ARVD1
MCID: ARR045
MIFTS: 38

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 (ARVD1)

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 1:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 57 75 73
Arrhythmogenic Right Ventricular Dysplasia 1 57 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 1 57 12 75
Arvd1 57 12 75
Arvc1 57 12 75
Arrhythmogenic Right Ventricular Dysplasia, Familial 1 29 6
Uhl Anomaly 59 75
Arrhythmogenic Right Ventricular Cardiomyopathy 1; Arvc1 57
Dysplasia, Arrhythmogenic Right Ventricular, Type 1 ) 40
Familial Arrhythmogenic Right Ventricular Dysplasia 1 12
Cardiomyopathy Right Ventricular Dilated 75

Characteristics:

Orphanet epidemiological data:

59
uhl anomaly
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

32
arrhythmogenic right ventricular dysplasia, familial, 1:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 57 107970
Disease Ontology 12 DOID:0110070
ICD10 33 I42.8 Q24.8
Orphanet 59 ORPHA3403
MESH via Orphanet 45 C536932
UMLS via Orphanet 74 C0265857
ICD10 via Orphanet 34 Q24.8
MeSH 44 D019571
SNOMED-CT via HPO 69 263681008 95281009 44103008
UMLS 73 C1862511

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

OMIM : 57 Arrhythmogenic right ventricular dysplasia (ARVD) is a clinical and pathologic entity for which the diagnosis rests on electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. It is inherited in an autosomal dominant manner with reduced penetrance and is one of the major genetic causes of juvenile sudden death. When the dysplasia is extensive, it may represent the Uhl anomaly ('parchment right ventricle'). The presenting finding is usually recurrent, sustained ventricular tachycardia with left bundle branch block configuration. Basso et al. (2009) provided a detailed review of ARVD, including diagnosis, pathogenesis, treatment options, and genetics. (107970)

MalaCards based summary : Arrhythmogenic Right Ventricular Dysplasia, Familial, 1, also known as arrhythmogenic right ventricular dysplasia 1, is related to uhl anomaly and grover's disease. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 is TGFB3 (Transforming Growth Factor Beta 3), and among its related pathways/superpathways are Keratinization and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Affiliated tissues include heart, and related phenotypes are sudden cardiac death and ventricular arrhythmia

UniProtKB/Swiss-Prot : 75 Arrhythmogenic right ventricular dysplasia, familial, 1: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the TGFB3 gene on chromosome 14q24.

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 uhl anomaly 12.4
2 grover's disease 10.7 DSP JUP
3 epidermolysis bullosa, lethal acantholytic 10.7 DSP JUP
4 middle lobe syndrome 10.6 JUP KRT74
5 cardiomyopathy, dilated, with woolly hair and keratoderma 10.5 DSP JUP
6 woolly hair syndrome 10.5 DSP KRT74
7 arrhythmogenic right ventricular dysplasia, familial, 2 10.5 JUP RYR2
8 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.5 DSG2 DSP RYR2
9 palmoplantar keratoderma and woolly hair 10.5 DSP JUP
10 pemphigus vulgaris 10.4 DSG2 DSP JUP
11 arrhythmogenic right ventricular dysplasia, familial, 4 10.4 HMOX2 PKP2
12 pemphigus 10.4 DSG2 DSP JUP
13 ectodermal dysplasia/skin fragility syndrome 10.3 DSP JUP
14 naxos disease 10.3 DSP JUP PKP2
15 benign chronic pemphigus 10.2 DSP JUP
16 cardiac conduction defect 10.0 DSP RYR2
17 left ventricular noncompaction 9.9 DSP JUP PKP2 RYR2 TTN
18 atrial standstill 1 9.8 DSG2 DSP JUP PKP2 TTN
19 heart disease 9.7 DSP PKP2 RYR2 TGFB3 TTN
20 intrinsic cardiomyopathy 9.6 DSG2 DSP JUP PKP2 RYR2 TTN
21 dilated cardiomyopathy 9.6 DSG2 DSP JUP PKP2 RYR2 TTN
22 arrhythmogenic right ventricular dysplasia, familial, 9 9.6 DSP JUP KRT74 PKP2 RYR2 TGFB3
23 arrhythmogenic right ventricular dysplasia, familial, 8 9.5 DSP JUP KRT74 PKP2 RYR2 TGFB3
24 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.4 DSG2 DSP JUP PKP2 RYR2 TGFB3
25 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.4 DSG2 DSP JUP PKP2 RYR2 TGFB3
26 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.4 DSG2 DSP JUP PKP2 RYR2 TGFB3
27 arrhythmogenic right ventricular cardiomyopathy 9.4 DSG2 DSP JUP PKP2 RYR2 TGFB3

