ARVD1
MCID: ARR045
MIFTS: 41

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 (ARVD1)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases, Skin 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 58 76 74
Uhl Anomaly 12 77 54 60 76 45
Arrhythmogenic Right Ventricular Dysplasia 1 58 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 1 58 12 76
Arvc1 58 12 76
Arrhythmogenic Right Ventricular Dysplasia, Familial 1 30 6
Arvd1 58 76
Arrhythmogenic Right Ventricular Cardiomyopathy 1; Arvc1 58
Dysplasia, Arrhythmogenic Right Ventricular, Type 1 41
Cardiomyopathy Right Ventricular Dilated 76
Parchment Right Ventricle 54
Uhl's Anomaly 54

Characteristics:

Orphanet epidemiological data:

60
uhl anomaly
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

33
arrhythmogenic right ventricular dysplasia, familial, 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110070
OMIM 58 107970
ICD10 34 I42.8 Q24.8
MESH via Orphanet 46 C536932
ICD10 via Orphanet 35 Q24.8
UMLS via Orphanet 75 C0265857
Orphanet 60 ORPHA3403
SNOMED-CT via HPO 70 263681008 44103008 95281009
UMLS 74 C1862511

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

OMIM : 58 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 uhl anomaly, is related to cardiac arrest and arrhythmogenic right ventricular cardiomyopathy. 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 Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Apoptotic cleavage of cellular proteins. Affiliated tissues include heart and skin, and related phenotypes are sudden cardiac death and ventricular arrhythmia

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

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3403Disease definitionUhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation.Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Uhl''s anomaly was first described in 1952 by Dr. Henry Uhl (1921–2009) upon examining one of his... more...

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

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, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 cardiac arrest 30.0 DSP RYR2
2 arrhythmogenic right ventricular cardiomyopathy 28.6 DSG2 DSP RYR2 TGFB3 TTN
3 pulmonary valve insufficiency 10.2
4 cardiac arrhythmia 10.1
5 vater/vacterl association 10.1
6 orthostatic intolerance 10.1
7 single ventricular heart 10.1
8 atrioventricular block 10.1
9 portal hypertension 10.1
10 vacterl association 10.1
11 atrial heart septal defect 10.1
12 pulmonary valve stenosis 10.1
13 double discordia 10.1
14 transposition of the great arteries 10.1
15 arrhythmogenic right ventricular dysplasia, familial, 2 10.0 RYR2 TGFB3
16 cardiomyopathy, dilated, with woolly hair and keratoderma 10.0 DSP TGFB3
17 cardiac conduction defect 10.0 DSP RYR2
18 ventricular fibrillation, paroxysmal familial, 1 10.0 DSP RYR2
19 paraneoplastic pemphigus 9.9 DSG2 DSP
20 pemphigus 9.9 DSG2 DSP
21 catecholaminergic polymorphic ventricular tachycardia 9.9 DSP RYR2
22 pemphigus vulgaris 9.9 DSG2 DSP
23 long qt syndrome 1 9.8 DSP RYR2
24 arrhythmogenic right ventricular dysplasia, familial, 9 9.8 DSP RYR2 TGFB3
25 arrhythmogenic right ventricular dysplasia, familial, 8 9.8 DSP RYR2 TGFB3
26 cardiomyopathy, dilated, 1e 9.7 DSP TTN
27 familial isolated dilated cardiomyopathy 9.7 DSG2 TTN
28 tooth agenesis 9.7 DSP TGFB3
29 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.7 DSG2 DSP RYR2
30 hypertrophic cardiomyopathy 9.5 DSP RYR2 TTN
31 atrial standstill 1 9.5 DSG2 DSP TTN
32 left ventricular noncompaction 9.3 DSP RYR2 TGFB3 TTN
33 heart disease 9.3 DSP RYR2 TGFB3 TTN
34 intrinsic cardiomyopathy 9.2 DSG2 DSP RYR2 TTN
35 dilated cardiomyopathy 9.2 DSG2 DSP RYR2 TTN
36 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.0 DSG2 DSP RYR2 TGFB3 TTN
37 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.0 DSG2 DSP RYR2 TGFB3 TTN
38 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.0 DSG2 DSP RYR2 TGFB3 TTN

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

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

33
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 33 HP:0001645
2 ventricular arrhythmia 33 HP:0004308
3 right ventricular cardiomyopathy 33 HP:0011663

Symptoms via clinical synopsis from OMIM:

58
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

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.26 DSP RYR2 TGFB3 TTN
2 mortality/aging MP:0010768 9.02 DSG2 DSP RYR2 TGFB3 TTN

