ARVD10
MCID: ARR028
MIFTS: 23

Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 (ARVD10)

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

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 58 76 74
Arrhythmogenic Right Ventricular Cardiomyopathy 10 58 12 76
Arrhythmogenic Right Ventricular Dysplasia 10 58 12 13
Arvd10 58 12 76
Arvc10 58 12 76
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 10 30 6
Arrhythmogenic Right Ventricular Cardiomyopathy 10; Arvc10 58
Familial Arrhythmogenic Right Ventricular Dysplasia 10 12
Dysplasia, Ventricular, Right, Arrhythmogenic, Type 10 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
mean age at diagnosis is 38 years(range 11-63 years)


HPO:

33
arrhythmogenic right ventricular dysplasia, familial, 10:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110081
OMIM 58 610193
MeSH 45 D019571
ICD10 34 I42.8
MedGen 43 C1857777
UMLS 74 C1857777

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

UniProtKB/Swiss-Prot : 76 Arrhythmogenic right ventricular dysplasia, familial, 10: 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, 10, is also known as arrhythmogenic right ventricular cardiomyopathy 10. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 is DSG2 (Desmoglein 2). Affiliated tissues include heart and skin, and related phenotypes are sudden cardiac death and ventricular tachycardia

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the desmoglein-2 gene (DSG2) on chromosome 18q12.

Description from OMIM: 610193

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 10:

33
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 33 HP:0001645
2 ventricular tachycardia 33 HP:0004756
3 ventricular extrasystoles 33 HP:0006682
4 palpitations 33 HP:0001962
5 right ventricular cardiomyopathy 33 HP:0011663

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
sudden cardiac death
palpitations
cardiomyopathy, right ventricular
fibrofatty replacement of right ventricular myocardium
ventricular arrhythmia (pvc, nonsustained vt, sustained vt)

Clinical features from OMIM:

610193

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 10:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Cardiomyopathy, Type 10 30 DSG2

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 10:

42
Heart, Skin

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

Articles related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 10:

# 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
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
3
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
4
A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy. ( 18678517 )
2008
5
Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease. ( 17105751 )
2007
6
Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. ( 16505173 )
2006
7
DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. ( 16773573 )
2006

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

UniProtKB/Swiss-Prot genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10:

76
# Symbol AA change Variation ID SNP ID
1 DSG2 p.Arg46Gln VAR_029365 rs121913008
2 DSG2 p.Arg49His VAR_029366 rs121913006
3 DSG2 p.Cys507Tyr VAR_029367 rs121913009
4 DSG2 p.Gly812Cys VAR_029368 rs121913010
5 DSG2 p.Thr335Ala VAR_065686 rs191564916

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10:

