ARVD10
MCID: ARR028
MIFTS: 20

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 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

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:

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.1912G> A (p.Gly638Arg) single nucleotide variant Uncertain significance rs201564919 GRCh37 Chromosome 18, 29121188: 29121188
2 DSG2 NM_001943.4(DSG2): c.1912G> A (p.Gly638Arg) single nucleotide variant Uncertain significance rs201564919 GRCh38 Chromosome 18, 31541225: 31541225
3 DSG2 NM_001943.4(DSG2): c.706A> G (p.Thr236Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs727502985 GRCh37 Chromosome 18, 29104426: 29104426
4 DSG2 NM_001943.4(DSG2): c.706A> G (p.Thr236Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs727502985 GRCh38 Chromosome 18, 31524463: 31524463
5 DSG2 NM_001943.4(DSG2): c.1284T> C (p.Tyr428=) single nucleotide variant Likely benign rs202095254 GRCh37 Chromosome 18, 29115236: 29115236
6 DSG2 NM_001943.4(DSG2): c.1284T> C (p.Tyr428=) single nucleotide variant Likely benign rs202095254 GRCh38 Chromosome 18, 31535273: 31535273
7 DSG2 NM_001943.4(DSG2): c.1478A> G (p.Asn493Ser) single nucleotide variant Uncertain significance rs375679311 GRCh37 Chromosome 18, 29116219: 29116219
8 DSG2 NM_001943.4(DSG2): c.1478A> G (p.Asn493Ser) single nucleotide variant Uncertain significance rs375679311 GRCh38 Chromosome 18, 31536256: 31536256
9 DSG2 NM_001943.4(DSG2): c.1478A> G (p.Asn493Ser) single nucleotide variant Uncertain significance rs375679311 NCBI36 Chromosome 18, 27370217: 27370217
10 DSG2 NM_001943.4(DSG2): c.1550C> T (p.Ala517Val) single nucleotide variant Benign/Likely benign rs200509948 GRCh37 Chromosome 18, 29116291: 29116291
11 DSG2 NM_001943.4(DSG2): c.1550C> T (p.Ala517Val) single nucleotide variant Benign/Likely benign rs200509948 GRCh38 Chromosome 18, 31536328: 31536328
12 DSG2 NM_001943.4(DSG2): c.2033G> C (p.Gly678Ala) single nucleotide variant Uncertain significance rs372494397 GRCh37 Chromosome 18, 29122514: 29122514
13 DSG2 NM_001943.4(DSG2): c.2033G> C (p.Gly678Ala) single nucleotide variant Uncertain significance rs372494397 GRCh38 Chromosome 18, 31542551: 31542551
14 DSG2 NM_001943.4(DSG2): c.2305G> A (p.Glu769Lys) single nucleotide variant Uncertain significance rs371146201 GRCh37 Chromosome 18, 29122786: 29122786
15 DSG2 NM_001943.4(DSG2): c.2305G> A (p.Glu769Lys) single nucleotide variant Uncertain significance rs371146201 GRCh38 Chromosome 18, 31542823: 31542823
16 DSG2 NM_001943.4(DSG2): c.2484T> C (p.Asp828=) single nucleotide variant Benign rs201051252 GRCh37 Chromosome 18, 29125833: 29125833
17 DSG2 NM_001943.4(DSG2): c.2484T> C (p.Asp828=) single nucleotide variant Benign rs201051252 GRCh38 Chromosome 18, 31545870: 31545870
18 DSG2 NM_001943.4(DSG2): c.3281_3283delGTCinsTTA (p.Gly1094_His1095delinsValAsn) indel Uncertain significance rs386802145 GRCh37 Chromosome 18, 29126630: 29126632
19 DSG2 NM_001943.4(DSG2): c.3281_3283delGTCinsTTA (p.Gly1094_His1095delinsValAsn) indel Uncertain significance rs386802145 GRCh38 Chromosome 18, 31546667: 31546669
20 DSG2 NM_001943.4(DSG2): c.782G> A (p.Arg261His) single nucleotide variant Conflicting interpretations of pathogenicity rs727502984 GRCh37 Chromosome 18, 29104502: 29104502
21 DSG2 NM_001943.4(DSG2): c.782G> A (p.Arg261His) single nucleotide variant Conflicting interpretations of pathogenicity rs727502984 GRCh38 Chromosome 18, 31524539: 31524539
22 DSG2 NM_001943.4(DSG2): c.1303G> A (p.Asp435Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs370509593 GRCh38 Chromosome 18, 31535292: 31535292
23 DSG2 NM_001943.4(DSG2): c.1303G> A (p.Asp435Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs370509593 GRCh37 Chromosome 18, 29115255: 29115255
24 DSG2 NM_001943.4(DSG2): c.1487dupG (p.Cys496Trpfs) duplication Conflicting interpretations of pathogenicity rs730880347 GRCh37 Chromosome 18, 29116228: 29116228
25 DSG2 NM_001943.4(DSG2): c.1487dupG (p.Cys496Trpfs) duplication Conflicting interpretations of pathogenicity rs730880347 GRCh38 Chromosome 18, 31536265: 31536265
