MCID: FML213
MIFTS: 26

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

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

MalaCards integrated aliases for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form:

Name: Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 55
Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Right Dominant Form 55
Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Classic Form 55
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Classic Form 55

Classifications:



External Ids:

Orphanet 55 ORPHA293910
ICD10 via Orphanet 33 I42.8

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

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 emery-dreifuss muscular dystrophy 2, autosomal dominant and muscular dystrophy, limb-girdle, type 2j. An important gene associated with Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form is RYR2 (Ryanodine Receptor 2), and among its related pathways/superpathways are Keratinization and Dilated cardiomyopathy (DCM). Related phenotypes are cardiovascular system and mortality/aging

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

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

(show all 39)
# Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.3 LMNA TMEM43
2 muscular dystrophy, limb-girdle, type 2j 10.3 LDB3 TTN
3 myopathy, myofibrillar, 3 10.2 LDB3 TTN
4 myopathy, spheroid body 10.2 LDB3 TTN
5 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.2 DSG2 RYR2
6 cardiac conduction defect 10.1 DSP RYR2
7 cardiomyopathy, dilated, 1a 10.1 LDB3 LMNA
8 myofibrillar myopathy 10.1 LDB3 TTN
9 ventricular fibrillation, paroxysmal familial, 1 10.1 DSP RYR2
10 arrhythmogenic right ventricular dysplasia, familial, 2 10.0 JUP RYR2
11 hidradenitis suppurativa 9.9 DSC2 DSG2
12 familial isolated dilated cardiomyopathy 9.9 DSG2 LDB3 TTN
13 hidradenitis 9.9 DSC2 DSG2
14 hypertrophic cardiomyopathy 9.9 LMNA RYR2 TTN
15 epidermolysis bullosa, lethal acantholytic 9.8 DSP JUP
16 grover's disease 9.8 DSP JUP
17 cardiomyopathy, dilated, 1e 9.8 DSP LMNA
18 cardiomyopathy, dilated, with woolly hair and keratoderma 9.8 DSP JUP
19 brugada syndrome 9.7 JUP PKP2 TMEM43
20 benign chronic pemphigus 9.7 DSP JUP
21 darier-white disease 9.7 DSP JUP
22 paraneoplastic pemphigus 9.7 DSC2 DSG2 DSP
23 left ventricular noncompaction 9.6 LDB3 LMNA PKP2 RYR2 TTN
24 palmoplantar keratoderma and woolly hair 9.5 DSC2 DSP JUP
25 ectodermal dysplasia/skin fragility syndrome 9.5 DSC2 DSP JUP
26 pemphigus vulgaris 9.4 DSG2 DSP JUP
27 pemphigus 9.4 DSG2 DSP JUP
28 palmoplantar keratosis 9.3 DSP JUP
29 naxos disease 9.3 DSC2 DSP JUP PKP2
30 heart disease 9.2 DSP LMNA PKP2 RYR2 TGFB3 TTN
31 arrhythmogenic right ventricular dysplasia, familial, 9 9.2 DSP JUP PKP2 RYR2 TGFB3
32 arrhythmogenic right ventricular dysplasia, familial, 1 9.2 DSP JUP PKP2 RYR2 TGFB3
33 arrhythmogenic right ventricular dysplasia, familial, 8 8.9 DSP JUP PKP2 RYR2 TGFB3 TMEM43
34 atrial standstill 1 8.6 DSC2 DSG2 DSP JUP LMNA PKP2
35 dilated cardiomyopathy 8.0 DSC2 DSG2 DSP JUP LDB3 LMNA
36 intrinsic cardiomyopathy 7.9 DSC2 DSG2 DSP JUP LMNA PKP2
37 arrhythmogenic right ventricular cardiomyopathy 7.0 CTNNA3 DSC2 DSG2 DSP JUP LDB3
38 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 7.0 CTNNA3 DSC2 DSG2 DSP JUP LDB3
39 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 7.0 CTNNA3 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...

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 CTNNA3 DSC2 DSP JUP LDB3 LMNA
2 mortality/aging MP:0010768 9.65 DSP JUP LDB3 LMNA PKP2 RYR2
3 muscle MP:0005369 9.23 CTNNA3 DSP JUP LDB3 LMNA PKP2

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

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

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

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

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

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

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

GO Terms for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right...

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

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.88 DSC2 DSG2 DSP JUP PKP2
2 extracellular matrix GO:0031012 9.76 DSP JUP LMNA TGFB3
3 intermediate filament GO:0005882 9.71 DSP JUP LMNA PKP2
4 cell-cell junction GO:0005911 9.67 DSG2 DSP JUP PKP2
5 Z disc GO:0030018 9.62 JUP LDB3 RYR2 TTN
6 adherens junction GO:0005912 9.61 CTNNA3 JUP PKP2
7 cornified envelope GO:0001533 9.55 DSC2 DSG2 DSP JUP PKP2
8 fascia adherens GO:0005916 9.43 CTNNA3 DSP JUP
9 intercalated disc GO:0014704 9.35 DSC2 DSG2 DSP JUP PKP2
10 desmosome GO:0030057 9.02 DSC2 DSG2 DSP JUP PKP2

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.85 CTNNA3 DSC2 DSG2 JUP PKP2
2 keratinization GO:0031424 9.72 DSC2 DSG2 DSP JUP PKP2
3 cell-cell adhesion GO:0098609 9.67 CTNNA3 DSP JUP PKP2
4 cornification GO:0070268 9.65 DSC2 DSG2 DSP JUP PKP2
5 regulation of heart rate by cardiac conduction GO:0086091 9.63 CTNNA3 DSC2 DSG2 DSP JUP PKP2
6 cardiac muscle contraction GO:0060048 9.58 RYR2 TTN
7 skin development GO:0043588 9.57 DSP JUP
8 response to progesterone GO:0032570 9.56 DSG2 TGFB3
9 positive regulation of protein secretion GO:0050714 9.55 TGFB3 TTN
10 sarcomere organization GO:0045214 9.54 LDB3 TTN
11 adherens junction organization GO:0034332 9.52 DSP JUP
12 ventricular cardiac muscle cell action potential GO:0086005 9.51 PKP2 RYR2
13 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.5 CTNNA3 DSC2 DSG2 DSP JUP PKP2
14 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.49 PKP2 RYR2
15 cardiac muscle hypertrophy GO:0003300 9.48 RYR2 TTN
16 desmosome organization GO:0002934 9.43 DSG2 DSP
17 desmosome assembly GO:0002159 9.4 JUP PKP2
18 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.1 CTNNA3 DSC2 DSG2 DSP JUP PKP2

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

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.54 DSP JUP LMNA
2 cell adhesion molecule binding GO:0050839 9.33 DSG2 DSP JUP
3 muscle alpha-actinin binding GO:0051371 9.32 LDB3 TTN
4 alpha-catenin binding GO:0045294 9.26 JUP PKP2
5 protein kinase C binding GO:0005080 9.13 DSP LDB3 PKP2
6 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.02 DSC2 DSG2 DSP JUP PKP2

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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