MCID: FML213
MIFTS: 24

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form

Categories: Cardiovascular diseases, Genetic 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 58
Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Right Dominant Form 58
Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Classic Form 58
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Classic Form 58

Classifications:



External Ids:

ICD10 via Orphanet 33 I42.8
Orphanet 58 ORPHA293910

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 grover's disease and epidermolysis bullosa, lethal acantholytic. An important gene associated with Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form is CDH2 (Cadherin 2), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include heart, and related phenotypes are cardiovascular system and mortality/aging

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

Diseases in the Familial Isolated Arrhythmogenic Right Ventricular Dysplasia family:

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form

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

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 grover's disease 10.2 JUP DSP
2 epidermolysis bullosa, lethal acantholytic 10.2 JUP DSP
3 diffuse palmoplantar keratoderma 10.2 JUP DSP
4 ritter's disease 10.1 DSP DSG2 DSC2
5 paraneoplastic pemphigus 10.1 DSP DSG2 DSC2
6 mobitz type ii atrioventricular block 10.1 LMNA LDB3
7 palmoplantar keratoderma and woolly hair 10.1 JUP DSP DSC2
8 ectodermal dysplasia/skin fragility syndrome 10.1 JUP DSP DSC2
9 bullous skin disease 10.1 DSP DSG2 DSC2
10 darier-white disease 10.1 JUP DSP DSC2
11 ventricular fibrillation, paroxysmal familial, 1 10.1 RYR2 DSP
12 pemphigus vulgaris, familial 10.1 JUP DSP DSG2
13 benign chronic pemphigus 10.0 JUP DSP
14 autosomal recessive limb-girdle muscular dystrophy type 2a 10.0 TTN LMNA
15 myopathy, myofibrillar, 3 10.0 TTN LDB3
16 right bundle branch block 10.0 PKP2 DSG2
17 hair disease 10.0 LMNA DSP DSC2
18 left ventricular noncompaction 1 10.0 PKP2 LDB3 JUP
19 brugada syndrome 1 9.9 RYR2 LDB3 DSG2
20 pemphigus 9.9 JUP DSP DSG2 DSC2
21 cardiac conduction defect 9.9 RYR2 LMNA DSP
22 syncope 9.9 TTN RYR2
23 cardiomyopathy, dilated, 1b 9.9 TTN LMNA DSP
24 myopathy, myofibrillar, 1 9.9 TTN LMNA LDB3
25 congenital structural myopathy 9.9 TTN RYR2
26 myopathy, myofibrillar, 9, with early respiratory failure 9.9 TTN LDB3
27 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.9 RYR2 PKP2 DSP
28 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.9 TMEM43 LMNA
29 emery-dreifuss muscular dystrophy 3, autosomal recessive 9.9 TMEM43 LMNA
30 charcot-marie-tooth disease, axonal, type 2b1 9.9 TMEM43 LMNA
31 rigid spine muscular dystrophy 1 9.8 TTN LMNA LDB3
32 myopathy, x-linked, with postural muscle atrophy 9.8 TMEM43 LMNA
33 cardiomyopathy, dilated, 1dd 9.8 TTN RYR2 LDB3
34 myofibrillar myopathy 9.8 TTN LMNA LDB3
35 emery-dreifuss muscular dystrophy 4, autosomal dominant 9.8 TMEM43 LMNA
36 emery-dreifuss muscular dystrophy 1, x-linked 9.8 TMEM43 LMNA
37 atrial fibrillation 9.8 TTN RYR2 LMNA
38 atrioventricular block 9.8 TTN RYR2 LMNA
39 lmna-related dilated cardiomyopathy 9.8 TTN LMNA DSP DSC2
40 isolated elevated serum creatine phosphokinase levels 9.8 TTN RYR2 LMNA
41 restrictive cardiomyopathy 9.8 TTN LMNA DSP DSG2
42 cardiac arrhythmia 9.7 RYR2 PKP2 JUP DSP
43 long qt syndrome 1 9.7 RYR2 PKP2 DSP DSG2
44 tibial muscular dystrophy 9.7 TTN LDB3
45 cardiac arrest 9.7 TTN RYR2 DSP DSG2
46 palmoplantar keratosis 9.7 PKP2 JUP DSP DSG2 DSC2
47 cardiomyopathy, dilated, 1e 9.7 TTN PKP2 LMNA DSP
48 ebstein anomaly 9.7 TMEM43 LDB3
49 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.6 TTN TMEM43 LMNA
50 familial atrial fibrillation 9.6 TTN RYR2 PKP2 DSG2

