MCID: FML215
MIFTS: 23

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 58
Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Left Dominant Form 58

Classifications:



External Ids:

ICD10 via Orphanet 33 I42.8
Orphanet 58 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 ritter's disease and grover's disease. 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 skin, 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 top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 ritter's disease 10.3 DSG2 DSC2
2 grover's disease 10.3 JUP DSP
3 epidermolysis bullosa, lethal acantholytic 10.3 JUP DSP
4 diffuse palmoplantar keratoderma 10.3 JUP DSP
5 paraneoplastic pemphigus 10.1 DSP DSG2 DSC2
6 bullous skin disease 10.1 DSP DSG2 DSC2
7 palmoplantar keratoderma and woolly hair 10.1 JUP DSP DSC2
8 ectodermal dysplasia/skin fragility syndrome 10.1 JUP DSP DSC2
9 cellulitis 10.1 DSP DSG2 DSC2
10 darier-white disease 10.1 JUP DSP DSC2
11 pemphigus vulgaris, familial 10.1 JUP DSP DSG2
12 ventricular fibrillation, paroxysmal familial, 1 10.1 RYR2 DSP
13 myopathy, myofibrillar, 5 10.0 TTN LDB3
14 autosomal recessive limb-girdle muscular dystrophy type 2a 10.0 TTN LMNA
15 tibial muscular dystrophy 9.9 TTN LDB3
16 cardiomyopathy, dilated, 1b 9.9 TTN LMNA
17 myopathy, myofibrillar, 3 9.9 TTN LDB3
18 benign chronic pemphigus 9.9 JUP DSP DSG2 DSC2
19 familial isolated dilated cardiomyopathy 9.9 TTN LDB3 DSG2
20 pemphigus 9.9 JUP DSP DSG2 DSC2
21 syncope 9.9 TTN RYR2
22 cardiac conduction defect 9.9 RYR2 LMNA DSP
23 muscular dystrophy, limb-girdle, autosomal dominant 1 9.8 TTN LMNA
24 cardiomyopathy, dilated, 1e 9.8 TTN LMNA DSP
25 myopathy, myofibrillar, 1 9.8 TTN LDB3
26 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.8 RYR2 PKP2 DSP
27 emery-dreifuss muscular dystrophy 4, autosomal dominant 9.8 TMEM43 LMNA
28 emery-dreifuss muscular dystrophy 3, autosomal recessive 9.8 TMEM43 LMNA
29 cardiac arrhythmia 9.8 RYR2 PKP2 JUP
30 emery-dreifuss muscular dystrophy 1, x-linked 9.8 TMEM43 LMNA
31 emery-dreifuss muscular dystrophy 7, autosomal dominant 9.8 TMEM43 LMNA
32 myofibrillar myopathy 9.8 TTN LMNA LDB3
33 long qt syndrome 1 9.8 RYR2 PKP2 DSP
34 charcot-marie-tooth disease, axonal, type 2b1 9.8 TMEM43 LMNA
35 naxos disease 9.8 PKP2 JUP DSP DSC2
36 cardiomyopathy, dilated, 1dd 9.7 TTN RYR2 LDB3
37 atrial fibrillation 9.7 TTN RYR2 LMNA
38 atrioventricular block 9.7 TTN RYR2 LMNA
39 cardiomyopathy, dilated, 1a 9.7 TMEM43 LMNA
40 restrictive cardiomyopathy 9.6 TTN LMNA DSP DSG2
41 congenital structural myopathy 9.6 TTN RYR2
42 palmoplantar keratosis 9.5 PKP2 JUP DSP DSG2 DSC2
43 muscular dystrophy, congenital, lmna-related 9.4 TTN TMEM43 LMNA
44 muscular disease 9.4 TTN RYR2 LMNA LDB3
45 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.3 TMEM43 LMNA
46 arrhythmogenic right ventricular dysplasia, familial, 13 9.2 TGFB3 RYR2 PKP2 DSP CTNNA3
47 familial atrial fibrillation 9.1 TTN RYR2 PKP2 LMNA DSG2
48 arrhythmogenic right ventricular dysplasia, familial, 3 9.0 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
49 leopard syndrome 8.9 TMEM43 PKP2 JUP DSP DSG2 DSC2
50 rare cardiomyopathy 8.9 TTN RYR2 PKP2 LMNA DSP DSG2

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.03 CTNNA3 DSC2 DSG2 DSP JUP LDB3
2 mortality/aging MP:0010768 9.7 CTNNA3 DSG2 DSP JUP LDB3 LMNA
3 embryo MP:0005380 9.63 DSP JUP RYR2 TGFB3 TMEM43 TTN
4 muscle MP:0005369 9.28 CTNNA3 DSG2 DSP JUP LDB3 LMNA

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:

40
Heart, Skin

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 9.73 PKP2 LMNA JUP DSP
3 cell-cell junction GO:0005911 9.72 PKP2 JUP DSP DSG2 DSC2
4 Z disc GO:0030018 9.71 TTN RYR2 LDB3 JUP
5 cell-cell adherens junction GO:0005913 9.67 PKP2 LDB3 JUP DSC2
6 adherens junction GO:0005912 9.63 PKP2 JUP CTNNA3
7 intercalated disc GO:0014704 9.55 PKP2 JUP DSP DSG2 DSC2
8 fascia adherens GO:0005916 9.43 JUP DSP CTNNA3
9 cornified envelope GO:0001533 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 15)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.85 PKP2 JUP DSG2 DSC2 CTNNA3
2 keratinization GO:0031424 9.77 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 response to progesterone GO:0032570 9.55 TGFB3 DSG2
7 adherens junction organization GO:0034332 9.54 JUP DSP
8 sarcomere organization GO:0045214 9.52 TTN LDB3
9 ventricular cardiac muscle cell action potential GO:0086005 9.51 RYR2 PKP2
10 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.49 RYR2 PKP2
11 cardiac muscle hypertrophy GO:0003300 9.48 TTN RYR2
12 desmosome organization GO:0002934 9.43 DSP DSG2
13 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.43 PKP2 JUP DSP DSG2 DSC2 CTNNA3
14 desmosome assembly GO:0002159 9.4 PKP2 JUP
15 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 cell adhesion molecule binding GO:0050839 9.43 JUP DSP DSG2
2 muscle alpha-actinin binding GO:0051371 9.37 TTN LDB3
3 protein self-association GO:0043621 9.33 TTN TMEM43 RYR2
4 alpha-catenin binding GO:0045294 9.32 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, Left...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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