.4DSC2, DSG2, DSP, JUP, LMNA, PKP2
28asperger syndrome6.8CTNNA3, DSC2, DSG2, DSP, JUP, LMNA
29cardiomyopathy with or without skeletal myopathy6.2CTNNA3, DSC2, DSG2, DSP, JUP, LDB3
30familial isolated arrhythmogenic ventricular dysplasia, left dominant form6.2CTNNA3, DSC2, DSG2, DSP, JUP, LDB3
31frontotemporal dementia, right temporal atrophy variant6.2CTNNA3, DSC2, DSG2, DSP, JUP, LDB3
32mitf-related melanoma and renal cell carcinoma predisposition syndrome6.2CTNNA3, DSC2, DSG2, DSP, JUP, LDB3

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



Diseases related to familial isolated arrhythmogenic ventricular dysplasia, biventricular form

Symptoms for Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

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

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Interventional clinical trials:

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

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

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

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MalaCards organs/tissues related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form:

33
Spinal cord, Thyroid

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

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053696.8CTNNA3, DSP, JUP, LDB3, LMNA, PKP2
2MP:00053856.6CTNNA3, DSP, JUP, LDB3, LMNA, PKP2
3MP:00107685.9CTNNA3, DSG2, DSP, JUP, LDB3, LMNA

Publications for Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

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Variations for Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

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

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

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

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

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Cellular components related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intercalated discGO:00147049.1DSC2, DSG2, JUP
2plasma membraneGO:00058867.7DSC2, DSG2, DSP, JUP, PKP2, TGFB3

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1ventricular cardiac muscle cell action potentialGO:008600510.4PKP2, RYR2
2cardiac muscle contractionGO:006004810.1RYR2, TTN
3response to progesteroneGO:003257010.0DSG2, TGFB3
4bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:008607310.0DSC2, DSG2
5regulation of heart rate by cardiac conductionGO:00860919.7DSG2, DSP
6programmed cell deathGO:00125019.4DSG2, DSP, LMNA
7regulation of ventricular cardiac muscle cell action potentialGO:00989119.3DSP, JUP, RYR2
8adherens junction organizationGO:00343328.8DSP, JUP
9single organismal cell-cell adhesionGO:00163378.2CTNNA3, DSP, JUP, PKP2

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

idNameGO IDScoreTop Affiliating Genes
1protein self-associationGO:00436219.6TMEM43, TTN

Sources for Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

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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