26 DSG2 NM_001943.4(DSG2): c.2096G> T (p.Ser699Ile) single nucleotide variant Uncertain significance rs727504770 GRCh38 Chromosome 18, 31542614: 31542614
27 DSG2 NM_001943.4(DSG2): c.2096G> T (p.Ser699Ile) single nucleotide variant Uncertain significance rs727504770 GRCh37 Chromosome 18, 29122577: 29122577
28 DSG2 NM_001943.4(DSG2): c.2368C> T (p.His790Tyr) single nucleotide variant Likely benign rs114544564 GRCh37 Chromosome 18, 29125717: 29125717
29 DSG2 NM_001943.4(DSG2): c.2368C> T (p.His790Tyr) single nucleotide variant Likely benign rs114544564 GRCh38 Chromosome 18, 31545754: 31545754
30 DSG2 NM_001943.4(DSG2): c.3082G> A (p.Gly1028Ser) single nucleotide variant Benign/Likely benign rs150864240 GRCh37 Chromosome 18, 29126431: 29126431
31 DSG2 NM_001943.4(DSG2): c.3082G> A (p.Gly1028Ser) single nucleotide variant Benign/Likely benign rs150864240 GRCh38 Chromosome 18, 31546468: 31546468
32 DSG2 NM_001943.4(DSG2): c.3209C> T (p.Thr1070Met) single nucleotide variant Conflicting interpretations of pathogenicity rs149617776 GRCh37 Chromosome 18, 29126558: 29126558
33 DSG2 NM_001943.4(DSG2): c.3209C> T (p.Thr1070Met) single nucleotide variant Conflicting interpretations of pathogenicity rs149617776 GRCh38 Chromosome 18, 31546595: 31546595
34 DSG2 NM_001943.4(DSG2): c.1562A> G (p.Asp521Gly) single nucleotide variant Uncertain significance rs730880077 GRCh38 Chromosome 18, 31536340: 31536340
35 DSG2 NM_001943.4(DSG2): c.1562A> G (p.Asp521Gly) single nucleotide variant Uncertain significance rs730880077 GRCh37 Chromosome 18, 29116303: 29116303
36 DSG2 NM_001943.4(DSG2): c.523+1G> A single nucleotide variant Likely pathogenic rs553299589 GRCh38 Chromosome 18, 31521244: 31521244
37 DSG2 NM_001943.4(DSG2): c.523+1G> A single nucleotide variant Likely pathogenic rs553299589 GRCh37 Chromosome 18, 29101207: 29101207
38 DSG2 NM_001943.4(DSG2): c.523+1G> C single nucleotide variant Pathogenic rs553299589 GRCh38 Chromosome 18, 31521244: 31521244
39 DSG2 NM_001943.4(DSG2): c.523+1G> C single nucleotide variant Pathogenic rs553299589 GRCh37 Chromosome 18, 29101207: 29101207
40 DSG2 NM_001943.4(DSG2): c.593A> G (p.Tyr198Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs786204291 GRCh37 Chromosome 18, 29102115: 29102115
41 DSG2 NM_001943.4(DSG2): c.593A> G (p.Tyr198Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs786204291 GRCh38 Chromosome 18, 31522152: 31522152
42 DSG2 NM_001943.4(DSG2): c.1643G> A (p.Arg548His) single nucleotide variant Conflicting interpretations of pathogenicity rs551034751 GRCh37 Chromosome 18, 29116384: 29116384
43 DSG2 NM_001943.4(DSG2): c.1643G> A (p.Arg548His) single nucleotide variant Conflicting interpretations of pathogenicity rs551034751 GRCh38 Chromosome 18, 31536421: 31536421
44 DSG2 NM_001943.4(DSG2): c.1376A> G (p.Tyr459Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs576404380 GRCh37 Chromosome 18, 29115328: 29115328
45 DSG2 NM_001943.4(DSG2): c.1376A> G (p.Tyr459Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs576404380 GRCh38 Chromosome 18, 31535365: 31535365
46 DSG2 NM_001943.4(DSG2): c.829_840delCTTGAAGGGATG (p.Leu277_Met280del) deletion Conflicting interpretations of pathogenicity rs794728093 GRCh37 Chromosome 18, 29104666: 29104677
47 DSG2 NM_001943.4(DSG2): c.829_840delCTTGAAGGGATG (p.Leu277_Met280del) deletion Conflicting interpretations of pathogenicity rs794728093 GRCh38 Chromosome 18, 31524703: 31524714
48 DSG2 NM_001943.4(DSG2): c.875G> T (p.Arg292Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs185821167 GRCh38 Chromosome 18, 31524749: 31524749
49 DSG2 NM_001943.4(DSG2): c.875G> T (p.Arg292Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs185821167 GRCh37 Chromosome 18, 29104712: 29104712
50 DSG2 NM_001943.3(DSG2): c.880A> G (p.Lys294Glu) single nucleotide variant Uncertain significance rs752432726 GRCh37 Chromosome 18, 29104717: 29104717

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

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