ARVD11
MCID: ARR027
MIFTS: 31

Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 (ARVD11)

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

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 57 74 72
Arrhythmogenic Right Ventricular Dysplasia 11 with Mild Palmoplantar Keratoderma and Woolly Hair 57 74 29 13
Arrhythmogenic Right Ventricular Cardiomyopathy 11 57 12 74
Arvd11 57 12 74
Arvc11 57 12 74
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, with Mild Palmoplantar Keratoderma and Woolly Hair 29 6
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 11 29 6
Arrhythmogenic Right Ventricular Dysplasia 11 57 12
Arrhythmogenic Right Ventricular Dysplasia 11, Familial, and Mild Palmoplantar Keratoderma and Woolly Hair 74
Arvd and Mild Palmoplantar Keratoderma with or Without Woolly Hair 74
Arrhythmogenic Right Ventricular Cardiomyopathy 11; Arvc11 57
Familial Arrhythmogenic Right Ventricular Dysplasia 11 12
Dysplasia, Ventricular, Right, Arrhythmogenic, Type 11 40
Arvd11pk 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
patients with homozygous mutations display mild palmoplantar keratoderma with or without woolly hair in addition to arvd


HPO:

32
arrhythmogenic right ventricular dysplasia, familial, 11:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110082
ICD10 33 I42.8
UMLS 72 C1864850

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

UniProtKB/Swiss-Prot : 74 Arrhythmogenic right ventricular dysplasia 11, familial, and mild palmoplantar keratoderma and woolly hair: An autosomal recessive disease characterized by arrhythmogenic cardiomyopathy in association with palmoplantar keratoderma and woolly hair. Arrhythmogenic right ventricular dysplasia, familial, 11: 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, 11, is also known as arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, and has symptoms including dyspnea and syncope. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 is DSC2 (Desmocollin 2). Affiliated tissues include heart and testes, and related phenotypes are sudden cardiac death and dyspnea

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the desmocollin-2 gene (DSC2) on chromosome 18q.

More information from OMIM: 610476 PS107970

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 11:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 32 HP:0001645
2 dyspnea 32 HP:0002094
3 palmoplantar keratoderma 32 HP:0000982
4 woolly hair 32 HP:0002224
5 syncope 32 HP:0001279
6 palpitations 32 HP:0001962
7 ventricular arrhythmia 32 HP:0004308
8 right ventricular cardiomyopathy 32 HP:0011663

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
dyspnea
syncope
palpitations
ventricular arrhythmia
fibrofatty replacement of right ventricular myocardium
more
Skin Nails Hair Hair:
woolly hair (in some homozygous patients)

Skin Nails Hair Skin:
palmoplantar keratoderma, mild (in homozygous patients)

Clinical features from OMIM:

610476

UMLS symptoms related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 11:


dyspnea, syncope

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 11:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Cardiomyopathy, Type 11 29 DSC2
2 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, with Mild Palmoplantar Keratoderma and Woolly Hair 29
3 Arrhythmogenic Right Ventricular Dysplasia 11 with Mild Palmoplantar Keratoderma and Woolly Hair 29

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 11:

41
Heart, Testes

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

Articles related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 11:

(show all 13)
# Title Authors PMID Year
1
The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy. 8 71
20197793 2010
2
Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. 8 71
18957847 2009
3
Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy. 8 71
17186466 2006
4
Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. 8 71
17033975 2006
5
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. 71
27854360 2017
6
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 71
25356965 2015
7
Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. 8
23863954 2013
8
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 71
23788249 2013
9
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 71
21810866 2011
10
Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. 8
20172912 2010
11
Arrhythmogenic Right Ventricular Cardiomyopathy 71
20301310 2005
12
Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria. 8
12392835 2002
13
[Radiofrequency catheter ablation of ventricular tachycardia]. 38
8734170 1996

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11:

