MCID: FML214
MIFTS: 25

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form

Categories: Rare diseases, Cardiovascular diseases, Genetic 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 emery-dreifuss muscular dystrophy 2, autosomal dominant and muscular dystrophy, limb-girdle, type 2j. An important gene associated with Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular 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,...

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.5 LMNA TMEM43
2 muscular dystrophy, limb-girdle, type 2j 10.4 LDB3 TTN
3 myopathy, myofibrillar, 3 10.4 LDB3 TTN
4 myopathy, spheroid body 10.3 LDB3 TTN
5 cardiomyopathy, dilated, 1a 10.2 LDB3 LMNA
6 ventricular fibrillation, paroxysmal familial, 1 10.1 DSP RYR2
7 arrhythmogenic right ventricular dysplasia, familial, 2 10.0 JUP RYR2
8 muscular dystrophy, congenital, lmna-related 10.0 LMNA TTN
9 hidradenitis suppurativa 9.9 DSC2 DSG2
10 cardiac conduction defect 9.9 DSP LMNA RYR2
11 hidradenitis 9.9 DSC2 DSG2
12 familial isolated dilated cardiomyopathy 9.8 DSG2 LDB3 TTN
13 cardiomyopathy, dilated, 1e 9.8 DSP LMNA TTN
14 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.7 DSG2 DSP RYR2
15 cardiac arrhythmia 9.6 JUP RYR2
16 grover's disease 9.6 DSP JUP
17 epidermolysis bullosa, lethal acantholytic 9.6 DSP JUP
18 cardiomyopathy, dilated, with woolly hair and keratoderma 9.6 DSP JUP
19 brugada syndrome 9.5 JUP PKP2 TMEM43
20 benign chronic pemphigus 9.5 DSP JUP
21 darier-white disease 9.5 DSP JUP
22 paraneoplastic pemphigus 9.5 DSC2 DSG2 DSP
23 palmoplantar keratoderma and woolly hair 9.1 DSC2 DSP JUP
24 ectodermal dysplasia/skin fragility syndrome 9.1 DSC2 DSP JUP
25 pemphigus vulgaris 9.0 DSG2 DSP JUP
26 pemphigus 9.0 DSG2 DSP JUP
27 hypertrophic cardiomyopathy 9.0 DSP LDB3 LMNA RYR2 TTN
28 palmoplantar keratosis 8.9 DSP JUP
29 naxos disease 8.8 DSC2 DSP JUP PKP2
30 heart disease 8.8 DSP LMNA PKP2 RYR2 TGFB3 TTN
31 arrhythmogenic right ventricular dysplasia, familial, 9 8.7 DSP JUP PKP2 RYR2 TGFB3
32 arrhythmogenic right ventricular dysplasia, familial, 8 8.3 DSP JUP PKP2 RYR2 TGFB3 TMEM43
33 arrhythmogenic right ventricular dysplasia, familial, 1 7.7 DSG2 DSP JUP PKP2 RYR2 TGFB3
34 atrial standstill 1 7.4 DSC2 DSG2 DSP JUP LMNA PKP2
35 left ventricular noncompaction 7.1 CTNNA3 DSP JUP LDB3 LMNA PKP2
36 intrinsic cardiomyopathy 6.7 DSC2 DSG2 DSP JUP LMNA PKP2
37 dilated cardiomyopathy 5.6 CTNNA3 DSC2 DSG2 DSP JUP LDB3
38 arrhythmogenic right ventricular cardiomyopathy 5.2 CTNNA3 DSC2 DSG2 DSP JUP LDB3
39 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 5.2 CTNNA3 DSC2 DSG2 DSP JUP LDB3
40 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 5.2 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 PKP2 RYR2 TTN CTNNA3 DSP JUP

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,...

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 9.85 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 Z disc GO:0030018 9.62 JUP LDB3 RYR2 TTN
5 adherens junction GO:0005912 9.61 CTNNA3 JUP PKP2
6 cornified envelope GO:0001533 9.55 DSC2 DSG2 DSP JUP PKP2
7 fascia adherens GO:0005916 9.43 CTNNA3 DSP JUP
8 intercalated disc GO:0014704 9.35 DSC2 DSG2 DSP JUP PKP2
9 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 response to progesterone GO:0032570 9.56 DSG2 TGFB3
9 sarcomere organization GO:0045214 9.55 LDB3 TTN
10 adherens junction organization GO:0034332 9.54 DSP JUP
11 positive regulation of protein secretion GO:0050714 9.52 TGFB3 TTN
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 9.73 DSC2 DSG2 RYR2 TTN
2 structural molecule activity GO:0005198 9.58 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

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
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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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