MCID: FML215
MIFTS: 22

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

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

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

Name: Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 59
Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Left Dominant Form 59

Classifications:



External Ids:

ICD10 via Orphanet 34 I42.8
Orphanet 59 ORPHA293888

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

MalaCards based summary : Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form, also known as familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form, is related to grover's disease and epidermolysis bullosa, lethal acantholytic. An important gene associated with Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form is CTNNA3 (Catenin Alpha 3), and among its related pathways/superpathways are Keratinization and Dilated cardiomyopathy (DCM). Affiliated tissues include heart, and related phenotypes are cardiovascular system and mortality/aging

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

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

(show all 44)
# Related Disease Score Top Affiliating Genes
1 grover's disease 10.4 JUP DSP
2 epidermolysis bullosa, lethal acantholytic 10.4 JUP DSP
3 benign chronic pemphigus 10.4 JUP DSP
4 hidradenitis 10.3 DSG2 DSC2
5 darier-white disease 10.3 JUP DSP
6 hidradenitis suppurativa 10.3 DSG2 DSC2
7 left bundle branch hemiblock 10.3 PKP2 JUP
8 paraneoplastic pemphigus 10.2 DSP DSG2 DSC2
9 bullous skin disease 10.2 DSP DSC2
10 palmoplantar keratoderma and woolly hair 10.2 JUP DSP DSC2
11 cardiomyopathy, dilated, 1a 10.2 LMNA LDB3
12 ectodermal dysplasia/skin fragility syndrome 10.2 JUP DSP DSC2
13 myopathy, myofibrillar, 3 10.2 TTN LDB3
14 pemphigus 10.2 JUP DSP DSG2
15 ventricular fibrillation, paroxysmal familial, 1 10.1 RYR2 DSP
16 myopathy, spheroid body 10.1 TTN LDB3
17 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.0 RYR2 DSP DSG2
18 arrhythmogenic right ventricular dysplasia, familial, 4 10.0 TGFB3 PKP2
19 familial isolated dilated cardiomyopathy 9.9 TTN LDB3 DSG2
20 cardiac conduction defect 9.9 RYR2 LMNA DSP
21 cardiomyopathy, dilated, 1e 9.9 TTN LMNA DSP
22 sick sinus syndrome 9.9 TTN LMNA
23 myofibrillar myopathy 9.8 TTN LMNA LDB3
24 cardiac arrhythmia 9.8 RYR2 JUP
25 palmoplantar keratosis 9.8 JUP DSP
26 long qt syndrome 1 9.8 RYR2 PKP2 DSP
27 naxos disease 9.8 PKP2 JUP DSP DSC2
28 arrhythmogenic right ventricular dysplasia, familial, 2 9.7 TGFB3 RYR2 JUP
29 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.7 TMEM43 LMNA
30 brugada syndrome 9.5 TMEM43 PKP2 JUP
31 muscular disease 9.4 TTN RYR2 LMNA LDB3
32 cardiomyopathy, dilated, with woolly hair and keratoderma 9.2 TGFB3 PKP2 JUP DSP DSC2
33 hypertrophic cardiomyopathy 9.1 TTN RYR2 LMNA LDB3 DSP
34 arrhythmogenic right ventricular dysplasia, familial, 9 9.0 TGFB3 RYR2 PKP2 JUP DSP
35 arrhythmogenic right ventricular dysplasia, familial, 1 8.7 TTN TGFB3 RYR2 JUP DSP DSG2
36 atrial standstill 1 8.6 TTN PKP2 LMNA JUP DSP DSG2
37 heart disease 8.4 TTN TGFB3 RYR2 PKP2 LMNA DSP
38 arrhythmogenic right ventricular dysplasia, familial, 8 8.2 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
39 left ventricular noncompaction 7.5 TTN TGFB3 RYR2 PKP2 LMNA LDB3
40 intrinsic cardiomyopathy 7.4 TTN TMEM43 RYR2 PKP2 LMNA JUP
41 dilated cardiomyopathy 6.8 TTN TMEM43 RYR2 PKP2 LMNA LDB3
42 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 6.2 TTN TMEM43 TGFB3 RYR2 PKP2 LMNA
43 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 6.2 TTN TMEM43 TGFB3 RYR2 PKP2 LMNA
44 arrhythmogenic right ventricular cardiomyopathy 6.2 TTN TMEM43 TGFB3 RYR2 PKP2 LMNA

Graphical network of the top 20 diseases related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form:



Diseases related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form

Symptoms & Phenotypes for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left...

MGI Mouse Phenotypes related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant 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, Left...

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

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

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

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

41
Heart

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

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

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

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

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

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

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

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.88 PKP2 JUP DSP DSG2 DSC2
2 intermediate filament GO:0005882 9.71 PKP2 LMNA JUP DSP
3 cell-cell junction GO:0005911 9.67 PKP2 JUP DSP DSG2
4 cell-cell adherens junction GO:0005913 9.63 PKP2 JUP DSC2
5 Z disc GO:0030018 9.62 TTN RYR2 LDB3 JUP
6 adherens junction GO:0005912 9.61 PKP2 JUP CTNNA3
7 cornified envelope GO:0001533 9.55 PKP2 JUP DSP DSG2 DSC2
8 fascia adherens GO:0005916 9.43 JUP DSP CTNNA3
9 intercalated disc GO:0014704 9.35 PKP2 JUP DSP DSG2 DSC2
10 desmosome GO:0030057 9.02 PKP2 JUP DSP DSG2 DSC2

Biological processes related to Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left 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 PKP2 JUP DSG2 DSC2 CTNNA3
2 keratinization GO:0031424 9.72 PKP2 JUP DSP DSG2 DSC2
3 cell-cell adhesion GO:0098609 9.67 PKP2 JUP DSP CTNNA3
4 cornification GO:0070268 9.65 PKP2 JUP DSP DSG2 DSC2
5 regulation of heart rate by cardiac conduction GO:0086091 9.63 PKP2 JUP DSP DSG2 DSC2 CTNNA3
6 cardiac muscle contraction GO:0060048 9.58 TTN RYR2
7 skin development GO:0043588 9.57 JUP DSP
8 adherens junction organization GO:0034332 9.56 JUP DSP
9 sarcomere organization GO:0045214 9.55 TTN LDB3
10 positive regulation of protein secretion GO:0050714 9.54 TTN TGFB3
11 response to progesterone GO:0032570 9.52 TGFB3 DSG2
12 ventricular cardiac muscle cell action potential GO:0086005 9.51 RYR2 PKP2
13 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.49 RYR2 PKP2
14 cardiac muscle hypertrophy GO:0003300 9.48 TTN RYR2
15 desmosome organization GO:0002934 9.43 DSP DSG2
16 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.43 PKP2 JUP DSP DSG2 DSC2 CTNNA3
17 desmosome assembly GO:0002159 9.4 PKP2 JUP
18 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, Left Dominant Form according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.76 TTN RYR2 DSG2 DSC2
2 structural molecule activity GO:0005198 9.43 JUP DSP
3 cell adhesion molecule binding GO:0050839 9.43 JUP DSP DSG2
4 muscle alpha-actinin binding GO:0051371 9.37 TTN LDB3
5 protein self-association GO:0043621 9.33 TTN TMEM43 RYR2
6 alpha-catenin binding GO:0045294 9.32 PKP2 JUP
7 protein kinase C binding GO:0005080 9.13 PKP2 LDB3 DSP
8 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.02 PKP2 JUP DSP DSG2 DSC2
9 protein binding GO:0005515 10.14 TTN TMEM43 TGFB3 RYR2 PKP2 LMNA

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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