6 (show top 50) (show all 206)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DSC2 NM_004949.5(DSC2): c.882dup (p.Phe295fs) duplication Pathogenic rs1060502989 18:28666599-28666599 18:31086636-31086636
2 DSC2 NC_000018.9: g.(?_28672044)_(28681954_?)del deletion Pathogenic
3 DSC2 NM_004949.5(DSC2): c.996T> G (p.Tyr332Ter) single nucleotide variant Pathogenic rs1555639134 18:28662973-28662973 18:31083007-31083007
4 DSC2 NM_004949.5(DSC2): c.34_35del (p.Gly12fs) deletion Pathogenic rs1395367133 18:28681900-28681901 18:31101937-31101938
5 DSC2 NC_000018.9: g.(?_28650672)_(28650836_?)del deletion Pathogenic 18:28650672-28650836 18:31070706-31070870
6 DSC2 NC_000018.9: g.(?_28654629)_(28673626_?)dup duplication Pathogenic 18:28654629-28673626 :0-0
7 DSC2 NM_004949.5(DSC2): c.1430del (p.Thr477fs) deletion Pathogenic rs397514041 18:28660152-28660152 18:31080186-31080186
8 DSC2 NM_004949.5(DSC2): c.1841del (p.Ser614fs) deletion Pathogenic rs397514043 18:28654696-28654696 18:31074730-31074730
9 DSC2 NM_004949.5(DSC2): c.2463C> A (p.Tyr821Ter) single nucleotide variant Pathogenic 18:28648905-28648905 18:31068939-31068939
10 DSC2 NM_004949.5(DSC2): c.2200C> T (p.Gln734Ter) single nucleotide variant Pathogenic 18:28650742-28650742 18:31070776-31070776
11 DSC2 NM_004949.5(DSC2): c.2186del (p.Pro729fs) deletion Pathogenic 18:28650756-28650756 18:31070791-31070791
12 DSC2 NM_004949.5(DSC2): c.631-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs397514042 18:28667778-28667778 18:31087815-31087815
13 DSC2 NM_004949.5(DSC2): c.663T> A (p.Tyr221Ter) single nucleotide variant Pathogenic/Likely pathogenic rs145476705 18:28667744-28667744 18:31087781-31087781
14 DSC2 NM_004949.5(DSC2): c.943-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs796756333 18:28663027-28663027 18:31083061-31083061
15 DSC2 NM_004949.5(DSC2): c.749T> C (p.Phe250Ser) single nucleotide variant Likely pathogenic rs746173561 18:28667658-28667658 18:31087695-31087695
16 DSC2 NC_000018.9: g.(?_28673502)_(28673626_?)dup duplication Likely pathogenic 18:28673502-28673626 18:31093539-31093663
17 DSC2 NM_004949.5(DSC2): c.2250+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs1555637433 18:28650689-28650689 18:31070723-31070723
18 DSC2 NM_004949.5(DSC2): c.777C> T (p.Gly259=) single nucleotide variant Conflicting interpretations of pathogenicity rs565694087 18:28666704-28666704 18:31086741-31086741
19 DSC2 NM_004949.5(DSC2): c.1788G> A (p.Ala596=) single nucleotide variant Conflicting interpretations of pathogenicity rs146161960 18:28654749-28654749 18:31074783-31074783
20 DSC2 NM_004949.5(DSC2): c.2430G> A (p.Arg810=) single nucleotide variant Conflicting interpretations of pathogenicity rs755276378 18:28648938-28648938 18:31068972-31068972
21 DSC2 NM_004949.5(DSC2): c.489G> A (p.Thr163=) single nucleotide variant Conflicting interpretations of pathogenicity rs752952811 18:28669543-28669543 18:31089580-31089580
22 DSC2 NM_004949.5(DSC2): c.1775C> T (p.Ala592Val) single nucleotide variant Conflicting interpretations of pathogenicity rs140232809 18:28654762-28654762 18:31074796-31074796
23 DSC2 NM_004949.5(DSC2): c.1552G> C (p.Val518Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs397517394 18:28659924-28659924 18:31079958-31079958
24 DSC2 NM_004949.5(DSC2): c.907G> A (p.Val303Met) single nucleotide variant Conflicting interpretations of pathogenicity rs145560678 18:28666574-28666574 18:31086611-31086611
25 DSC2 NM_004949.5(DSC2): c.1719C> T (p.Asn573=) single nucleotide variant Conflicting interpretations of pathogenicity rs140167653 18:28654818-28654818 18:31074852-31074852
26 DSC2 NM_004949.5(DSC2): c.172T> G (p.Phe58Val) single nucleotide variant Conflicting interpretations of pathogenicity rs138749562 18:28672246-28672246 18:31092283-31092283
27 DSC2 NM_004949.5(DSC2): c.348A> G (p.Gln116=) single nucleotide variant Conflicting interpretations of pathogenicity rs137941742 18:28672070-28672070 18:31092107-31092107
28 DSC2 NM_004949.5(DSC2): c.2497C> T (p.Arg833Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142410803 18:28648871-28648871 18:31068905-31068905
