ARVD11
MCID: ARR027
MIFTS: 23

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 recessive inheritance autosomal dominant 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 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 ventricular arrhythmia 33 HP:0004308
7 palpitations 33 HP:0001962
8 right ventricular cardiomyopathy 33 HP:0011663

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
dyspnea
syncope
ventricular arrhythmia
palpitations
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

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

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 351)
# Gene Variation Type Significance SNP ID Assembly Location
1 DSC2 NM_004949.4(DSC2): c.2471C> T (p.Ser824Leu) single nucleotide variant Uncertain significance rs143413607 GRCh37 Chromosome 18, 28648897: 28648897
2 DSC2 NM_004949.4(DSC2): c.2471C> T (p.Ser824Leu) single nucleotide variant Uncertain significance rs143413607 GRCh38 Chromosome 18, 31068931: 31068931
3 DSC2 NM_024422.4(DSC2): c.663T> A (p.Tyr221Ter) single nucleotide variant Pathogenic/Likely pathogenic rs145476705 GRCh37 Chromosome 18, 28667744: 28667744
4 DSC2 NM_024422.4(DSC2): c.663T> A (p.Tyr221Ter) single nucleotide variant Pathogenic/Likely pathogenic rs145476705 GRCh38 Chromosome 18, 31087781: 31087781
5 DSC2 NM_024422.4(DSC2): c.2623C> T (p.Arg875Ter) single nucleotide variant Uncertain significance rs727504823 GRCh38 Chromosome 18, 31068098: 31068098
6 DSC2 NM_024422.4(DSC2): c.2623C> T (p.Arg875Ter) single nucleotide variant Uncertain significance rs727504823 GRCh37 Chromosome 18, 28648064: 28648064
7 DSC2 NM_024422.4(DSC2): c.1775C> T (p.Ala592Val) single nucleotide variant Conflicting interpretations of pathogenicity rs140232809 GRCh37 Chromosome 18, 28654762: 28654762
8 DSC2 NM_024422.4(DSC2): c.1775C> T (p.Ala592Val) single nucleotide variant Conflicting interpretations of pathogenicity rs140232809 GRCh38 Chromosome 18, 31074796: 31074796
9 DSC2 NM_024422.4(DSC2): c.1680G> A (p.Thr560=) single nucleotide variant Benign/Likely benign rs567202599 GRCh37 Chromosome 18, 28654857: 28654857
10 DSC2 NM_024422.4(DSC2): c.1680G> A (p.Thr560=) single nucleotide variant Benign/Likely benign rs567202599 GRCh38 Chromosome 18, 31074891: 31074891
11 DSC2 NM_024422.4(DSC2): c.1537G> T (p.Asp513Tyr) single nucleotide variant Uncertain significance rs373324195 GRCh37 Chromosome 18, 28659939: 28659939
12 DSC2 NM_024422.4(DSC2): c.1537G> T (p.Asp513Tyr) single nucleotide variant Uncertain significance rs373324195 GRCh38 Chromosome 18, 31079973: 31079973
13 DSC2 NM_024422.4(DSC2): c.802A> G (p.Thr268Ala) single nucleotide variant Uncertain significance rs201015785 GRCh37 Chromosome 18, 28666679: 28666679
14 DSC2 NM_024422.4(DSC2): c.802A> G (p.Thr268Ala) single nucleotide variant Uncertain significance rs201015785 GRCh38 Chromosome 18, 31086716: 31086716
15 DSC2 NM_024422.4(DSC2): c.394C> T (p.Arg132Cys) single nucleotide variant Uncertain significance rs727504578 GRCh38 Chromosome 18, 31091108: 31091108
16 DSC2 NM_024422.4(DSC2): c.394C> T (p.Arg132Cys) single nucleotide variant Uncertain significance rs727504578 GRCh37 Chromosome 18, 28671071: 28671071
17 DSC2 NM_024422.4(DSC2): c.172T> G (p.Phe58Val) single nucleotide variant Conflicting interpretations of pathogenicity rs138749562 GRCh37 Chromosome 18, 28672246: 28672246
18 DSC2 NM_024422.4(DSC2): c.172T> G (p.Phe58Val) single nucleotide variant Conflicting interpretations of pathogenicity rs138749562 GRCh38 Chromosome 18, 31092283: 31092283
19 DSC2 NM_024422.4(DSC2): c.1776G> A (p.Ala592=) single nucleotide variant Likely benign rs727502980 GRCh37 Chromosome 18, 28654761: 28654761
20 DSC2 NM_024422.4(DSC2): c.1776G> A (p.Ala592=) single nucleotide variant Likely benign rs727502980 GRCh38 Chromosome 18, 31074795: 31074795
21 DSC2 NM_024422.4(DSC2): c.348A> G (p.Gln116=) single nucleotide variant Likely benign rs137941742 GRCh37 Chromosome 18, 28672070: 28672070
22 DSC2 NM_024422.4(DSC2): c.348A> G (p.Gln116=) single nucleotide variant Likely benign rs137941742 GRCh38 Chromosome 18, 31092107: 31092107
23 DSC2 NM_024422.4(DSC2): c.70-11delT deletion Benign/Likely benign rs572309510 GRCh37 Chromosome 18, 28673617: 28673617
24 DSC2 NM_024422.4(DSC2): c.70-11delT deletion Benign/Likely benign rs572309510 GRCh38 Chromosome 18, 31093654: 31093654
