MCID: FML213
MIFTS: 24

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form

Categories: Rare diseases, Cardiovascular diseases, Genetic diseases

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

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

Name: Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 56
Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Right Dominant Form 56
Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Classic Form 56
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Classic Form 56

Classifications:



External Ids:

Orphanet 56 ORPHA293910
ICD10 via Orphanet 34 I42.8

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

MalaCards based summary : Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form, also known as familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form, is related to emery-dreifuss muscular dystrophy 2, ad and myelodysplastic myeloproliferative cancer. An important gene associated with Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form is RYR2 (Ryanodine Receptor 2), and among its related pathways/superpathways are Keratinization and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Related phenotypes are cardiovascular system and mortality/aging

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

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

(show all 40)
id Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 2, ad 10.5 LMNA TMEM43
2 myelodysplastic myeloproliferative cancer 10.4 RYR2 TTN
3 salih myopathy 10.4 LDB3 TTN
4 myopathy, spheroid body 10.3 LDB3 TTN
5 atrial standstill, digenic 10.2 DSG2 LMNA
6 cardiomyopathy, dilated, 1a 10.2 LDB3 LMNA
7 autoimmune thyroid disease 2 10.2 LDB3 TTN
8 sick sinus syndrome 1 10.1 DSP RYR2
9 nkx2-1-related disorders 10.1 LDB3 TTN
10 ventricular tachycardia, catecholaminergic polymorphic, 1 10.0 DSG2 LMNA RYR2
11 arrhythmogenic right ventricular dysplasia 2 10.0 JUP RYR2
12 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 9.9 DSG2 LDB3 TTN
13 peri-anal fistula 9.9 DSG2 DSP
14 leptospirosis 9.8 DSC2 DSG2
15 dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 9.7 DSP JUP
16 growth retardation hydrocephaly lung hypoplasia 9.7 DSP JUP
17 arrhythmogenic right ventricular dysplasia 8 9.7 DSP JUP
18 hyperphosphatemia 9.6 JUP PKP2 TMEM43
19 classic hairy cell leukemia 9.6 DSC2 DSG2 DSP
20 chicken egg allergy 9.6 LDB3 LMNA PKP2 RYR2 TTN
21 sudden infant death syndrome 9.6 DSP LMNA
22 carotid artery disease 9.4 DSP JUP
23 hypercholesterolemia, familial 9.3 DSC2 DSP JUP
24 ectodermal dysplasia/skin fragility syndrome 9.3 DSC2 DSP JUP
25 retinitis pigmentosa 4, autosomal dominant or recessive 9.3 DSC2 DSP JUP
26 acrokeratosis verruciformis 9.3 DSC2 DSP JUP
27 peripheral t-cell lymphoma 9.2 DSG2 DSP JUP
28 dyskinesia of esophagus 9.2 DSG2 DSP JUP
29 arrhythmogenic right ventricular dysplasia 12 9.1 DSC2 DSP JUP PKP2
30 xanthogranulomatous pyelonephritis 9.0 DSP LMNA PKP2 RYR2 TGFB3 TTN
31 vesicoureteral reflux 7 9.0 DSP JUP PKP2 RYR2 TGFB3
32 loeys-dietz syndrome 5 8.9 DSP JUP PKP2 RYR2 TGFB3
33 skin fragility-woolly hair syndrome 8.6 DSP JUP PKP2 RYR2 TGFB3 TMEM43
34 ectodermal dysplasia 8.4 DSP JUP LDB3 LMNA RYR2 TTN
35 autoimmune disease of skin and connective tissue 7.6 DSC2 DSG2 DSP JUP LMNA PKP2
36 casr-related disorders 6.8 DSC2 DSG2 DSP JUP LDB3 LMNA
37 usher syndrome 6.0 CTNNA3 DSC2 DSG2 DSP JUP LDB3
38 ulnar hemimelia, unilateral 6.0 CTNNA3 DSC2 DSG2 DSP JUP LDB3
39 ulnar hemimelia, bilateral 6.0 CTNNA3 DSC2 DSG2 DSP JUP LDB3
40 tibial hemimelia, bilateral 6.0 CTNNA3 DSC2 DSG2 DSP JUP LDB3

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



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

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

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 DSC2 DSP JUP LDB3 LMNA PKP2
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, Right...

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

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

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

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

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

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

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

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

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

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

id Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.88 DSC2 DSG2 DSP JUP PKP2
2 extracellular matrix GO:0031012 9.76 DSP JUP LMNA TGFB3
3 intermediate filament GO:0005882 9.71 DSP JUP LMNA PKP2
4 cell-cell junction GO:0005911 9.67 DSG2 DSP 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, Right Dominant Form according to GeneCards Suite gene sharing:

(show all 19)
id 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 single organismal cell-cell adhesion GO:0016337 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 skin development GO:0043588 9.58 DSP JUP
7 cardiac muscle contraction GO:0060048 9.58 RYR2 TTN
8 response to progesterone GO:0032570 9.57 DSG2 TGFB3
9 positive regulation of protein secretion GO:0050714 9.56 TGFB3 TTN
10 establishment of protein localization to plasma membrane GO:0090002 9.55 JUP PKP2
11 sarcomere organization GO:0045214 9.54 LDB3 TTN
12 adherens junction organization GO:0034332 9.52 DSP JUP
13 ventricular cardiac muscle cell action potential GO:0086005 9.51 PKP2 RYR2
14 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.5 CTNNA3 DSC2 DSG2 DSP JUP PKP2
15 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.49 PKP2 RYR2
16 cardiac muscle hypertrophy GO:0003300 9.48 RYR2 TTN
17 desmosome organization GO:0002934 9.43 DSG2 DSP
18 desmosome assembly GO:0002159 9.4 JUP PKP2
19 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, Right Dominant Form according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.58 DSP JUP LMNA
2 cell adhesion molecule binding GO:0050839 9.43 DSG2 DSP JUP
3 muscle alpha-actinin binding GO:0051371 9.37 LDB3 TTN
4 protein self-association GO:0043621 9.33 RYR2 TMEM43 TTN
5 alpha-catenin binding GO:0045294 9.32 JUP PKP2
6 protein kinase C binding GO:0005080 9.13 DSP LDB3 PKP2
7 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.1 CTNNA3 DSC2 DSG2 DSP JUP PKP2

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....