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

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

Cochrane evidence based reviews: uhl anomaly

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 30 TGFB3

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

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

42
Heart, Skin

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

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

# Title Authors Year
1
Uhl Anomaly in Asymptomatic Adult Woman. ( 30700135 )
2019
2
Prenatal Diagnosis of Uhl Anomaly with Autopsy Correlation. ( 26929879 )
2016
3
Long-term follow-up of a patient with Uhl anomaly after biologic and mechanical circulatory support. ( 25749142 )
2015
4
Images in cardiovascular medicine. Fortuitous discovery of partial Uhl anomaly in a male adult. ( 20530016 )
2010
5
Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. ( 15639475 )
2005
6
Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1): confirmation of locus assignment and mutation screening of four candidate genes. ( 12529708 )
2003
7
A case of Uhl anomaly treated with one and a half ventricle repair combined with partial right ventriculectomy in infancy. ( 11689812 )
2001
8
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 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 DSG2 NM_001943.4(DSG2): c.473T> G (p.Val158Gly) single nucleotide variant Benign/Likely benign rs191143292 GRCh38 Chromosome 18, 31521193: 31521193
2 DSG2 NM_001943.4(DSG2): c.473T> G (p.Val158Gly) single nucleotide variant Benign/Likely benign rs191143292 GRCh37 Chromosome 18, 29101156: 29101156
3 TGFB3 NM_003239.4(TGFB3): c.*495C> T single nucleotide variant Pathogenic rs387906514 GRCh38 Chromosome 14, 75958692: 75958692
4 TGFB3 NM_003239.4(TGFB3): c.*495C> T single nucleotide variant Pathogenic rs387906514 GRCh37 Chromosome 14, 76425035: 76425035
5 TGFB3 NM_003239.4(TGFB3): c.-30G> A single nucleotide variant Uncertain significance rs770828281 GRCh37 Chromosome 14, 76447266: 76447266
6 TGFB3 NM_003239.4(TGFB3): c.-30G> A single nucleotide variant Uncertain significance rs770828281 GRCh38 Chromosome 14, 75980923: 75980923
7 TGFB3 NM_003239.4(TGFB3): c.965T> C (p.Ile322Thr) single nucleotide variant Uncertain significance rs762643638 GRCh37 Chromosome 14, 76427381: 76427381
8 TGFB3 NM_003239.4(TGFB3): c.965T> C (p.Ile322Thr) single nucleotide variant Uncertain significance rs762643638 GRCh38 Chromosome 14, 75961038: 75961038
9 RYR2 NM_001035.2(RYR2): c.4196C> A (p.Thr1399Lys) single nucleotide variant Uncertain significance rs75901196 GRCh38 Chromosome 1, 237591774: 237591774
10 RYR2 NM_001035.2(RYR2): c.4196C> A (p.Thr1399Lys) single nucleotide variant Uncertain significance rs75901196 GRCh37 Chromosome 1, 237755074: 237755074
11 TTN NM_001256850.1(TTN): c.40166_40168delAAG (p.Glu13389del) deletion Uncertain significance rs759525338 GRCh37 Chromosome 2, 179486460: 179486462
12 TTN NM_001256850.1(TTN): c.40166_40168delAAG (p.Glu13389del) deletion Uncertain significance rs759525338 GRCh38 Chromosome 2, 178621733: 178621735

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
11.54 DSG2 DSP RYR2
2
Show member pathways
11.32 DSG2 DSP
3
Show member pathways
11.04 RYR2 TGFB3 TTN
4 10.9 DSP 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 cell-cell junction GO:0005911 9.37 DSG2 DSP
2 Z disc GO:0030018 9.32 RYR2 TTN
3 cornified envelope GO:0001533 9.26 DSG2 DSP
4 sarcomere GO:0030017 9.16 RYR2 TTN
5 intercalated disc GO:0014704 8.96 DSG2 DSP
6 desmosome GO:0030057 8.62 DSG2 DSP

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.51 RYR2 TGFB3
2 platelet degranulation GO:0002576 9.49 TGFB3 TTN
3 cornification GO:0070268 9.48 DSG2 DSP
4 wound healing GO:0042060 9.46 DSP TGFB3
5 cardiac muscle contraction GO:0060048 9.43 RYR2 TTN
6 positive regulation of protein secretion GO:0050714 9.4 TGFB3 TTN
7 regulation of heart rate by cardiac conduction GO:0086091 9.37 DSG2 DSP
8 response to progesterone GO:0032570 9.32 DSG2 TGFB3
9 cardiac muscle hypertrophy GO:0003300 9.26 RYR2 TTN
10 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.16 DSG2 DSP
11 desmosome organization GO:0002934 8.96 DSG2 DSP
12 regulation of ventricular cardiac muscle cell action potential GO:0098911 8.8 DSG2 DSP 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 calcium ion binding GO:0005509 9.43 DSG2 RYR2 TTN
2 cell adhesion molecule binding GO:0050839 9.16 DSG2 DSP
3 protein self-association GO:0043621 8.96 RYR2 TTN
4 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.62 DSG2 DSP

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

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
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