MCID: ARR028
MIFTS: 19

Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

Categories: Genetic diseases, Cardiovascular 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 57 75 73
Arrhythmogenic Right Ventricular Cardiomyopathy 10 57 12 75
Arrhythmogenic Right Ventricular Dysplasia 10 57 12 13
Arvd10 57 12 75
Arvc10 57 12 75
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 10 29 6
Arrhythmogenic Right Ventricular Cardiomyopathy 10; Arvc10 57
Familial Arrhythmogenic Right Ventricular Dysplasia 10 12
Dysplasia, Ventricular, Right, Arrhythmogenic, Type 10 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
arrhythmogenic right ventricular dysplasia, familial, 10:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 57 610193
Disease Ontology 12 DOID:0110081
ICD10 33 I42.8
MedGen 42 C1857777
MeSH 44 D019571
UMLS 73 C1857777

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

UniProtKB/Swiss-Prot : 75 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 related phenotypes are sudden cardiac death and palpitations

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

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
cardiomyopathy, right ventricular
fibrofatty replacement of right ventricular myocardium
ventricular arrhythmia (pvc, nonsustained vt, sustained vt)
palpitations
sudden cardiac death


Clinical features from OMIM:

610193

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

32
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 32 HP:0001645
2 palpitations 32 HP:0001962
3 ventricular tachycardia 32 HP:0004756
4 ventricular extrasystoles 32 HP:0006682
5 right ventricular cardiomyopathy 32 HP:0011663

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 29 DSG2

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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

41
Heart

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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

