ARVD11
MCID: ARR027
MIFTS: 26

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 58 76 74
Arrhythmogenic Right Ventricular Dysplasia 11 with Mild Palmoplantar Keratoderma and Woolly Hair 58 76 13
Arrhythmogenic Right Ventricular Cardiomyopathy 11 58 12 76
Arvd11 58 12 76
Arvc11 58 12 76
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, with Mild Palmoplantar Keratoderma and Woolly Hair 30 6
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 11 30 6
Arrhythmogenic Right Ventricular Dysplasia 11 58 12
Arrhythmogenic Right Ventricular Dysplasia 11, Familial, and Mild Palmoplantar Keratoderma and Woolly Hair 76
Arvd and Mild Palmoplantar Keratoderma with or Without Woolly Hair 76
Arrhythmogenic Right Ventricular Cardiomyopathy 11; Arvc11 58
Familial Arrhythmogenic Right Ventricular Dysplasia 11 12
Dysplasia, Ventricular, Right, Arrhythmogenic, Type 11 41
Arvd11pk 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

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


HPO:

33
arrhythmogenic right ventricular dysplasia, familial, 11:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

UniProtKB/Swiss-Prot : 76 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 skin, 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.

Description from OMIM: 610476

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

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

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 33 HP:0001645
2 dyspnea 33 HP:0002094
3 palmoplantar keratoderma 33 HP:0000982
4 woolly hair 33 HP:0002224
5 syncope 33 HP:0001279
6 palpitations 33 HP:0001962
7 ventricular arrhythmia 33 HP:0004308
8 right ventricular cardiomyopathy 33 HP:0011663

Symptoms via clinical synopsis from OMIM:

58
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 30 DSC2
2 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, with Mild Palmoplantar Keratoderma and Woolly Hair 30

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

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

42
Heart, Skin

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

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

# 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
The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy. ( 20197793 )
2010
5
Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. ( 18957847 )
2009
6
Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy. ( 17186466 )
2006
7
Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. ( 17033975 )
2006