Graphical network of the top 20 diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 1:



Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
cardiomyopathy, right ventricular
fibrofatty replacement of right ventricular myocardium
ventricular arrhythmia (pvc, nsvt, and vt)
premature sudden cardiac death


Clinical features from OMIM:

107970

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 1:

32
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 32 HP:0001645
2 ventricular arrhythmia 32 HP:0004308
3 right ventricular cardiomyopathy 32 HP:0011663

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 CREB1 DSP HMOX2 JUP PKP2 RYR2

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 1:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Dysplasia, Familial 1 29 TGFB3

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 1:

41
Heart

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

Articles related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 1:

# Title Authors Year
1
Prenatal Diagnosis of Uhl Anomaly with Autopsy Correlation. ( 26929879 )
2016
2
Long-term follow-up of a patient with Uhl anomaly after biologic and mechanical circulatory support. ( 25749142 )
2015
3
Images in cardiovascular medicine. Fortuitous discovery of partial Uhl anomaly in a male adult. ( 20530016 )
2010
4
A case of Uhl anomaly treated with one and a half ventricle repair combined with partial right ventriculectomy in infancy. ( 11689812 )
2001
5
Pregnancy and delivery in a patient with Uhl anomaly. ( 1923232 )
1991

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TGFB3 NM_003239.4(TGFB3): c.*495C> T single nucleotide variant Pathogenic rs387906514 GRCh37 Chromosome 14, 76425035: 76425035
2 TGFB3 NM_003239.4(TGFB3): c.*495C> T single nucleotide variant Pathogenic rs387906514 GRCh38 Chromosome 14, 75958692: 75958692
3 TTN NM_001256850.1(TTN): c.40166_40168delAAG (p.Glu13389del) deletion Uncertain significance rs759525338 GRCh38 Chromosome 2, 178621733: 178621735
4 TTN NM_001256850.1(TTN): c.40166_40168delAAG (p.Glu13389del) deletion Uncertain significance rs759525338 GRCh37 Chromosome 2, 179486460: 179486462
5 RYR2 NM_001035.2(RYR2): c.4196C> A (p.Thr1399Lys) single nucleotide variant Uncertain significance rs75901196 GRCh37 Chromosome 1, 237755074: 237755074
6 RYR2 NM_001035.2(RYR2): c.4196C> A (p.Thr1399Lys) single nucleotide variant Uncertain significance rs75901196 GRCh38 Chromosome 1, 237591774: 237591774

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia, Familial, 1.

Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

Pathways related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.81 DSG2 DSP JUP KRT74 PKP2
2
Show member pathways
11.43 DSG2 DSP JUP PKP2 RYR2
3 11.08 DSP JUP RYR2

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

Cellular components related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 9.62 DSP JUP KRT74 PKP2
2 Z disc GO:0030018 9.58 JUP RYR2 TTN
3 cell-cell junction GO:0005911 9.56 DSG2 DSP JUP PKP2
4 cornified envelope GO:0001533 9.46 DSG2 DSP JUP PKP2
5 fascia adherens GO:0005916 9.37 DSP JUP
6 intercalated disc GO:0014704 9.26 DSG2 DSP JUP PKP2
7 desmosome GO:0030057 8.92 DSG2 DSP JUP PKP2

Biological processes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.73 CREB1 HMOX2 RYR2 TGFB3
2 keratinization GO:0031424 9.72 DSG2 DSP JUP KRT74 PKP2
3 cell-cell adhesion GO:0098609 9.7 DSP JUP PKP2
4 cornification GO:0070268 9.65 DSG2 DSP JUP KRT74 PKP2
5 intermediate filament cytoskeleton organization GO:0045104 9.51 DSP KRT74
6 ventricular cardiac muscle cell action potential GO:0086005 9.49 PKP2 RYR2
7 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.48 PKP2 RYR2
8 cardiac muscle hypertrophy GO:0003300 9.46 RYR2 TTN
9 regulation of heart rate by cardiac conduction GO:0086091 9.46 DSG2 DSP JUP PKP2
10 desmosome organization GO:0002934 9.4 DSG2 DSP
11 desmosome assembly GO:0002159 9.37 JUP PKP2
12 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.26 DSG2 DSP JUP PKP2
13 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.02 DSG2 DSP JUP PKP2 RYR2

Molecular functions related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 alpha-catenin binding GO:0045294 9.16 JUP PKP2
2 cell adhesion molecule binding GO:0050839 9.13 DSG2 DSP JUP
3 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.92 DSG2 DSP JUP PKP2

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

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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