75
# 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 245)
# 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/Likely pathogenic rs121913008 GRCh37 Chromosome 18, 29099821: 29099821
6 DSG2 NM_001943.4(DSG2): c.137G> A (p.Arg46Gln) single nucleotide variant Pathogenic/Likely 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.1880-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs397514038 GRCh37 Chromosome 18, 29121154: 29121154
14 DSG2 NM_001943.4(DSG2): c.1880-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs397514038 GRCh38 Chromosome 18, 31541191: 31541191
15 DSG2 NM_001943.4(DSG2): c.166G> A (p.Val56Met) single nucleotide variant risk factor rs121913013 GRCh37 Chromosome 18, 29099850: 29099850
16 DSG2 NM_001943.4(DSG2): c.166G> A (p.Val56Met) single nucleotide variant risk factor rs121913013 GRCh38 Chromosome 18, 31519887: 31519887
17 DSG2 NM_001943.4(DSG2): c.523+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs397516709 GRCh37 Chromosome 18, 29101208: 29101208
18 DSG2 NM_001943.4(DSG2): c.523+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs397516709 GRCh38 Chromosome 18, 31521245: 31521245
19 DSG2 NM_001943.4(DSG2): c.1912G> A (p.Gly638Arg) single nucleotide variant Uncertain significance rs201564919 GRCh37 Chromosome 18, 29121188: 29121188
20 DSG2 NM_001943.4(DSG2): c.1912G> A (p.Gly638Arg) single nucleotide variant Uncertain significance rs201564919 GRCh38 Chromosome 18, 31541225: 31541225
21 DSG2 NM_001943.4(DSG2): c.706A> G (p.Thr236Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs727502985 GRCh37 Chromosome 18, 29104426: 29104426
22 DSG2 NM_001943.4(DSG2): c.706A> G (p.Thr236Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs727502985 GRCh38 Chromosome 18, 31524463: 31524463
23 DSG2 NM_001943.4(DSG2): c.1284T> C (p.Tyr428=) single nucleotide variant Likely benign rs202095254 GRCh37 Chromosome 18, 29115236: 29115236
24 DSG2 NM_001943.4(DSG2): c.1284T> C (p.Tyr428=) single nucleotide variant Likely benign rs202095254 GRCh38 Chromosome 18, 31535273: 31535273
25 DSG2 NM_001943.4(DSG2): c.1478A> G (p.Asn493Ser) single nucleotide variant Uncertain significance rs375679311 NCBI36 Chromosome 18, 27370217: 27370217
26 DSG2 NM_001943.4(DSG2): c.1478A> G (p.Asn493Ser) single nucleotide variant Uncertain significance rs375679311 GRCh37 Chromosome 18, 29116219: 29116219
27 DSG2 NM_001943.4(DSG2): c.1478A> G (p.Asn493Ser) single nucleotide variant Uncertain significance rs375679311 GRCh38 Chromosome 18, 31536256: 31536256
28 DSG2 NM_001943.4(DSG2): c.1550C> T (p.Ala517Val) single nucleotide variant Benign/Likely benign rs200509948 GRCh37 Chromosome 18, 29116291: 29116291
29 DSG2 NM_001943.4(DSG2): c.1550C> T (p.Ala517Val) single nucleotide variant Benign/Likely benign rs200509948 GRCh38 Chromosome 18, 31536328: 31536328
30 DSG2 NM_001943.4(DSG2): c.2484T> C (p.Asp828=) single nucleotide variant Benign rs201051252 GRCh37 Chromosome 18, 29125833: 29125833
31 DSG2 NM_001943.4(DSG2): c.2484T> C (p.Asp828=) single nucleotide variant Benign rs201051252 GRCh38 Chromosome 18, 31545870: 31545870
32 DSG2 NM_001943.4(DSG2): c.3281_3283delGTCinsTTA (p.Gly1094_His1095delinsValAsn) indel Uncertain significance rs386802145 GRCh37 Chromosome 18, 29126630: 29126632
33 DSG2 NM_001943.4(DSG2): c.3281_3283delGTCinsTTA (p.Gly1094_His1095delinsValAsn) indel Uncertain significance rs386802145 GRCh38 Chromosome 18, 31546667: 31546669
34 DSG2 NM_001943.4(DSG2): c.782G> A (p.Arg261His) single nucleotide variant Conflicting interpretations of pathogenicity rs727502984 GRCh37 Chromosome 18, 29104502: 29104502
35 DSG2 NM_001943.4(DSG2): c.782G> A (p.Arg261His) single nucleotide variant Conflicting interpretations of pathogenicity rs727502984 GRCh38 Chromosome 18, 31524539: 31524539
36 DSG2 NM_001943.4(DSG2): c.1303G> A (p.Asp435Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs370509593 GRCh37 Chromosome 18, 29115255: 29115255
37 DSG2 NM_001943.4(DSG2): c.1303G> A (p.Asp435Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs370509593 GRCh38 Chromosome 18, 31535292: 31535292
38 DSG2 NM_001943.4(DSG2): c.1487dupG (p.Cys496Trpfs) duplication Conflicting interpretations of pathogenicity rs730880347 GRCh37 Chromosome 18, 29116228: 29116228
39 DSG2 NM_001943.4(DSG2): c.1487dupG (p.Cys496Trpfs) duplication Conflicting interpretations of pathogenicity rs730880347 GRCh38 Chromosome 18, 31536265: 31536265
40 DSG2 NM_001943.4(DSG2): c.2368C> T (p.His790Tyr) single nucleotide variant Likely benign rs114544564 GRCh37 Chromosome 18, 29125717: 29125717
41 DSG2 NM_001943.4(DSG2): c.2368C> T (p.His790Tyr) single nucleotide variant Likely benign rs114544564 GRCh38 Chromosome 18, 31545754: 31545754
42 DSG2 NM_001943.4(DSG2): c.3082G> A (p.Gly1028Ser) single nucleotide variant Benign/Likely benign rs150864240 GRCh37 Chromosome 18, 29126431: 29126431
43 DSG2 NM_001943.4(DSG2): c.3082G> A (p.Gly1028Ser) single nucleotide variant Benign/Likely benign rs150864240 GRCh38 Chromosome 18, 31546468: 31546468
44 DSG2 NM_001943.4(DSG2): c.3209C> T (p.Thr1070Met) single nucleotide variant Conflicting interpretations of pathogenicity rs149617776 GRCh37 Chromosome 18, 29126558: 29126558
45 DSG2 NM_001943.4(DSG2): c.3209C> T (p.Thr1070Met) single nucleotide variant Conflicting interpretations of pathogenicity rs149617776 GRCh38 Chromosome 18, 31546595: 31546595
46 DSG2 NM_001943.4(DSG2): c.1562A> G (p.Asp521Gly) single nucleotide variant Uncertain significance rs730880077 GRCh38 Chromosome 18, 31536340: 31536340
47 DSG2 NM_001943.4(DSG2): c.1562A> G (p.Asp521Gly) single nucleotide variant Uncertain significance rs730880077 GRCh37 Chromosome 18, 29116303: 29116303
48 DSG2 NM_001943.4(DSG2): c.523+1G> C single nucleotide variant Likely pathogenic rs553299589 GRCh38 Chromosome 18, 31521244: 31521244
49 DSG2 NM_001943.4(DSG2): c.523+1G> C single nucleotide variant Likely pathogenic rs553299589 GRCh37 Chromosome 18, 29101207: 29101207
50 DSG2 NM_001943.4(DSG2): c.593A> G (p.Tyr198Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs786204291 GRCh37 Chromosome 18, 29102115: 29102115

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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