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

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

76
# 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

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

6 (show top 50) (show all 353)
# Gene Variation Type Significance SNP ID Assembly Location
1 DSC2 NM_004949.4(DSC2): c.1430del (p.Thr477Metfs) deletion Pathogenic rs397514041 GRCh37 Chromosome 18, 28660152: 28660152
2 DSC2 NM_004949.4(DSC2): c.1430del (p.Thr477Metfs) deletion Pathogenic rs397514041 GRCh38 Chromosome 18, 31080186: 31080186
3 DSC2 NM_024422.4(DSC2): c.631-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs397514042 GRCh37 Chromosome 18, 28667778: 28667778
4 DSC2 NM_024422.4(DSC2): c.631-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs397514042 GRCh38 Chromosome 18, 31087815: 31087815
5 DSC2 NM_004949.4(DSC2): c.1841del (p.Ser614Ilefs) deletion Pathogenic rs397514043 GRCh37 Chromosome 18, 28654696: 28654696
6 DSC2 NM_004949.4(DSC2): c.1841del (p.Ser614Ilefs) deletion Pathogenic rs397514043 GRCh38 Chromosome 18, 31074730: 31074730
7 DSC2 NM_024422.4(DSC2): c.1350A> G (p.Arg450=) single nucleotide variant Benign/Likely benign rs144242114 GRCh37 Chromosome 18, 28660232: 28660232
8 DSC2 NM_024422.4(DSC2): c.1350A> G (p.Arg450=) single nucleotide variant Benign/Likely benign rs144242114 GRCh38 Chromosome 18, 31080266: 31080266
9 DSC2 NM_004949.4(DSC2): c.2194T> G (p.Leu732Val) single nucleotide variant Conflicting interpretations of pathogenicity rs151024019 GRCh37 Chromosome 18, 28650748: 28650748
10 DSC2 NM_004949.4(DSC2): c.2194T> G (p.Leu732Val) single nucleotide variant Conflicting interpretations of pathogenicity rs151024019 GRCh38 Chromosome 18, 31070782: 31070782
11 DSC2 NM_024422.4(DSC2): c.2393G> A (p.Arg798Gln) single nucleotide variant Benign/Likely benign rs61731921 GRCh37 Chromosome 18, 28648975: 28648975
12 DSC2 NM_024422.4(DSC2): c.2393G> A (p.Arg798Gln) single nucleotide variant Benign/Likely benign rs61731921 GRCh38 Chromosome 18, 31069009: 31069009
13 DSC2 NM_004949.4(DSC2): c.1073C> T (p.Thr358Ile) single nucleotide variant Benign/Likely benign rs139399951 GRCh37 Chromosome 18, 28662896: 28662896
14 DSC2 NM_004949.4(DSC2): c.1073C> T (p.Thr358Ile) single nucleotide variant Benign/Likely benign rs139399951 GRCh38 Chromosome 18, 31082930: 31082930
15 DSC2 NM_004949.4(DSC2): c.111A> G (p.Leu37=) single nucleotide variant Benign/Likely benign rs12954874 GRCh37 Chromosome 18, 28673565: 28673565
16 DSC2 NM_004949.4(DSC2): c.111A> G (p.Leu37=) single nucleotide variant Benign/Likely benign rs12954874 GRCh38 Chromosome 18, 31093602: 31093602
17 DSC2 NM_024422.4(DSC2): c.1264-5C> T single nucleotide variant Benign rs183614856 GRCh37 Chromosome 18, 28660323: 28660323
18 DSC2 NM_024422.4(DSC2): c.1264-5C> T single nucleotide variant Benign rs183614856 GRCh38 Chromosome 18, 31080357: 31080357
19 DSC2 NM_004949.4(DSC2): c.1552G> C (p.Val518Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs397517394 GRCh37 Chromosome 18, 28659924: 28659924
20 DSC2 NM_004949.4(DSC2): c.1552G> C (p.Val518Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs397517394 GRCh38 Chromosome 18, 31079958: 31079958
21 DSC2 NM_024422.4(DSC2): c.1729A> G (p.Ile577Val) single nucleotide variant Uncertain significance rs201845641 GRCh37 Chromosome 18, 28654808: 28654808
22 DSC2 NM_024422.4(DSC2): c.1729A> G (p.Ile577Val) single nucleotide variant Uncertain significance rs201845641 GRCh38 Chromosome 18, 31074842: 31074842
23 DSC2 NM_024422.4(DSC2): c.1787C> T (p.Ala596Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148185335 GRCh37 Chromosome 18, 28654750: 28654750
24 DSC2 NM_024422.4(DSC2): c.1787C> T (p.Ala596Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148185335 GRCh38 Chromosome 18, 31074784: 31074784
25 DSC2 NM_004949.4(DSC2): c.1901G> A (p.Arg634His) single nucleotide variant Conflicting interpretations of pathogenicity rs200475862 GRCh37 Chromosome 18, 28651795: 28651795
26 DSC2 NM_004949.4(DSC2): c.1901G> A (p.Arg634His) single nucleotide variant Conflicting interpretations of pathogenicity rs200475862 GRCh38 Chromosome 18, 31071829: 31071829