25 DSC2 NM_024422.4(DSC2): c.2497C> T (p.Arg833Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142410803 GRCh38 Chromosome 18, 31068905: 31068905
26 DSC2 NM_024422.4(DSC2): c.2497C> T (p.Arg833Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142410803 GRCh37 Chromosome 18, 28648871: 28648871
27 DSC2 NM_024422.3(DSC2): c.2368_2370delGGA (p.Gly790del) deletion Conflicting interpretations of pathogenicity rs377272752 GRCh38 Chromosome 18, 31069032: 31069034
28 DSC2 NM_024422.3(DSC2): c.2368_2370delGGA (p.Gly790del) deletion Conflicting interpretations of pathogenicity rs377272752 GRCh37 Chromosome 18, 28648998: 28649000
29 DSC2 NM_024422.3(DSC2): c.2368_2370delGGA (p.Gly790del) deletion Conflicting interpretations of pathogenicity rs377272752 NCBI36 Chromosome 18, 26903000: 26903002
30 DSC2 NM_024422.4(DSC2): c.2335G> A (p.Gly779Arg) single nucleotide variant Uncertain significance rs139290300 GRCh38 Chromosome 18, 31069067: 31069067
31 DSC2 NM_024422.4(DSC2): c.2335G> A (p.Gly779Arg) single nucleotide variant Uncertain significance rs139290300 GRCh37 Chromosome 18, 28649033: 28649033
32 DSC2 NM_024422.4(DSC2): c.2314G> A (p.Val772Met) single nucleotide variant Uncertain significance rs146029947 GRCh38 Chromosome 18, 31069088: 31069088
33 DSC2 NM_024422.4(DSC2): c.2314G> A (p.Val772Met) single nucleotide variant Uncertain significance rs146029947 GRCh37 Chromosome 18, 28649054: 28649054
34 DSC2 NM_024422.4(DSC2): c.1070G> A (p.Arg357His) single nucleotide variant Conflicting interpretations of pathogenicity rs201201194 GRCh38 Chromosome 18, 31082933: 31082933
35 DSC2 NM_024422.4(DSC2): c.1070G> A (p.Arg357His) single nucleotide variant Conflicting interpretations of pathogenicity rs201201194 GRCh37 Chromosome 18, 28662899: 28662899
36 DSC2 NM_024422.4(DSC2): c.857G> T (p.Gly286Val) single nucleotide variant Uncertain significance rs199682735 GRCh37 Chromosome 18, 28666624: 28666624
37 DSC2 NM_024422.4(DSC2): c.857G> T (p.Gly286Val) single nucleotide variant Uncertain significance rs199682735 GRCh38 Chromosome 18, 31086661: 31086661
38 DSC2 NM_024422.4(DSC2): c.734A> C (p.Glu245Ala) single nucleotide variant Uncertain significance rs373201722 GRCh37 Chromosome 18, 28667673: 28667673
39 DSC2 NM_024422.4(DSC2): c.734A> C (p.Glu245Ala) single nucleotide variant Uncertain significance rs373201722 GRCh38 Chromosome 18, 31087710: 31087710
40 DSC2 NM_024422.4(DSC2): c.2636A> G (p.Asp879Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs143342988 GRCh37 Chromosome 18, 28648051: 28648051
41 DSC2 NM_024422.4(DSC2): c.2636A> G (p.Asp879Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs143342988 GRCh38 Chromosome 18, 31068085: 31068085
42 DSC2 NM_024422.4(DSC2): c.2318G> C (p.Gly773Ala) single nucleotide variant Uncertain significance rs749174176 GRCh38 Chromosome 18, 31069084: 31069084
43 DSC2 NM_024422.4(DSC2): c.2318G> C (p.Gly773Ala) single nucleotide variant Uncertain significance rs749174176 GRCh37 Chromosome 18, 28649050: 28649050
44 DSC2 NM_024422.4(DSC2): c.2298G> C (p.Gln766His) single nucleotide variant Uncertain significance rs139558481 GRCh38 Chromosome 18, 31069104: 31069104
45 DSC2 NM_024422.4(DSC2): c.2298G> C (p.Gln766His) single nucleotide variant Uncertain significance rs139558481 GRCh37 Chromosome 18, 28649070: 28649070
46 DSC2 NM_004949.4(DSC2): c.2125+1delG deletion Conflicting interpretations of pathogenicity rs794728072 GRCh37 Chromosome 18, 28651570: 28651570
47 DSC2 NM_004949.4(DSC2): c.2125+1delG deletion Conflicting interpretations of pathogenicity rs794728072 GRCh38 Chromosome 18, 31071604: 31071604
48 DSC2 NM_024422.4(DSC2): c.1789G> T (p.Val597Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs143040393 GRCh37 Chromosome 18, 28654748: 28654748
49 DSC2 NM_024422.4(DSC2): c.1789G> T (p.Val597Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs143040393 GRCh38 Chromosome 18, 31074782: 31074782
50 DSC2 NM_024422.4(DSC2): c.370C> T (p.His124Tyr) single nucleotide variant Benign rs371443698 GRCh37 Chromosome 18, 28671095: 28671095

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

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GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

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