MCID: FML214
MIFTS: 27

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

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

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

Name: Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 59
Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Biventricular Form 59

Classifications:



External Ids:

Orphanet 59 ORPHA293899
ICD10 via Orphanet 34 I42.8

Summaries for Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

MalaCards based summary : Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form, also known as familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form, is related to grover's disease and epidermolysis bullosa, lethal acantholytic. An important gene associated with Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form is LMNA (Lamin A/C), and among its related pathways/superpathways are Keratinization and Dilated cardiomyopathy (DCM). Affiliated tissues include skin and heart, and related phenotypes are cardiovascular system and mortality/aging

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

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

(show all 45)
# Related Disease Score Top Affiliating Genes
1 grover's disease 10.2 DSP JUP
2 epidermolysis bullosa, lethal acantholytic 10.2 DSP JUP
3 cardiomyopathy, dilated, 1a 10.2 LDB3 LMNA
4 benign chronic pemphigus 10.2 DSP JUP
5 darier-white disease 10.2 DSP JUP
6 myopathy, myofibrillar, 3 10.1 LDB3 TTN
7 left bundle branch hemiblock 10.1 JUP PKP2
8 hidradenitis suppurativa 10.1 DSC2 DSG2
9 myopathy, spheroid body 10.1 LDB3 TTN
10 hidradenitis 10.1 DSC2 DSG2
11 ventricular fibrillation, paroxysmal familial, 1 10.1 DSP RYR2
12 palmoplantar keratoderma and woolly hair 10.1 DSC2 DSP JUP
13 pemphigus 10.1 DSG2 DSP JUP
14 ectodermal dysplasia/skin fragility syndrome 10.1 DSC2 DSP JUP
15 pemphigus vulgaris 10.1 DSG2 DSP JUP
16 arrhythmogenic right ventricular dysplasia, familial, 4 10.1 PKP2 TGFB3
17 bullous skin disease 10.1 DSC2 DSP
18 cardiac conduction defect 10.0 DSP LMNA RYR2
19 paraneoplastic pemphigus 10.0 DSC2 DSG2 DSP
20 myofibrillar myopathy 10.0 LDB3 LMNA TTN
21 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.0 DSG2 DSP RYR2
22 cardiomyopathy, dilated, 1e 10.0 DSP LMNA TTN
23 arrhythmogenic right ventricular dysplasia, familial, 2 10.0 JUP RYR2 TGFB3
24 familial isolated dilated cardiomyopathy 10.0 DSG2 LDB3 TTN
25 sick sinus syndrome 10.0 LMNA TTN
26 cardiac arrhythmia 10.0 JUP RYR2
27 palmoplantar keratosis 9.9 DSP JUP
28 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.9 LMNA TMEM43
29 long qt syndrome 1 9.9 DSP PKP2 RYR2
30 naxos disease 9.9 DSC2 DSP JUP PKP2
31 muscular disease 9.9 LDB3 LMNA RYR2 TTN
32 brugada syndrome 9.8 JUP PKP2 TMEM43
33 hypertrophic cardiomyopathy 9.8 DSP LDB3 LMNA RYR2 TTN
34 cardiomyopathy, dilated, with woolly hair and keratoderma 9.7 DSC2 DSP JUP PKP2 TGFB3
35 arrhythmogenic right ventricular dysplasia, familial, 9 9.7 DSP JUP PKP2 RYR2 TGFB3
36 arrhythmogenic right ventricular dysplasia, familial, 1 9.6 DSG2 DSP JUP RYR2 TGFB3 TTN
37 heart disease 9.5 DSP LMNA PKP2 RYR2 TGFB3 TTN
38 atrial standstill 1 9.5 DSC2 DSG2 DSP JUP LMNA PKP2
39 arrhythmogenic right ventricular dysplasia, familial, 8 9.4 DSP JUP PKP2 RYR2 TGFB3 TMEM43
40 left ventricular noncompaction 9.1 CTNNA3 DSP JUP LDB3 LMNA PKP2
41 intrinsic cardiomyopathy 9.0 DSC2 DSG2 DSP JUP LMNA PKP2
42 dilated cardiomyopathy 8.6 CTNNA3 DSC2 DSG2 DSP JUP LDB3
43 arrhythmogenic right ventricular cardiomyopathy 8.5 CTNNA3 DSC2 DSG2 DSP JUP LDB3
44 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 8.5 CTNNA3 DSC2 DSG2 DSP JUP LDB3
45 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 8.5 CTNNA3 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 & Phenotypes for Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

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

46
# 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 CTNNA3 DSG2 DSP JUP LDB3 LMNA
3 muscle MP:0005369 9.23 CTNNA3 DSP JUP LDB3 LMNA PKP2

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

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

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

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

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

41
Skin, Heart

Publications for Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

Variations for Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

Expression for Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

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

Pathways for Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

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

Cellular components related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular 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 intermediate filament GO:0005882 9.71 DSP JUP LMNA PKP2
3 cell-cell junction GO:0005911 9.67 DSG2 DSP JUP PKP2
4 cell-cell adherens junction GO:0005913 9.63 DSC2 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, Biventricular 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 adherens junction organization GO:0034332 9.56 DSP JUP
9 positive regulation of protein secretion GO:0050714 9.55 TGFB3 TTN
10 sarcomere organization GO:0045214 9.54 LDB3 TTN
11 response to progesterone GO:0032570 9.52 DSG2 TGFB3
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, Biventricular Form according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.76 DSC2 DSG2 RYR2 TTN
2 structural molecule activity GO:0005198 9.61 DSP JUP LMNA
3 cell adhesion molecule binding GO:0050839 9.43 DSG2 DSP JUP
4 muscle alpha-actinin binding GO:0051371 9.37 LDB3 TTN
5 protein self-association GO:0043621 9.33 RYR2 TMEM43 TTN
6 alpha-catenin binding GO:0045294 9.32 JUP PKP2
7 protein kinase C binding GO:0005080 9.13 DSP LDB3 PKP2
8 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.02 DSC2 DSG2 DSP JUP PKP2
9 protein binding GO:0005515 10.14 CTNNA3 DSC2 DSP JUP LDB3 LMNA

Sources for Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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