ARVD1
MCID: ARR045
MIFTS: 43

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 57 75 73
Uhl Anomaly 12 76 53 59 75 44
Arrhythmogenic Right Ventricular Dysplasia 1 57 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 1 57 12 75
Arvc1 57 12 75
Arrhythmogenic Right Ventricular Dysplasia, Familial 1 29 6
Arvd1 57 75
Arrhythmogenic Right Ventricular Cardiomyopathy 1; Arvc1 57
Dysplasia, Arrhythmogenic Right Ventricular, Type 1 ) 40
Cardiomyopathy Right Ventricular Dilated 75
Parchment Right Ventricle 53
Uhl's Anomaly 53

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 heterogeneous autosomal dominant inheritance


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
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 uhl anomaly, is related to arrhythmogenic right ventricular cardiomyopathy and cardiac conduction defect. 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 Dilated cardiomyopathy (DCM). 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 : 53 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 : 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.

Wikipedia : 76 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 34)
# Related Disease Score Top Affiliating Genes
1 arrhythmogenic right ventricular cardiomyopathy 29.0 DSP DSG2 TTN TGFB3 RYR2 JUP
2 cardiac conduction defect 10.0 RYR2 DSP
3 ventricular fibrillation, paroxysmal familial, 1 10.0 RYR2 DSP
4 paraneoplastic pemphigus 10.0 DSP DSG2
5 familial isolated dilated cardiomyopathy 9.9 TTN DSG2
6 catecholaminergic polymorphic ventricular tachycardia 9.9 RYR2 DSG2
7 grover's disease 9.9 JUP DSP
8 epidermolysis bullosa, lethal acantholytic 9.9 JUP DSP
9 palmoplantar keratoderma and woolly hair 9.9 JUP DSP
10 naxos disease 9.9 JUP DSP
11 ectodermal dysplasia/skin fragility syndrome 9.9 JUP DSP
12 benign chronic pemphigus 9.9 JUP DSP
13 long qt syndrome 1 9.9 RYR2 DSP
14 cardiomyopathy, dilated, 1e 9.9 TTN DSP
15 darier-white disease 9.9 JUP DSP
16 cardiac arrhythmia 9.9 RYR2 JUP
17 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.9 RYR2 DSP DSG2
18 palmoplantar keratosis 9.8 JUP DSP
19 cardiac arrest 9.8 RYR2 DSP
20 hypertrophic cardiomyopathy 9.8 TTN RYR2 DSP
21 arrhythmogenic right ventricular dysplasia, familial, 2 9.8 TGFB3 RYR2 JUP
22 cardiomyopathy, dilated, with woolly hair and keratoderma 9.8 TGFB3 JUP DSP
23 pemphigus vulgaris 9.7 JUP DSP DSG2
24 pemphigus 9.7 JUP DSP DSG2
25 heart disease 9.7 TTN TGFB3 RYR2 DSP
26 arrhythmogenic right ventricular dysplasia, familial, 9 9.6 TGFB3 RYR2 JUP DSP
27 arrhythmogenic right ventricular dysplasia, familial, 8 9.6 TGFB3 RYR2 JUP DSP
28 atrial standstill 1 9.5 TTN JUP DSP DSG2
29 left ventricular noncompaction 9.4 TTN TGFB3 RYR2 JUP DSP
30 intrinsic cardiomyopathy 9.3 TTN RYR2 JUP DSP DSG2
31 dilated cardiomyopathy 9.3 TTN RYR2 JUP DSP DSG2
32 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.2 TTN TGFB3 RYR2 JUP DSP DSG2
33 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.2 TTN TGFB3 RYR2 JUP DSP DSG2
34 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.2 TTN TGFB3 RYR2 JUP DSP DSG2

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 cardiovascular system MP:0005385 9.72 DSP JUP RYR2 TGFB3 TTN
2 cellular MP:0005384 9.65 DSG2 DSP JUP TGFB3 TTN
3 embryo MP:0005380 9.55 DSP JUP RYR2 TGFB3 TTN
4 mortality/aging MP:0010768 9.43 DSG2 DSP JUP RYR2 TGFB3 TTN
5 muscle MP:0005369 8.92 DSP JUP RYR2 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 29 TGFB3