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.07 CDH2 CTNNA3 DSC2 DSG2 DSP JUP
2 mortality/aging MP:0010768 9.73 CDH2 CTNNA3 DSG2 DSP JUP LDB3
3 embryo MP:0005380 9.7 CDH2 DSP JUP RYR2 TGFB3 TMEM43
4 muscle MP:0005369 9.32 CDH2 CTNNA3 DSG2 DSP JUP LDB3

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

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

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

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

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

40
Heart

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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.93 PKP2 JUP DSP DSG2 DSC2 CDH2
2 cell-cell junction GO:0005911 9.85 PKP2 JUP DSP DSG2 DSC2 CDH2
3 adherens junction GO:0005912 9.8 PKP2 LDB3 JUP DSC2 CTNNA3 CDH2
4 intermediate filament GO:0005882 9.73 PKP2 LMNA JUP DSP
5 Z disc GO:0030018 9.71 TTN RYR2 LDB3 JUP
6 cornified envelope GO:0001533 9.65 PKP2 JUP DSP DSG2 DSC2
7 catenin complex GO:0016342 9.49 JUP CDH2
8 apicolateral plasma membrane GO:0016327 9.48 JUP CDH2
9 fascia adherens GO:0005916 9.46 JUP DSP CTNNA3 CDH2
10 desmosome GO:0030057 9.35 PKP2 JUP DSP DSG2 DSC2
11 intercalated disc GO:0014704 9.1 PKP2 JUP DSP DSG2 DSC2 CDH2

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.91 PKP2 JUP DSG2 DSC2 CTNNA3 CDH2
2 keratinization GO:0031424 9.8 PKP2 JUP DSP DSG2 DSC2
3 cell-cell adhesion GO:0098609 9.8 PKP2 JUP DSP DSG2 DSC2 CTNNA3
4 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.74 DSG2 DSC2 CDH2
5 protein localization to plasma membrane GO:0072659 9.73 PKP2 JUP CDH2
6 cornification GO:0070268 9.72 PKP2 JUP DSP DSG2 DSC2
7 adherens junction organization GO:0034332 9.63 JUP DSP CDH2
8 regulation of heart rate by cardiac conduction GO:0086091 9.63 PKP2 JUP DSP DSG2 DSC2 CTNNA3
9 cell-cell junction assembly GO:0007043 9.58 PKP2 CDH2
10 sarcomere organization GO:0045214 9.58 TTN LDB3
11 ventricular cardiac muscle cell action potential GO:0086005 9.55 RYR2 PKP2
12 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.54 RYR2 PKP2
13 desmosome organization GO:0002934 9.54 PKP2 DSP DSG2
14 epithelial cell-cell adhesion GO:0090136 9.52 DSP CTNNA3
15 cardiac muscle hypertrophy GO:0003300 9.51 TTN RYR2
16 detection of muscle stretch GO:0035995 9.49 TTN CDH2
17 desmosome assembly GO:0002159 9.48 PKP2 JUP
18 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.43 PKP2 JUP DSP DSG2 DSC2 CTNNA3
19 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.17 RYR2 PKP2 JUP DSP DSG2 DSC2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.93 TTN TMEM43 TGFB3 RYR2 LMNA CDH2
2 protein kinase binding GO:0019901 9.78 TTN RYR2 JUP CDH2
3 calcium ion binding GO:0005509 9.77 TTN RYR2 DSG2 DSC2 CDH2
4 enzyme binding GO:0019899 9.73 TTN RYR2 LDB3 CDH2
5 structural molecule activity GO:0005198 9.67 LMNA JUP DSP
6 cadherin binding GO:0045296 9.62 PKP2 JUP CTNNA3 CDH2
7 cell adhesion molecule binding GO:0050839 9.43 JUP DSP DSG2
8 muscle alpha-actinin binding GO:0051371 9.4 TTN LDB3
9 protein kinase C binding GO:0005080 9.33 PKP2 LDB3 DSP
10 alpha-catenin binding GO:0045294 9.13 PKP2 JUP CDH2
11 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.02 PKP2 JUP DSP DSG2 DSC2

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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