MCID: FML213
MIFTS: 25

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:



External Ids:

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 cardiomyopathy, dilated, 1a and leukodystrophy, hypomyelinating, 2. An important gene associated with Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form is TGFB3 (Transforming Growth Factor Beta 3), and among its related pathways are Cell adhesion_Cadherin-mediated cell adhesion and Cell adhesion_Endothelial cell contacts by non-junctional mechanisms. Related mouse phenotypes are muscle and mortality/aging.

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 38)
idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, dilated, 1a10.2LMNA, TMEM43
2leukodystrophy, hypomyelinating, 210.2JUP, RYR2
3spastic paraplegia 47, autosomal recessive10.2DSG2, RYR2
4bleeding disorder, platelet-type, 1510.1DSG2, RYR2
5arrhythmogenic right ventricular dysplasia 210.1DSG2, RYR2
6branchiooculofacial syndrome10.1DSP, JUP
7lipodystrophy, familial partial, 210.1LDB3, LMNA
8skin fragility-woolly hair syndrome10.1DSP, JUP
9gupta patton syndrome10.1DSP, JUP
10chromosome 15q11-q13 duplication syndrome10.0DSP, JUP
11myopathy, early-onset, with fatal cardiomyopathy10.0LDB3, TTN
12peripheral t-cell lymphoma10.0DSG2, DSP
13mosaic trisomy 19.9DSG2, DSP, LMNA
14retinitis pigmentosa 189.9DSG2, DSP, LMNA
15autoimmune thyroid disease 29.9LDB3, TTN
16pol iii-related leukodystrophies9.9DSG2, DSP, JUP
17pompholyx9.9DSG2, DSP, JUP
18codas syndrome9.9DSC2, DSP, JUP
19choanal atresia and lymphedema9.9DSC2, DSP, JUP
20celiac disease 29.9LDB3, TTN
21lipoma9.9DSC2, DSP, JUP
22sed, maroteaux type9.9DSC2, DSP, JUP
23folinic acid-responsive seizures9.8DSC2, DSG2, DSP
24nonsyndromic hearing loss and deafness, mitochondrial9.8LDB3, TTN
25myelofibrosis9.8RYR2, TTN
26primary cutaneous gamma/delta-positive t-cell lymphoma9.8DSG2, LDB3, TTN
27pallister-killian syndrome9.8DSP, JUP, PKP2, RYR2, TGFB3
28ventricular tachycardia, catecholaminergic polymorphic, 49.8DSP, JUP, PKP2, RYR2, TGFB3
29klippel-feil syndrome 29.8DSC2, DSP, JUP, PKP2
30pollen allergy9.8LDB3, LMNA, RYR2, TTN
31epidermolysis bullosa, lethal acantholytic9.7DSP, JUP, PKP2, RYR2, TGFB3, TMEM43
32emery-dreifuss muscular dystrophy, dominant type9.2DSG2, DSP, JUP, LDB3, LMNA, RYR2
33pervasive developmental disorder8.9DSC2, DSG2, DSP, JUP, LMNA, PKP2
34cdkl5-related angelman-like syndrome8.6DSC2, DSG2, DSP, JUP, LDB3, LMNA
35familial partial lipodystrophy8.5CTNNA3, DSC2, DSG2, DSP, JUP, LDB3
36fibular hemimelia, bilateral8.5CTNNA3, DSC2, DSG2, DSP, JUP, LDB3
37fibular hemimelia, unilateral8.5CTNNA3, DSC2, DSG2, DSP, JUP, LDB3
38congenital absence of upper arm and forearm with hand present, bilateral8.5CTNNA3, 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:00053696.9CTNNA3, DSP, JUP, LDB3, LMNA, PKP2
2MP:00107686.9CTNNA3, DSG2, DSP, JUP, LDB3, LMNA
3MP:00053856.8CTNNA3, DSC2, 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
1adherens junctionGO:000591210.1CTNNA3, JUP, PKP2
2fascia adherensGO:00059169.8CTNNA3, DSP, JUP
3extracellular matrixGO:00310129.5DSP, JUP, LMNA, TGFB3
4intermediate filamentGO:00058829.3DSP, JUP, LMNA, PKP2
5cell-cell junctionGO:00059119.3DSG2, DSP, JUP, PKP2
6cell junctionGO:00300548.7DSC2, DSG2, DSP, JUP, PKP2
7cornified envelopeGO:00015338.7DSC2, DSG2, DSP, JUP, PKP2
8desmosomeGO:00300578.7DSC2, DSG2, DSP, JUP, PKP2
9intercalated discGO:00147048.7DSC2, DSG2, DSP, JUP, PKP2
10Z discGO:00300188.5JUP, LDB3, RYR2, TTN

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1cell communication by electrical coupling involved in cardiac conductionGO:008606410.5PKP2, RYR2
2desmosome assemblyGO:000215910.4JUP, PKP2
3establishment of protein localization to plasma membraneGO:009000210.4JUP, PKP2
4response to progesteroneGO:003257010.3DSG2, TGFB3
5adherens junction organizationGO:003433210.2DSP, JUP
6desmosome organizationGO:000293410.1DSG2, DSP
7cardiac muscle contractionGO:006004810.1RYR2, TTN
8cardiac muscle hypertrophyGO:000330010.1RYR2, TTN
9positive regulation of protein secretionGO:005071410.0TGFB3, TTN
10ventricular cardiac muscle cell action potentialGO:00860059.9PKP2, RYR2
11sarcomere organizationGO:00452149.8LDB3, TTN
12skin developmentGO:00435889.8DSP, JUP
13single organismal cell-cell adhesionGO:00163379.3CTNNA3, DSP, JUP, PKP2
14cell adhesionGO:00071558.9CTNNA3, DSC2, DSG2, JUP, PKP2
15cornificationGO:00702688.7DSC2, DSG2, DSP, JUP, PKP2
16keratinizationGO:00314248.7DSC2, DSG2, DSP, JUP, PKP2
17bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:00860738.4CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
18regulation of heart rate by cardiac conductionGO:00860918.3CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
19regulation of ventricular cardiac muscle cell action potentialGO:00989118.0CTNNA3, 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
1alpha-catenin bindingGO:004529410.5JUP, PKP2
2muscle alpha-actinin bindingGO:005137110.1LDB3, TTN
3protein kinase C bindingGO:00050809.8DSP, LDB3, PKP2
4cell adhesion molecule bindingGO:00508399.8DSG2, DSP, JUP
5protein self-associationGO:00436219.7RYR2, TMEM43, TTN
6structural molecule activityGO:00051989.1DSP, JUP, LMNA
7cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communicationGO:00860838.5CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
8protein bindingGO:00055156.4CTNNA3, DSC2, DSP, JUP, LDB3, LMNA

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