ARVD5
MCID: ARR018
MIFTS: 41

Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 (ARVD5)

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

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 58 76 74
Arrhythmogenic Right Ventricular Dysplasia 5 58 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 5 58 12 76
Arvd5 58 12 76
Arvc5 58 12 76
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 5 30 6
Arrhythmogenic Right Ventricular Cardiomyopathy 5; Arvc5 58
Familial Arrhythmogenic Right Ventricular Dysplasia 5 12
Dysplasia, Ventricular, Right, Arrhythmogenic, Type 5 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
sudden cardiac death frequent in affected families
male patients have more severe disease than female patients


HPO:

33
arrhythmogenic right ventricular dysplasia, familial, 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110074
OMIM 58 604400
MeSH 45 D019571
ICD10 34 I42.8
MedGen 43 C1858379
UMLS 74 C1858379

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

UniProtKB/Swiss-Prot : 76 Arrhythmogenic right ventricular dysplasia, familial, 5: 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.

MalaCards based summary : Arrhythmogenic Right Ventricular Dysplasia, Familial, 5, also known as arrhythmogenic right ventricular dysplasia 5, is related to arrhythmogenic right ventricular cardiomyopathy and heart septal defect. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 is TMEM43 (Transmembrane Protein 43), and among its related pathways/superpathways are TGF-beta Signaling Pathways and Regulation of nuclear SMAD2/3 signaling. Affiliated tissues include heart and skin, and related phenotypes are sudden cardiac death and dyskinesia

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the TMEM43 gene on chromosome 3p25.

Description from OMIM: 604400

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 arrhythmogenic right ventricular cardiomyopathy 29.1 CDH2 PPARG SCN5A TMEM43
2 heart septal defect 10.0 MEF2C NKX2-5
3 familial progressive cardiac conduction defect 9.9 NKX2-5 SCN5A
4 ventricular fibrillation, paroxysmal familial, 1 9.9 NKX2-5 SCN5A
5 intrinsic cardiomyopathy 9.9 SCN5A TMEM43
6 atrioventricular block 9.8 NKX2-5 SCN5A
7 double outlet right ventricle 9.7 MEF2C NKX2-5
8 left ventricular noncompaction 9.7 NKX2-5 SCN5A XIRP1
9 hypoplastic left heart syndrome 9.6 CDH2 NKX2-5
10 dilated cardiomyopathy 9.2 CDH2 NKX2-5 SCN5A TMEM43
11 cardiomyopathy, dilated, 1e 9.0 CDH2 MEF2C NKX2-5 SCN5A XIRP1

Graphical network of the top 20 diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:



Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 33 HP:0001645
2 dyskinesia 33 HP:0100660
3 congestive heart failure 33 HP:0001635
4 chest pain 33 HP:0100749
5 ventricular tachycardia 33 HP:0004756
6 ventricular extrasystoles 33 HP:0006682
7 palpitations 33 HP:0001962
8 prolonged qrs complex 33 HP:0006677
9 right ventricular cardiomyopathy 33 HP:0011663
10 presyncope 33 HP:0031972

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
palpitations
premature ventricular contractions
bigeminy
left ventricular enlargement
presyncope or syncope
more

Clinical features from OMIM:

604400

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.73 CDH2 MEF2C NKX2-5 PPARG SCN5A XIRP1
2 embryo MP:0005380 9.55 CDH2 MEF2C NKX2-5 PPARG SCN5A
3 growth/size/body region MP:0005378 9.43 CDH2 MEF2C NKX2-5 PPARG SCN5A XIRP1
4 muscle MP:0005369 9.1 CDH2 MEF2C NKX2-5 PPARG SCN5A XIRP1

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Cardiomyopathy, Type 5 30 TMEM43

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:

42
Heart, Skin

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Articles related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:

# Title Authors Year
1
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
2
Failure of ICD therapy in lethal arrhythmogenic right ventricular cardiomyopathy type 5 caused by the TMEM43 p.Ser358Leu mutation. ( 28491673 )
2016
3
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
4
TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations. ( 23812740 )
2013
5
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
6
Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy. ( 21214875 )
2011
7
Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. ( 18313022 )
2008

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

UniProtKB/Swiss-Prot genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:

76
# Symbol AA change Variation ID SNP ID
1 TMEM43 p.Ser358Leu VAR_044438 rs63750743

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:

