MCID: FML214
MIFTS: 22

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 58
Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Biventricular Form 58

Classifications:



External Ids:

ICD10 via Orphanet 33 I42.8
Orphanet 58 ORPHA293899

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 CTNNA3 (Catenin Alpha 3), and among its related pathways/superpathways are Keratinization and Dilated cardiomyopathy. Affiliated tissues include 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 top 50) (show all 92)
# 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 mobitz type ii atrioventricular block 10.1 LMNA LDB3
5 ritter's disease 10.1 DSP DSG2 DSC2
6 paraneoplastic pemphigus 10.1 DSP DSG2 DSC2
7 bullous skin disease 10.1 DSP DSG2 DSC2
8 benign chronic pemphigus 10.1 JUP DSP
9 palmoplantar keratoderma and woolly hair 10.1 JUP DSP DSC2
10 ectodermal dysplasia/skin fragility syndrome 10.1 JUP DSP DSC2
11 darier-white disease 10.1 JUP DSP DSC2
12 ventricular fibrillation, paroxysmal familial, 1 10.1 RYR2 DSP
13 right bundle branch block 10.1 PKP2 DSG2
14 pemphigus vulgaris, familial 10.1 JUP DSP DSG2
15 myopathy, myofibrillar, 3 10.0 TTN LDB3
16 autosomal recessive limb-girdle muscular dystrophy type 2a 10.0 TTN LMNA
17 myopathy, myofibrillar, 4 10.0 TTN LDB3
18 hair disease 10.0 LMNA DSP DSC2
19 brugada syndrome 1 10.0 RYR2 LDB3
20 left ventricular noncompaction 1 10.0 PKP2 LDB3 JUP
21 myopathy, myofibrillar, 9, with early respiratory failure 10.0 TTN LDB3
22 syncope 9.9 TTN RYR2
23 pemphigus 9.9 JUP DSP DSG2 DSC2
24 congenital structural myopathy 9.9 TTN RYR2
25 myopathy, myofibrillar, 1 9.9 TTN LMNA LDB3
26 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.9 TMEM43 LMNA
27 cardiomyopathy, dilated, 1b 9.9 TTN LMNA DSP
28 emery-dreifuss muscular dystrophy 3, autosomal recessive 9.9 TMEM43 LMNA
29 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.9 RYR2 PKP2 DSP
30 emery-dreifuss muscular dystrophy 4, autosomal dominant 9.9 TMEM43 LMNA
31 tibial muscular dystrophy 9.9 TTN LDB3
32 charcot-marie-tooth disease, axonal, type 2b1 9.9 TMEM43 LMNA
33 emery-dreifuss muscular dystrophy 1, x-linked 9.9 TMEM43 LMNA
34 rigid spine muscular dystrophy 1 9.9 TTN LMNA LDB3
35 myofibrillar myopathy 9.9 TTN LMNA LDB3
36 myopathy, x-linked, with postural muscle atrophy 9.9 TMEM43 LMNA
37 cardiomyopathy, dilated, 1dd 9.8 TTN RYR2 LDB3
38 nonaka myopathy 9.8 TTN LDB3
39 atrial fibrillation 9.8 TTN RYR2 LMNA
40 atrioventricular block 9.8 TTN RYR2 LMNA
41 isolated elevated serum creatine phosphokinase levels 9.8 TTN RYR2 LMNA
42 lmna-related dilated cardiomyopathy 9.8 TTN LMNA DSP DSC2
43 ebstein anomaly 9.8 TMEM43 LDB3
44 cardiac conduction defect 9.8 RYR2 LMNA DSP DSG2
45 long qt syndrome 1 9.7 RYR2 PKP2 DSP DSG2
46 cardiac arrhythmia 9.7 RYR2 PKP2 JUP DSP
47 cardiac arrest 9.7 TTN RYR2 DSP DSG2
48 palmoplantar keratosis 9.7 PKP2 JUP DSP DSG2 DSC2
49 cardiomyopathy, dilated, 1e 9.7 TTN PKP2 LMNA DSP
50 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.6 TTN TMEM43 LMNA

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 9.93 CTNNA3 DSC2 DSG2 DSP JUP LDB3
2 mortality/aging MP:0010768 9.7 CTNNA3 DSG2 DSP JUP LDB3 LMNA
3 muscle MP:0005369 9.28 CTNNA3 DSG2 DSP JUP LDB3 LMNA

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:

40
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 9.85 PKP2 JUP DSP DSG2 DSC2
2 cell-cell junction GO:0005911 9.77 PKP2 JUP DSP DSG2 DSC2
3 intermediate filament GO:0005882 9.73 PKP2 LMNA JUP DSP
4 Z disc GO:0030018 9.71 TTN RYR2 LDB3 JUP
5 adherens junction GO:0005912 9.65 PKP2 LDB3 JUP DSC2 CTNNA3
6 intercalated disc GO:0014704 9.55 PKP2 JUP DSP DSG2 DSC2
7 fascia adherens GO:0005916 9.5 JUP DSP CTNNA3
8 cornified envelope GO:0001533 9.35 PKP2 JUP DSP DSG2 DSC2
9 desmosome GO:0030057 9.02 PKP2 JUP DSP DSG2 DSC2

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.85 PKP2 JUP DSG2 DSC2 CTNNA3
2 keratinization GO:0031424 9.8 PKP2 JUP DSP DSG2 DSC2
3 cell-cell adhesion GO:0098609 9.73 PKP2 JUP DSP DSG2 DSC2 CTNNA3
4 cornification GO:0070268 9.72 PKP2 JUP DSP DSG2 DSC2
5 regulation of heart rate by cardiac conduction GO:0086091 9.63 PKP2 JUP DSP DSG2 DSC2 CTNNA3
6 adherens junction organization GO:0034332 9.57 JUP DSP
7 cardiac muscle contraction GO:0060048 9.56 TTN RYR2
8 response to progesterone GO:0032570 9.55 TGFB3 DSG2
9 sarcomere organization GO:0045214 9.54 TTN LDB3
10 desmosome organization GO:0002934 9.54 PKP2 DSP DSG2
11 ventricular cardiac muscle cell action potential GO:0086005 9.52 RYR2 PKP2
12 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.51 RYR2 PKP2
13 epithelial cell-cell adhesion GO:0090136 9.49 DSP CTNNA3
14 cardiac muscle hypertrophy GO:0003300 9.48 TTN RYR2
15 desmosome assembly GO:0002159 9.43 PKP2 JUP
16 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.43 PKP2 JUP DSP DSG2 DSC2 CTNNA3
17 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, Biventricular Form according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.54 LMNA JUP DSP
2 cell adhesion molecule binding GO:0050839 9.33 JUP DSP DSG2
3 muscle alpha-actinin binding GO:0051371 9.32 TTN LDB3
4 alpha-catenin binding GO:0045294 9.26 PKP2 JUP
5 protein kinase C binding GO:0005080 9.13 PKP2 LDB3 DSP
6 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,...

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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