MCID: FML214
MIFTS: 24

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form malady

Categories: Rare diseases, Cardiovascular diseases, Genetic diseases

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

Aliases & Descriptions for Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form:

Name: Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 56
Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Biventricular Form 56

Classifications:



External Ids:

Orphanet 56 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 cardiomyopathy, dilated, 1a and leukodystrophy, hypomyelinating, 2. An important gene associated with Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form is TGFB3 (Transforming Growth Factor Beta 3), and among its related pathways/superpathways are Keratinization and Endometrial cancer. 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 38)
id Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1a 10.2 LMNA TMEM43
2 leukodystrophy, hypomyelinating, 2 10.2 JUP RYR2
3 spastic paraplegia 47, autosomal recessive 10.2 DSG2 RYR2
4 bleeding disorder, platelet-type, 15 10.1 DSG2 RYR2
5 arrhythmogenic right ventricular dysplasia 2 10.1 DSG2 RYR2
6 branchiooculofacial syndrome 10.1 DSP JUP
7 lipodystrophy, familial partial, 2 10.1 LDB3 LMNA
8 skin fragility-woolly hair syndrome 10.1 DSP JUP
9 gupta patton syndrome 10.1 DSP JUP
10 chromosome 15q11-q13 duplication syndrome 10.0 DSP JUP
11 myopathy, early-onset, with fatal cardiomyopathy 10.0 LDB3 TTN
12 peripheral t-cell lymphoma 10.0 DSG2 DSP
13 mosaic trisomy 1 9.9 DSG2 DSP LMNA
14 retinitis pigmentosa 18 9.9 DSG2 DSP LMNA
15 autoimmune thyroid disease 2 9.9 LDB3 TTN
16 pol iii-related leukodystrophies 9.9 DSG2 DSP JUP
17 pompholyx 9.9 DSG2 DSP JUP
18 codas syndrome 9.9 DSC2 DSP JUP
19 choanal atresia and lymphedema 9.9 DSC2 DSP JUP
20 celiac disease 2 9.9 LDB3 TTN
21 lipoma 9.9 DSC2 DSP JUP
22 sed, maroteaux type 9.9 DSC2 DSP JUP
23 folinic acid-responsive seizures 9.8 DSC2 DSG2 DSP
24 nonsyndromic hearing loss and deafness, mitochondrial 9.8 LDB3 TTN
25 myelofibrosis 9.8 RYR2 TTN
26 primary cutaneous gamma/delta-positive t-cell lymphoma 9.8 DSG2 LDB3 TTN
27 pallister-killian syndrome 9.8 DSP JUP PKP2 RYR2 TGFB3
28 ventricular tachycardia, catecholaminergic polymorphic, 4 9.8 DSP JUP PKP2 RYR2 TGFB3
29 klippel-feil syndrome 2 9.8 DSC2 DSP JUP PKP2
30 pollen allergy 9.8 LDB3 LMNA RYR2 TTN
31 epidermolysis bullosa, lethal acantholytic 9.7 DSP JUP PKP2 RYR2 TGFB3 TMEM43
32 emery-dreifuss muscular dystrophy, dominant type 9.2 DSG2 DSP JUP LDB3 LMNA RYR2
33 pervasive developmental disorder 8.9 DSC2 DSG2 DSP JUP LMNA PKP2
34 cdkl5-related angelman-like syndrome 8.6 DSC2 DSG2 DSP JUP LDB3 LMNA
35 familial partial lipodystrophy 8.5 CTNNA3 DSC2 DSG2 DSP JUP LDB3
36 fibular hemimelia, bilateral 8.5 CTNNA3 DSC2 DSG2 DSP JUP LDB3
37 fibular hemimelia, unilateral 8.5 CTNNA3 DSC2 DSG2 DSP JUP LDB3
38 congenital absence of upper arm and forearm with hand present, bilateral 8.5 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 LDB3 LMNA PKP2 RYR2 TGFB3 TTN
2 mortality/aging MP:0010768 9.65 LDB3 LMNA PKP2 RYR2 TGFB3 TTN
3 muscle MP:0005369 9.23 LDB3 LMNA PKP2 RYR2 TTN CTNNA3

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:

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, Biventricular 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 establishment of protein localization to plasma membrane GO:0090002 9.56 JUP PKP2
10 positive regulation of protein secretion GO:0050714 9.55 TGFB3 TTN
11 adherens junction organization GO:0034332 9.54 DSP JUP
12 sarcomere organization GO:0045214 9.52 LDB3 TTN
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, Biventricular 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
8 protein binding GO:0005515 10.17 CTNNA3 DSC2 DSP JUP LDB3 LMNA

Sources for Familial Isolated Arrhythmogenic Ventricular Dysplasia,...

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....