6 (show top 50) (show all 198)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM43 NM_024334.2(TMEM43): c.1073C> T (p.Ser358Leu) single nucleotide variant Pathogenic rs63750743 GRCh37 Chromosome 3, 14183165: 14183165
2 TMEM43 NM_024334.2(TMEM43): c.1073C> T (p.Ser358Leu) single nucleotide variant Pathogenic rs63750743 GRCh38 Chromosome 3, 14141665: 14141665
3 TMEM43 NM_024334.2(TMEM43): c.1150C> G (p.Leu384Val) single nucleotide variant Uncertain significance rs193922706 GRCh37 Chromosome 3, 14183242: 14183242
4 TMEM43 NM_024334.2(TMEM43): c.1150C> G (p.Leu384Val) single nucleotide variant Uncertain significance rs193922706 GRCh38 Chromosome 3, 14141742: 14141742
5 TMEM43 NM_024334.2(TMEM43): c.797G> A (p.Arg266Gln) single nucleotide variant Uncertain significance rs193922707 GRCh37 Chromosome 3, 14177323: 14177323
6 TMEM43 NM_024334.2(TMEM43): c.797G> A (p.Arg266Gln) single nucleotide variant Uncertain significance rs193922707 GRCh38 Chromosome 3, 14135823: 14135823
7 TMEM43 NM_024334.2(TMEM43): c.934C> T (p.Arg312Trp) single nucleotide variant Benign/Likely benign rs113449357 GRCh37 Chromosome 3, 14180731: 14180731
8 TMEM43 NM_024334.2(TMEM43): c.934C> T (p.Arg312Trp) single nucleotide variant Benign/Likely benign rs113449357 GRCh38 Chromosome 3, 14139231: 14139231
9 TMEM43 NM_024334.2(TMEM43): c.271A> G (p.Ile91Val) single nucleotide variant Uncertain significance rs144811578 GRCh37 Chromosome 3, 14172430: 14172430
10 TMEM43 NM_024334.2(TMEM43): c.271A> G (p.Ile91Val) single nucleotide variant Uncertain significance rs144811578 GRCh38 Chromosome 3, 14130930: 14130930
11 TMEM43 NM_024334.2(TMEM43): c.1096G> A (p.Ala366Thr) single nucleotide variant Benign rs36083134 GRCh37 Chromosome 3, 14183188: 14183188
12 TMEM43 NM_024334.2(TMEM43): c.1096G> A (p.Ala366Thr) single nucleotide variant Benign rs36083134 GRCh38 Chromosome 3, 14141688: 14141688
13 TMEM43 NM_024334.2(TMEM43): c.1105C> T (p.Leu369Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs144152046 GRCh37 Chromosome 3, 14183197: 14183197
14 TMEM43 NM_024334.2(TMEM43): c.1105C> T (p.Leu369Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs144152046 GRCh38 Chromosome 3, 14141697: 14141697
15 TMEM43 NM_024334.2(TMEM43): c.1111T> C (p.Tyr371His) single nucleotide variant Conflicting interpretations of pathogenicity rs116911972 GRCh37 Chromosome 3, 14183203: 14183203
16 TMEM43 NM_024334.2(TMEM43): c.1111T> C (p.Tyr371His) single nucleotide variant Conflicting interpretations of pathogenicity rs116911972 GRCh38 Chromosome 3, 14141703: 14141703
17 TMEM43 NM_024334.2(TMEM43): c.222C> T (p.Pro74=) single nucleotide variant Conflicting interpretations of pathogenicity rs34099410 GRCh37 Chromosome 3, 14172381: 14172381
18 TMEM43 NM_024334.2(TMEM43): c.222C> T (p.Pro74=) single nucleotide variant Conflicting interpretations of pathogenicity rs34099410 GRCh38 Chromosome 3, 14130881: 14130881
19 TMEM43 NM_024334.2(TMEM43): c.361A> G (p.Met121Val) single nucleotide variant Uncertain significance rs369878538 GRCh37 Chromosome 3, 14173143: 14173143
20 TMEM43 NM_024334.2(TMEM43): c.361A> G (p.Met121Val) single nucleotide variant Uncertain significance rs369878538 GRCh38 Chromosome 3, 14131643: 14131643
21 TMEM43 NM_024334.2(TMEM43): c.424G> A (p.Glu142Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs145619906 GRCh37 Chromosome 3, 14174077: 14174077
22 TMEM43 NM_024334.2(TMEM43): c.424G> A (p.Glu142Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs145619906 GRCh38 Chromosome 3, 14132577: 14132577
23 TMEM43 NM_024334.2(TMEM43): c.705+7G> A single nucleotide variant Benign/Likely benign rs201916031 GRCh37 Chromosome 3, 14176398: 14176398
24 TMEM43 NM_024334.2(TMEM43): c.705+7G> A single nucleotide variant Benign/Likely benign rs201916031 GRCh38 Chromosome 3, 14134898: 14134898
25 TMEM43 NM_024334.2(TMEM43): c.82C> T (p.Arg28Trp) single nucleotide variant Benign/Likely benign rs35028636 GRCh37 Chromosome 3, 14170981: 14170981