29 DSC2 NM_004949.5(DSC2): c.2365_2367GGA[1] (p.Gly790del) short repeat Conflicting interpretations of pathogenicity rs377272752 18:28648998-28649000 18:31069032-31069034
30 DSC2 NM_024422.6(DSC2): c.2636A> G (p.Asp879Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs143342988 18:28648051-28648051 18:31068085-31068085
31 DSC2 NM_004949.5(DSC2): c.2125+1del deletion Conflicting interpretations of pathogenicity rs794728072 18:28651570-28651570 18:31071604-31071604
32 DSC2 NM_004949.5(DSC2): c.1789G> T (p.Val597Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs143040393 18:28654748-28654748 18:31074782-31074782
33 DSC2 NM_004949.5(DSC2): c.2194T> G (p.Leu732Val) single nucleotide variant Conflicting interpretations of pathogenicity rs151024019 18:28650748-28650748 18:31070782-31070782
34 DSC2 NM_004949.5(DSC2): c.1638T> C (p.Asn546=) single nucleotide variant Conflicting interpretations of pathogenicity rs145987522 18:28659838-28659838 18:31079872-31079872
35 DSC2 NM_004949.5(DSC2): c.1787C> T (p.Ala596Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148185335 18:28654750-28654750 18:31074784-31074784
36 DSC2 NM_004949.5(DSC2): c.1901G> A (p.Arg634His) single nucleotide variant Conflicting interpretations of pathogenicity rs200475862 18:28651795-28651795 18:31071829-31071829
37 DSC2 NM_004949.5(DSC2): c.1914G> C (p.Gln638His) single nucleotide variant Conflicting interpretations of pathogenicity rs147742157 18:28651782-28651782 18:31071816-31071816
38 DSC2 NM_004949.5(DSC2): c.2498G> A (p.Arg833His) single nucleotide variant Conflicting interpretations of pathogenicity rs370325533 18:28648870-28648870 18:31068904-31068904
39 DSC2 NM_004949.5(DSC2): c.270G> A (p.Glu90=) single nucleotide variant Conflicting interpretations of pathogenicity rs138643506 18:28672148-28672148 18:31092185-31092185
40 DSC2 NM_004949.5(DSC2): c.351A> G (p.Thr117=) single nucleotide variant Conflicting interpretations of pathogenicity rs117812913 18:28672067-28672067 18:31092104-31092104
41 DSC2 NM_004949.5(DSC2): c.304G> A (p.Glu102Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs144799937 18:28672114-28672114 18:31092151-31092151
42 DSC2 NM_004949.5(DSC2): c.327A> G (p.Ile109Met) single nucleotide variant Conflicting interpretations of pathogenicity rs373305929 18:28672091-28672091 18:31092128-31092128
43 DSC2 NM_004949.5(DSC2): c.854T> C (p.Ile285Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199918720 18:28666627-28666627 18:31086664-31086664
44 DSC2 NM_004949.5(DSC2): c.1521-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs374810953 18:28659962-28659962 18:31079996-31079996
45 DSC2 NM_004949.5(DSC2): c.1070G> A (p.Arg357His) single nucleotide variant Conflicting interpretations of pathogenicity rs201201194 18:28662899-28662899 18:31082933-31082933
46 DSC2 NM_004949.5(DSC2): c.857G> T (p.Gly286Val) single nucleotide variant Uncertain significance rs199682735 18:28666624-28666624 18:31086661-31086661
47 DSC2 NM_004949.5(DSC2): c.734A> C (p.Glu245Ala) single nucleotide variant Uncertain significance rs373201722 18:28667673-28667673 18:31087710-31087710
48 DSC2 NM_004949.5(DSC2): c.1034T> C (p.Ile345Thr) single nucleotide variant Uncertain significance rs777688726 18:28662935-28662935 18:31082969-31082969
49 DSC2 NM_004949.5(DSC2): c.34G> C (p.Gly12Arg) single nucleotide variant Uncertain significance rs568391206 18:28681901-28681901 18:31101938-31101938
50 DSC2 NM_004949.5(DSC2): c.2353G> A (p.Glu785Lys) single nucleotide variant Uncertain significance rs752873618 18:28649015-28649015 18:31069049-31069049

UniProtKB/Swiss-Prot genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11:

74
# Symbol AA change Variation ID SNP ID
1 DSC2 p.Arg203Cys VAR_065687 rs142331975
2 DSC2 p.Ile231Thr VAR_065688 rs139038721
3 DSC2 p.Thr275Met VAR_065689 rs397517404
4 DSC2 p.Thr340Ala VAR_065690 rs368299411
5 DSC2 p.Val364Met VAR_078340

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11.

Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

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10 dbSNP
11 DGIdb
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73 UMLS via Orphanet
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