6 (show top 50) (show all 391)
# Gene Variation Type Significance SNP ID Assembly Location
1 DSG2 NM_001943.4(DSG2): c.146G> A (p.Arg49His) single nucleotide variant Pathogenic/Likely pathogenic rs121913006 GRCh37 Chromosome 18, 29099830: 29099830
2 DSG2 NM_001943.4(DSG2): c.146G> A (p.Arg49His) single nucleotide variant Pathogenic/Likely pathogenic rs121913006 GRCh38 Chromosome 18, 31519867: 31519867
3 DSG2 NM_001943.4(DSG2): c.918G> A (p.Trp306Ter) single nucleotide variant Pathogenic rs121913007 GRCh37 Chromosome 18, 29104755: 29104755
4 DSG2 NM_001943.4(DSG2): c.918G> A (p.Trp306Ter) single nucleotide variant Pathogenic rs121913007 GRCh38 Chromosome 18, 31524792: 31524792
5 DSG2 NM_001943.4(DSG2): c.137G> A (p.Arg46Gln) single nucleotide variant Pathogenic rs121913008 GRCh37 Chromosome 18, 29099821: 29099821
6 DSG2 NM_001943.4(DSG2): c.137G> A (p.Arg46Gln) single nucleotide variant Pathogenic rs121913008 GRCh38 Chromosome 18, 31519858: 31519858
7 DSG2 NM_001943.4(DSG2): c.1520G> A (p.Cys507Tyr) single nucleotide variant Pathogenic rs121913009 GRCh37 Chromosome 18, 29116261: 29116261
8 DSG2 NM_001943.4(DSG2): c.1520G> A (p.Cys507Tyr) single nucleotide variant Pathogenic rs121913009 GRCh38 Chromosome 18, 31536298: 31536298
9 DSG2 NM_001943.4(DSG2): c.2434G> T (p.Gly812Cys) single nucleotide variant Likely pathogenic rs121913010 GRCh37 Chromosome 18, 29125783: 29125783
10 DSG2 NM_001943.4(DSG2): c.2434G> T (p.Gly812Cys) single nucleotide variant Likely pathogenic rs121913010 GRCh38 Chromosome 18, 31545820: 31545820
11 DSG2 NM_001943.4(DSG2): c.797A> G (p.Asn266Ser) single nucleotide variant Pathogenic rs121913011 GRCh37 Chromosome 18, 29104517: 29104517
12 DSG2 NM_001943.4(DSG2): c.797A> G (p.Asn266Ser) single nucleotide variant Pathogenic rs121913011 GRCh38 Chromosome 18, 31524554: 31524554
13 DSG2 NM_001943.4(DSG2): c.991G> A (p.Glu331Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs121913012 GRCh37 Chromosome 18, 29104828: 29104828
14 DSG2 NM_001943.4(DSG2): c.991G> A (p.Glu331Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs121913012 GRCh38 Chromosome 18, 31524865: 31524865
15 DSG2 NM_001943.4(DSG2): c.1880-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs397514038 GRCh37 Chromosome 18, 29121154: 29121154
16 DSG2 NM_001943.4(DSG2): c.1880-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs397514038 GRCh38 Chromosome 18, 31541191: 31541191
17 DSG2 NM_001943.4(DSG2): c.166G> A (p.Val56Met) single nucleotide variant risk factor rs121913013 GRCh37 Chromosome 18, 29099850: 29099850
18 DSG2 NM_001943.4(DSG2): c.166G> A (p.Val56Met) single nucleotide variant risk factor rs121913013 GRCh38 Chromosome 18, 31519887: 31519887
19 DSG2 NM_001943.4(DSG2): c.1174G> A (p.Val392Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs193922639 GRCh37 Chromosome 18, 29111109: 29111109
20 DSG2 NM_001943.4(DSG2): c.1174G> A (p.Val392Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs193922639 GRCh38 Chromosome 18, 31531146: 31531146
21 DSG2 NM_001943.4(DSG2): c.1543G> A (p.Val515Ile) single nucleotide variant Benign/Likely benign rs2230235 GRCh37 Chromosome 18, 29116284: 29116284
22 DSG2 NM_001943.4(DSG2): c.1543G> A (p.Val515Ile) single nucleotide variant Benign/Likely benign rs2230235 GRCh38 Chromosome 18, 31536321: 31536321
23 DSG2 NM_001943.4(DSG2): c.2647T> C (p.Ser883Pro) single nucleotide variant Benign rs34417028 GRCh37 Chromosome 18, 29125996: 29125996
24 DSG2 NM_001943.4(DSG2): c.2647T> C (p.Ser883Pro) single nucleotide variant Benign rs34417028 GRCh38 Chromosome 18, 31546033: 31546033
25 DSG2 NM_001943.4(DSG2): c.2708C> T (p.Thr903Ile) single nucleotide variant Benign rs34065672 GRCh37 Chromosome 18, 29126057: 29126057