26 TMEM43 NM_024334.2(TMEM43): c.82C> T (p.Arg28Trp) single nucleotide variant Benign/Likely benign rs35028636 GRCh38 Chromosome 3, 14129481: 14129481
27 TMEM43 NM_024334.2(TMEM43): c.909C> T (p.Ser303=) single nucleotide variant Benign/Likely benign rs35100587 GRCh37 Chromosome 3, 14180706: 14180706
28 TMEM43 NM_024334.2(TMEM43): c.909C> T (p.Ser303=) single nucleotide variant Benign/Likely benign rs35100587 GRCh38 Chromosome 3, 14139206: 14139206
29 TMEM43 NM_024334.2(TMEM43): c.947G> C (p.Trp316Ser) single nucleotide variant Uncertain significance rs199526104 GRCh37 Chromosome 3, 14180744: 14180744
30 TMEM43 NM_024334.2(TMEM43): c.947G> C (p.Trp316Ser) single nucleotide variant Uncertain significance rs199526104 GRCh38 Chromosome 3, 14139244: 14139244
31 TMEM43 NM_024334.2(TMEM43): c.953C> T (p.Ala318Val) single nucleotide variant Conflicting interpretations of pathogenicity rs11924644 GRCh37 Chromosome 3, 14180750: 14180750
32 TMEM43 NM_024334.2(TMEM43): c.953C> T (p.Ala318Val) single nucleotide variant Conflicting interpretations of pathogenicity rs11924644 GRCh38 Chromosome 3, 14139250: 14139250
33 TMEM43 NM_024334.2(TMEM43): c.169G> A (p.Ala57Thr) single nucleotide variant Uncertain significance rs151010429 GRCh37 Chromosome 3, 14172328: 14172328
34 TMEM43 NM_024334.2(TMEM43): c.169G> A (p.Ala57Thr) single nucleotide variant Uncertain significance rs151010429 GRCh38 Chromosome 3, 14130828: 14130828
35 TMEM43 NM_024334.2(TMEM43): c.45C> A (p.Val15=) single nucleotide variant Benign/Likely benign rs150334659 GRCh38 Chromosome 3, 14129444: 14129444
36 TMEM43 NM_024334.2(TMEM43): c.45C> A (p.Val15=) single nucleotide variant Benign/Likely benign rs150334659 GRCh37 Chromosome 3, 14170944: 14170944
37 TMEM43 NM_024334.2(TMEM43): c.163-3delC deletion Conflicting interpretations of pathogenicity rs371706980 GRCh38 Chromosome 3, 14130819: 14130819
38 TMEM43 NM_024334.2(TMEM43): c.163-3delC deletion Conflicting interpretations of pathogenicity rs371706980 GRCh37 Chromosome 3, 14172319: 14172319
39 TMEM43 NM_024334.2(TMEM43): c.442+7G> A single nucleotide variant Likely benign rs373590238 GRCh38 Chromosome 3, 14132602: 14132602
40 TMEM43 NM_024334.2(TMEM43): c.442+7G> A single nucleotide variant Likely benign rs373590238 GRCh37 Chromosome 3, 14174102: 14174102
41 TMEM43 NM_024334.2(TMEM43): c.698A> G (p.Tyr233Cys) single nucleotide variant Benign/Likely benign rs35924492 GRCh38 Chromosome 3, 14134884: 14134884
42 TMEM43 NM_024334.2(TMEM43): c.698A> G (p.Tyr233Cys) single nucleotide variant Benign/Likely benign rs35924492 GRCh37 Chromosome 3, 14176384: 14176384
43 TMEM43 NM_024334.2(TMEM43): c.1095G> A (p.Ala365=) single nucleotide variant Likely benign rs141675061 GRCh37 Chromosome 3, 14183187: 14183187
44 TMEM43 NM_024334.2(TMEM43): c.1095G> A (p.Ala365=) single nucleotide variant Likely benign rs141675061 GRCh38 Chromosome 3, 14141687: 14141687
45 TMEM43 NM_024334.2(TMEM43): c.280G> A (p.Ala94Thr) single nucleotide variant Uncertain significance rs369142200 GRCh38 Chromosome 3, 14130939: 14130939
46 TMEM43 NM_024334.2(TMEM43): c.280G> A (p.Ala94Thr) single nucleotide variant Uncertain significance rs369142200 GRCh37 Chromosome 3, 14172439: 14172439
47 TMEM43 NM_024334.2(TMEM43): c.428C> T (p.Thr143Met) single nucleotide variant Uncertain significance rs544554435 GRCh38 Chromosome 3, 14132581: 14132581
48 TMEM43 NM_024334.2(TMEM43): c.428C> T (p.Thr143Met) single nucleotide variant Uncertain significance rs544554435 GRCh37 Chromosome 3, 14174081: 14174081
49 TMEM43 NM_024334.2(TMEM43): c.484G> A (p.Asp162Asn) single nucleotide variant Uncertain significance rs150425166 GRCh38 Chromosome 3, 14132907: 14132907
50 TMEM43 NM_024334.2(TMEM43): c.484G> A (p.Asp162Asn) single nucleotide variant Uncertain significance rs150425166 GRCh37 Chromosome 3, 14174407: 14174407

