MCID: ARR027
MIFTS: 22

Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

Categories: Genetic diseases, Cardiovascular 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 75 73
Arrhythmogenic Right Ventricular Dysplasia 11 with Mild Palmoplantar Keratoderma and Woolly Hair 57 75 13
Arrhythmogenic Right Ventricular Cardiomyopathy 11 57 12 75
Arvd11 57 12 75
Arvc11 57 12 75
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 75
Arvd and Mild Palmoplantar Keratoderma with or Without Woolly Hair 75
Arrhythmogenic Right Ventricular Cardiomyopathy 11; Arvc11 57
Familial Arrhythmogenic Right Ventricular Dysplasia 11 12
Dysplasia, Ventricular, Right, Arrhythmogenic, Type 11 40
Arvd11pk 75

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 recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

UniProtKB/Swiss-Prot : 75 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 palmoplantar keratoderma and syncope

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

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

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

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

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

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

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

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

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

41
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:

75
# Symbol AA change Variation ID SNP ID
1 DSC2 p.Arg203Cys VAR_065687 rs142331975
2 DSC2 p.Ile231Thr VAR_065688
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 247)
# Gene Variation Type Significance SNP ID Assembly Location
1 DSC2 NM_004949.4(DSC2): c.1430delC (p.Thr477Metfs) deletion Pathogenic rs397514041 GRCh37 Chromosome 18, 28660152: 28660152
2 DSC2 NM_004949.4(DSC2): c.1430delC (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.1841delG (p.Ser614Ilefs) deletion Pathogenic rs397514043 GRCh37 Chromosome 18, 28654696: 28654696
6 DSC2 NM_004949.4(DSC2): c.1841delG (p.Ser614Ilefs) deletion Pathogenic rs397514043 GRCh38 Chromosome 18, 31074730: 31074730
7 DSC2 NM_024422.4(DSC2): c.1559T> C (p.Ile520Thr) single nucleotide variant Likely benign rs561310777 GRCh38 Chromosome 18, 31079951: 31079951
8 DSC2 NM_024422.4(DSC2): c.1559T> C (p.Ile520Thr) single nucleotide variant Likely benign rs561310777 GRCh37 Chromosome 18, 28659917: 28659917
9 DSC2 NM_004949.4(DSC2): c.2471C> T (p.Ser824Leu) single nucleotide variant Uncertain significance rs143413607 GRCh37 Chromosome 18, 28648897: 28648897
10 DSC2 NM_004949.4(DSC2): c.2471C> T (p.Ser824Leu) single nucleotide variant Uncertain significance rs143413607 GRCh38 Chromosome 18, 31068931: 31068931
11 DSC2 NM_024422.4(DSC2): c.663T> A (p.Tyr221Ter) single nucleotide variant Pathogenic/Likely pathogenic rs145476705 GRCh37 Chromosome 18, 28667744: 28667744
12 DSC2 NM_024422.4(DSC2): c.663T> A (p.Tyr221Ter) single nucleotide variant Pathogenic/Likely pathogenic rs145476705 GRCh38 Chromosome 18, 31087781: 31087781
13 DSC2 NM_024422.4(DSC2): c.2623C> T (p.Arg875Ter) single nucleotide variant Uncertain significance rs727504823 GRCh37 Chromosome 18, 28648064: 28648064
14 DSC2 NM_024422.4(DSC2): c.2623C> T (p.Arg875Ter) single nucleotide variant Uncertain significance rs727504823 GRCh38 Chromosome 18, 31068098: 31068098