26 DSG2 NM_001943.4(DSG2): c.2708C> T (p.Thr903Ile) single nucleotide variant Benign rs34065672 GRCh38 Chromosome 18, 31546094: 31546094
27 DSG2 NM_001943.4(DSG2): c.3135A> C (p.Thr1045=) single nucleotide variant Benign rs8095704 GRCh37 Chromosome 18, 29126484: 29126484
28 DSG2 NM_001943.4(DSG2): c.3135A> C (p.Thr1045=) single nucleotide variant Benign rs8095704 GRCh38 Chromosome 18, 31546521: 31546521
29 DSG2 NM_001943.4(DSG2): c.1051A> G (p.Ser351Gly) single nucleotide variant Benign/Likely benign rs139326669 GRCh37 Chromosome 18, 29110986: 29110986
30 DSG2 NM_001943.4(DSG2): c.1051A> G (p.Ser351Gly) single nucleotide variant Benign/Likely benign rs139326669 GRCh38 Chromosome 18, 31531023: 31531023
31 DSG2 NM_001943.4(DSG2): c.1003A> G (p.Thr335Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs191564916 GRCh37 Chromosome 18, 29104840: 29104840
32 DSG2 NM_001943.4(DSG2): c.1003A> G (p.Thr335Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs191564916 GRCh38 Chromosome 18, 31524877: 31524877
33 DSG2 NM_001943.3(DSG2): c.1592T> G (p.Phe531Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs200484060 GRCh37 Chromosome 18, 29116333: 29116333
34 DSG2 NM_001943.3(DSG2): c.1592T> G (p.Phe531Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs200484060 GRCh38 Chromosome 18, 31536370: 31536370
35 DSG2 NM_001943.3(DSG2): c.1592T> G (p.Phe531Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs200484060 NCBI36 Chromosome 18, 27370331: 27370331
36 DSG2 NM_001943.4(DSG2): c.1781T> C (p.Leu594Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs199681901 GRCh37 Chromosome 18, 29118843: 29118843
37 DSG2 NM_001943.4(DSG2): c.1781T> C (p.Leu594Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs199681901 GRCh38 Chromosome 18, 31538880: 31538880
38 DSG2 NM_001943.4(DSG2): c.1837G> A (p.Ala613Thr) single nucleotide variant Uncertain significance rs368257724 GRCh37 Chromosome 18, 29118899: 29118899
39 DSG2 NM_001943.4(DSG2): c.1837G> A (p.Ala613Thr) single nucleotide variant Uncertain significance rs368257724 GRCh38 Chromosome 18, 31538936: 31538936
40 DSG2 NM_001943.4(DSG2): c.1851C> T (p.Leu617=) single nucleotide variant Likely benign rs202057770 GRCh37 Chromosome 18, 29118913: 29118913
41 DSG2 NM_001943.4(DSG2): c.1851C> T (p.Leu617=) single nucleotide variant Likely benign rs202057770 GRCh38 Chromosome 18, 31538950: 31538950
42 DSG2 NM_001943.4(DSG2): c.1875G> C (p.Leu625=) single nucleotide variant Benign/Likely benign rs35743180 GRCh37 Chromosome 18, 29118937: 29118937
43 DSG2 NM_001943.4(DSG2): c.1875G> C (p.Leu625=) single nucleotide variant Benign/Likely benign rs35743180 GRCh38 Chromosome 18, 31538974: 31538974
44 DSG2 NM_001943.4(DSG2): c.1911C> T (p.Cys637=) single nucleotide variant Benign/Likely benign rs201654341 GRCh37 Chromosome 18, 29121187: 29121187
45 DSG2 NM_001943.4(DSG2): c.1911C> T (p.Cys637=) single nucleotide variant Benign/Likely benign rs201654341 GRCh38 Chromosome 18, 31541224: 31541224
46 DSG2 NM_001943.4(DSG2): c.1914A> G (p.Gly638=) single nucleotide variant Conflicting interpretations of pathogenicity rs200395484 GRCh37 Chromosome 18, 29121190: 29121190
47 DSG2 NM_001943.4(DSG2): c.1914A> G (p.Gly638=) single nucleotide variant Conflicting interpretations of pathogenicity rs200395484 GRCh38 Chromosome 18, 31541227: 31541227
48 DSG2 NM_001943.4(DSG2): c.217-5G> T single nucleotide variant Benign/Likely benign rs80073511 GRCh37 Chromosome 18, 29100761: 29100761
49 DSG2 NM_001943.4(DSG2): c.217-5G> T single nucleotide variant Benign/Likely benign rs80073511 GRCh38 Chromosome 18, 31520798: 31520798
50 DSG2 NM_001943.4(DSG2): c.2211C> T (p.Gly737=) single nucleotide variant Benign rs74578148 GRCh37 Chromosome 18, 29122692: 29122692

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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