27 DSC2 NM_024422.4(DSC2): c.1914G> C (p.Gln638His) single nucleotide variant Conflicting interpretations of pathogenicity rs147742157 GRCh37 Chromosome 18, 28651782: 28651782
28 DSC2 NM_024422.4(DSC2): c.1914G> C (p.Gln638His) single nucleotide variant Conflicting interpretations of pathogenicity rs147742157 GRCh38 Chromosome 18, 31071816: 31071816
29 DSC2 NM_004949.4(DSC2): c.2326A> G (p.Ile776Val) single nucleotide variant Benign/Likely benign rs1893963 GRCh37 Chromosome 18, 28649042: 28649042
30 DSC2 NM_004949.4(DSC2): c.2326A> G (p.Ile776Val) single nucleotide variant Benign/Likely benign rs1893963 GRCh38 Chromosome 18, 31069076: 31069076
31 DSC2 NM_024422.4(DSC2): c.2393G> T (p.Arg798Leu) single nucleotide variant Uncertain significance rs61731921 GRCh37 Chromosome 18, 28648975: 28648975
32 DSC2 NM_024422.4(DSC2): c.2393G> T (p.Arg798Leu) single nucleotide variant Uncertain significance rs61731921 GRCh38 Chromosome 18, 31069009: 31069009
33 DSC2 NM_024422.4(DSC2): c.2498G> A (p.Arg833His) single nucleotide variant Conflicting interpretations of pathogenicity rs370325533 GRCh37 Chromosome 18, 28648870: 28648870
34 DSC2 NM_024422.4(DSC2): c.2498G> A (p.Arg833His) single nucleotide variant Conflicting interpretations of pathogenicity rs370325533 GRCh38 Chromosome 18, 31068904: 31068904
35 DSC2 NM_024422.4(DSC2): c.2587G> A (p.Gly863Arg) single nucleotide variant Uncertain significance rs147109895 GRCh37 Chromosome 18, 28648100: 28648100
36 DSC2 NM_024422.4(DSC2): c.2587G> A (p.Gly863Arg) single nucleotide variant Uncertain significance rs147109895 GRCh38 Chromosome 18, 31068134: 31068134
37 DSC2 NM_024422.4(DSC2): c.2616C> T (p.Cys872=) single nucleotide variant Benign/Likely benign rs61731920 GRCh37 Chromosome 18, 28648071: 28648071
38 DSC2 NM_024422.4(DSC2): c.2616C> T (p.Cys872=) single nucleotide variant Benign/Likely benign rs61731920 GRCh38 Chromosome 18, 31068105: 31068105
39 DSC2 NM_024422.3(DSC2): c.2687_2688insGA (p.Ala897Lysfs) duplication Conflicting interpretations of pathogenicity rs200056085 GRCh37 Chromosome 18, 28648000: 28648001
40 DSC2 NM_024422.3(DSC2): c.2687_2688insGA (p.Ala897Lysfs) duplication Conflicting interpretations of pathogenicity rs200056085 GRCh38 Chromosome 18, 31068034: 31068035
41 DSC2 NM_024422.4(DSC2): c.270G> A (p.Glu90=) single nucleotide variant Conflicting interpretations of pathogenicity rs138643506 GRCh37 Chromosome 18, 28672148: 28672148
42 DSC2 NM_024422.4(DSC2): c.270G> A (p.Glu90=) single nucleotide variant Conflicting interpretations of pathogenicity rs138643506 GRCh38 Chromosome 18, 31092185: 31092185
43 DSC2 NM_024422.4(DSC2): c.351A> G (p.Thr117=) single nucleotide variant Conflicting interpretations of pathogenicity rs117812913 GRCh37 Chromosome 18, 28672067: 28672067
44 DSC2 NM_024422.4(DSC2): c.351A> G (p.Thr117=) single nucleotide variant Conflicting interpretations of pathogenicity rs117812913 GRCh38 Chromosome 18, 31092104: 31092104
45 DSC2 NM_004949.4(DSC2): c.304G> A (p.Glu102Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs144799937 GRCh37 Chromosome 18, 28672114: 28672114
46 DSC2 NM_004949.4(DSC2): c.304G> A (p.Glu102Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs144799937 GRCh38 Chromosome 18, 31092151: 31092151
47 DSC2 NM_024422.4(DSC2): c.327A> G (p.Ile109Met) single nucleotide variant Conflicting interpretations of pathogenicity rs373305929 GRCh37 Chromosome 18, 28672091: 28672091
48 DSC2 NM_024422.4(DSC2): c.327A> G (p.Ile109Met) single nucleotide variant Conflicting interpretations of pathogenicity rs373305929 GRCh38 Chromosome 18, 31092128: 31092128
49 DSC2 NM_024422.4(DSC2): c.32A> G (p.Asn11Ser) single nucleotide variant Benign/Likely benign rs868333 GRCh37 Chromosome 18, 28681903: 28681903
50 DSC2 NM_024422.4(DSC2): c.32A> G (p.Asn11Ser) single nucleotide variant Benign/Likely benign rs868333 GRCh38 Chromosome 18, 31101940: 31101940

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

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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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