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

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

41
Heart, Skin

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 RYR2 NM_001035.2(RYR2): c.4196C> A (p.Thr1399Lys) single nucleotide variant Uncertain significance rs75901196 GRCh38 Chromosome 1, 237591774: 237591774
2 RYR2 NM_001035.2(RYR2): c.4196C> A (p.Thr1399Lys) single nucleotide variant Uncertain significance rs75901196 GRCh37 Chromosome 1, 237755074: 237755074
3 TTN NM_001256850.1(TTN): c.40166_40168delAAG (p.Glu13389del) deletion Uncertain significance rs759525338 GRCh37 Chromosome 2, 179486460: 179486462
4 TTN NM_001256850.1(TTN): c.40166_40168delAAG (p.Glu13389del) deletion Uncertain significance rs759525338 GRCh38 Chromosome 2, 178621733: 178621735
5 DSG2 NM_001943.4(DSG2): c.473T> G (p.Val158Gly) single nucleotide variant Benign/Likely benign rs191143292 GRCh38 Chromosome 18, 31521193: 31521193
6 DSG2 NM_001943.4(DSG2): c.473T> G (p.Val158Gly) single nucleotide variant Benign/Likely benign rs191143292 GRCh37 Chromosome 18, 29101156: 29101156
7 TGFB3 NM_003239.4(TGFB3): c.*495C> T single nucleotide variant Pathogenic rs387906514 GRCh38 Chromosome 14, 75958692: 75958692
8 TGFB3 NM_003239.4(TGFB3): c.*495C> T single nucleotide variant Pathogenic rs387906514 GRCh37 Chromosome 14, 76425035: 76425035
9 TGFB3 NM_003239.4(TGFB3): c.-30G> A single nucleotide variant Uncertain significance rs770828281 GRCh37 Chromosome 14, 76447266: 76447266
10 TGFB3 NM_003239.4(TGFB3): c.-30G> A single nucleotide variant Uncertain significance rs770828281 GRCh38 Chromosome 14, 75980923: 75980923

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

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 9.54 DSG2 DSP JUP
2 Z disc GO:0030018 9.5 JUP RYR2 TTN
3 sarcomere GO:0030017 9.43 RYR2 TTN
4 lateral plasma membrane GO:0016328 9.4 DSG2 JUP
5 cornified envelope GO:0001533 9.33 DSG2 DSP JUP
6 fascia adherens GO:0005916 9.26 DSP JUP
7 intercalated disc GO:0014704 9.13 DSG2 DSP JUP
8 desmosome GO:0030057 8.8 DSG2 DSP JUP

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.58 DSG2 DSP JUP
2 platelet degranulation GO:0002576 9.54 TGFB3 TTN
3 wound healing GO:0042060 9.52 DSP TGFB3
4 cardiac muscle contraction GO:0060048 9.51 RYR2 TTN
5 cornification GO:0070268 9.5 DSG2 DSP JUP
6 skin development GO:0043588 9.49 DSP JUP
7 adherens junction organization GO:0034332 9.48 DSP JUP
8 positive regulation of protein secretion GO:0050714 9.46 TGFB3 TTN
9 response to progesterone GO:0032570 9.43 DSG2 TGFB3
10 cardiac muscle hypertrophy GO:0003300 9.37 RYR2 TTN
11 regulation of heart rate by cardiac conduction GO:0086091 9.33 DSG2 DSP JUP
12 desmosome organization GO:0002934 9.26 DSG2 DSP
13 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.13 DSG2 DSP JUP
14 regulation of ventricular cardiac muscle cell action potential GO:0098911 8.92 DSG2 DSP JUP 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 protein kinase binding GO:0019901 9.43 JUP RYR2 TTN
2 protein self-association GO:0043621 9.16 RYR2 TTN
3 cell adhesion molecule binding GO:0050839 9.13 DSG2 DSP JUP
4 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.8 DSG2 DSP JUP

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
Content
Loading form....