ARVC3
MCID: ARR047
MIFTS: 19

Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 (ARVC3)

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

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 58 30 74
Arrhythmogenic Right Ventricular Dysplasia 3 58 12 13
Arrhythmogenic Right Ventricular Cardiomyopathy 3 58 12
Arvd3 58 12
Arvc3 58 12
Arrhythmogenic Right Ventricular Cardiomyopathy 3; Arvc3 58
Familial Arrhythmogenic Right Ventricular Dysplasia 3 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
heterogeneity


HPO:

33
arrhythmogenic right ventricular dysplasia, familial, 3:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110072
OMIM 58 602086
ICD10 34 I42.8
MedGen 43 C1865882
SNOMED-CT via HPO 70 263681008 44103008
UMLS 74 C1865882

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22.

MalaCards based summary : Arrhythmogenic Right Ventricular Dysplasia, Familial, 3, also known as arrhythmogenic right ventricular dysplasia 3, is related to perrault syndrome 1. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 is ARVD3 (Arrhythmogenic Right Ventricular Dysplasia 3). Related phenotypes are ventricular arrhythmia and focal necrosis of right ventricular muscle cells

Description from OMIM: 602086

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 3:

33
# Description HPO Frequency HPO Source Accession
1 ventricular arrhythmia 33 HP:0004308
2 focal necrosis of right ventricular muscle cells 33 HP:0003338
3 right ventricular cardiomyopathy 33 HP:0011663
4 t-wave inversion in the right precordial leads 33 HP:0003140

Symptoms via clinical synopsis from OMIM:

58
Cardiac:
arrhythmogenic right ventricular cardiomyopathy
ventricular arrhythmias

Lab:
focal necrosis of right ventricular muscle cells
t-wave inversion in the right precordial leads and late potentials in signal-averaging ecg

Clinical features from OMIM:

602086

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 3:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 30

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3.

Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....