ARVC4
MCID: ARR048
MIFTS: 33

Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 (ARVC4)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 57 29 73
Arrhythmogenic Right Ventricular Dysplasia 4 57 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 4 57 12
Arvd4 57 12
Arvc4 57 12
Arrhythmogenic Right Ventricular Cardiomyopathy 4; Arvc4 57
Fanilial Arrhythmogenic Right Ventricular Dysplasia 4 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
heterogeneity


HPO:

32
arrhythmogenic right ventricular dysplasia, familial, 4:
Mortality/Aging sudden death
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 602087
Disease Ontology 12 DOID:0110073
ICD10 33 I42.8
MedGen 42 C1865881
SNOMED-CT via HPO 69 263681008 26636000 44103008
UMLS 73 C1865881

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3.

MalaCards based summary : Arrhythmogenic Right Ventricular Dysplasia, Familial, 4, also known as arrhythmogenic right ventricular dysplasia 4, is related to perrault syndrome 1 and arrhythmogenic right ventricular cardiomyopathy. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 is ARVD4 (Arrhythmogenic Right Ventricular Dysplasia 4), and among its related pathways/superpathways are Statin Pathway and Angiogenesis (CST). Affiliated tissues include skin, kidney and heart, and related phenotypes are ventricular arrhythmia and focal necrosis of right ventricular muscle cells

Description from OMIM: 602087

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

Diseases in the Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 family:

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 perrault syndrome 1 11.1
2 arrhythmogenic right ventricular cardiomyopathy 10.1
3 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 PKP2 TGFB3
4 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.1 PKP2 TGFB3
5 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 PKP2 TGFB3
6 arrhythmogenic right ventricular dysplasia, familial, 9 10.1 PKP2 TGFB3
7 arrhythmogenic right ventricular dysplasia, familial, 8 10.1 PKP2 TGFB3
8 cardiomyopathy, dilated, with woolly hair and keratoderma 10.0 PKP2 TGFB3
9 carotid artery disease 9.9 LPA REN
10 hyperlipidemia, familial combined 9.9 APOC3 LPA
11 hypobetalipoproteinemia, familial, 2 9.8 APOC3 LPA
12 arteries, anomalies of 9.8 LPA REN
13 lecithin:cholesterol acyltransferase deficiency 9.8 APOC3 LPA
14 left ventricular noncompaction 9.8 PKP2 TGFB3
15 familial hyperlipidemia 9.8 APOC3 LPA
16 aortic valve disease 1 9.8 LPA REN
17 lipid metabolism disorder 9.8 APOC3 LPA
18 coronary heart disease 1 9.7 APOC3 LPA
19 heart disease 9.6 APOC3 PKP2 REN TGFB3
20 kidney disease 9.6 APOC3 LPA REN
21 myocardial infarction 9.6 APOC3 LPA REN

Graphical network of the top 20 diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 4:



Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
arrhythmogenic right ventricular cardiomyopathy
ventricular arrhythmias

Misc:
sudden death in juveniles and athletes

Lab:
focal necrosis of right ventricular muscle cells
t-wave inversion in the right precordial leads and late potentials in signal-averaging ecg
localized left ventricular involvement with left bundle branch block


Clinical features from OMIM:

602087

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 4:

32
# Description HPO Frequency HPO Source Accession
1 ventricular arrhythmia 32 HP:0004308
2 focal necrosis of right ventricular muscle cells 32 HP:0003338
3 right ventricular cardiomyopathy 32 HP:0011663
4 t-wave inversion in the right precordial leads 32 HP:0003140

GenomeRNAi Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.62 APOC3 LPA

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 4:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 29

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 4:

41
Skin, Kidney, Heart

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

Articles related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 4:

# Title Authors Year
1
Arrhythmogenic Right Ventricular Cardiomyopathy - 4 Swedish families with an associated PKP2 c.2146-1G>C variant. ( 27335691 )
2016

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4.

Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

Pathways related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.03 APOC3 LPA
2 10.57 REN TGFB3

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

Biological processes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid transport GO:0006869 8.96 APOC3 LPA
2 regulation of MAPK cascade GO:0043408 8.62 REN TGFB3

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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