MCID: ARR047
MIFTS: 15

Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Categories: Cardiovascular diseases, Genetic 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 57 29 73
Arrhythmogenic Right Ventricular Dysplasia 3 57 12 13
Arrhythmogenic Right Ventricular Cardiomyopathy 3 57 12
Arvd3 57 12
Arvc3 57 12
Arrhythmogenic Right Ventricular Cardiomyopathy 3; Arvc3 57
Familial Arrhythmogenic Right Ventricular Dysplasia 3 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
heterogeneity


HPO:

32
arrhythmogenic right ventricular dysplasia, familial, 3:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 57 602086
Disease Ontology 12 DOID:0110072
ICD10 33 I42.8
MedGen 42 C1865882
SNOMED-CT via HPO 69 263681008 44103008
UMLS 73 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, is also known as arrhythmogenic right ventricular dysplasia 3. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 is ARVD3 (Arrhythmogenic Right Ventricular Dysplasia 3). Related phenotypes are t-wave inversion in the right precordial leads 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

Symptoms via clinical synopsis from OMIM:

57
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

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

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

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 29

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 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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