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5.

Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Pathways related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.39 MEF2C PPARG
2 11.25 MEF2C NKX2-5
3 11.07 MEF2C PPARG
4 10.92 MEF2C NKX2-5
5 10.52 MEF2C NKX2-5 SCN5A
6 10.5 MEF2C NKX2-5
7 10.07 MEF2C NKX2-5

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Cellular components related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 9.16 CDH2 SCN5A
2 RNA polymerase II transcription factor complex GO:0090575 8.96 NKX2-5 PPARG
3 intercalated disc GO:0014704 8.62 CDH2 SCN5A

Biological processes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of neuron differentiation GO:0045666 9.57 MEF2C NKX2-5
2 cellular response to calcium ion GO:0071277 9.56 MEF2C SCN5A
3 cell fate commitment GO:0045165 9.55 MEF2C PPARG
4 heart looping GO:0001947 9.54 MEF2C NKX2-5
5 outflow tract morphogenesis GO:0003151 9.52 MEF2C NKX2-5
6 cardiac muscle contraction GO:0060048 9.51 NKX2-5 SCN5A
7 negative regulation of blood vessel endothelial cell migration GO:0043537 9.49 MEF2C PPARG
8 negative regulation of vascular smooth muscle cell proliferation GO:1904706 9.48 MEF2C PPARG
9 telencephalon development GO:0021537 9.46 CDH2 SCN5A
10 regulation of synaptic transmission, glutamatergic GO:0051966 9.43 CDH2 MEF2C
11 negative regulation of vascular endothelial cell proliferation GO:1905563 9.4 MEF2C PPARG
12 positive regulation of muscle cell differentiation GO:0051149 9.37 CDH2 MEF2C
13 cardiac muscle cell differentiation GO:0055007 9.32 MEF2C NKX2-5
14 monocyte differentiation GO:0030224 9.26 MEF2C PPARG
15 positive regulation of sodium ion transport GO:0010765 9.16 NKX2-5 SCN5A
16 cardiac ventricle formation GO:0003211 8.96 MEF2C NKX2-5
17 heart development GO:0007507 8.92 MEF2C NKX2-5 PPARG XIRP1

Molecular functions related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.58 MEF2C NKX2-5 PPARG
2 chromatin binding GO:0003682 9.5 MEF2C NKX2-5 PPARG
3 enzyme binding GO:0019899 9.43 CDH2 PPARG SCN5A
4 protein phosphatase binding GO:0019903 9.37 CDH2 PPARG
5 protein self-association GO:0043621 9.16 PPARG TMEM43
6 activating transcription factor binding GO:0033613 8.96 MEF2C PPARG
7 transcription regulatory region DNA binding GO:0044212 8.8 MEF2C NKX2-5 PPARG

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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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