15 DSC2 NM_024422.4(DSC2): c.1775C> T (p.Ala592Val) single nucleotide variant Conflicting interpretations of pathogenicity rs140232809 GRCh37 Chromosome 18, 28654762: 28654762
16 DSC2 NM_024422.4(DSC2): c.1775C> T (p.Ala592Val) single nucleotide variant Conflicting interpretations of pathogenicity rs140232809 GRCh38 Chromosome 18, 31074796: 31074796
17 DSC2 NM_024422.4(DSC2): c.1680G> A (p.Thr560=) single nucleotide variant Benign/Likely benign rs567202599 GRCh37 Chromosome 18, 28654857: 28654857
18 DSC2 NM_024422.4(DSC2): c.1680G> A (p.Thr560=) single nucleotide variant Benign/Likely benign rs567202599 GRCh38 Chromosome 18, 31074891: 31074891
19 DSC2 NM_024422.4(DSC2): c.1537G> T (p.Asp513Tyr) single nucleotide variant Uncertain significance rs373324195 GRCh37 Chromosome 18, 28659939: 28659939
20 DSC2 NM_024422.4(DSC2): c.1537G> T (p.Asp513Tyr) single nucleotide variant Uncertain significance rs373324195 GRCh38 Chromosome 18, 31079973: 31079973
21 DSC2 NM_024422.4(DSC2): c.802A> G (p.Thr268Ala) single nucleotide variant Uncertain significance rs201015785 GRCh37 Chromosome 18, 28666679: 28666679
22 DSC2 NM_024422.4(DSC2): c.802A> G (p.Thr268Ala) single nucleotide variant Uncertain significance rs201015785 GRCh38 Chromosome 18, 31086716: 31086716
23 DSC2 NM_024422.4(DSC2): c.394C> T (p.Arg132Cys) single nucleotide variant Uncertain significance rs727504578 GRCh37 Chromosome 18, 28671071: 28671071
24 DSC2 NM_024422.4(DSC2): c.394C> T (p.Arg132Cys) single nucleotide variant Uncertain significance rs727504578 GRCh38 Chromosome 18, 31091108: 31091108
25 DSC2 NM_024422.4(DSC2): c.172T> G (p.Phe58Val) single nucleotide variant Conflicting interpretations of pathogenicity rs138749562 GRCh37 Chromosome 18, 28672246: 28672246
26 DSC2 NM_024422.4(DSC2): c.172T> G (p.Phe58Val) single nucleotide variant Conflicting interpretations of pathogenicity rs138749562 GRCh38 Chromosome 18, 31092283: 31092283
27 DSC2 NM_024422.4(DSC2): c.1776G> A (p.Ala592=) single nucleotide variant Likely benign rs727502980 GRCh37 Chromosome 18, 28654761: 28654761
28 DSC2 NM_024422.4(DSC2): c.1776G> A (p.Ala592=) single nucleotide variant Likely benign rs727502980 GRCh38 Chromosome 18, 31074795: 31074795
29 DSC2 NM_024422.4(DSC2): c.348A> G (p.Gln116=) single nucleotide variant Likely benign rs137941742 GRCh38 Chromosome 18, 31092107: 31092107
30 DSC2 NM_024422.4(DSC2): c.348A> G (p.Gln116=) single nucleotide variant Likely benign rs137941742 GRCh37 Chromosome 18, 28672070: 28672070
31 DSC2 NM_024422.4(DSC2): c.70-11delT deletion Benign/Likely benign rs572309510 GRCh37 Chromosome 18, 28673617: 28673617
32 DSC2 NM_024422.4(DSC2): c.70-11delT deletion Benign/Likely benign rs572309510 GRCh38 Chromosome 18, 31093654: 31093654
33 DSC2 NM_024422.4(DSC2): c.2497C> T (p.Arg833Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142410803 GRCh38 Chromosome 18, 31068905: 31068905
34 DSC2 NM_024422.4(DSC2): c.2497C> T (p.Arg833Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142410803 GRCh37 Chromosome 18, 28648871: 28648871
35 DSC2 NM_024422.3(DSC2): c.2368_2370delGGA (p.Gly790del) deletion Conflicting interpretations of pathogenicity rs377272752 GRCh38 Chromosome 18, 31069032: 31069034
36 DSC2 NM_024422.3(DSC2): c.2368_2370delGGA (p.Gly790del) deletion Conflicting interpretations of pathogenicity rs377272752 GRCh37 Chromosome 18, 28648998: 28649000
37 DSC2 NM_024422.3(DSC2): c.2368_2370delGGA (p.Gly790del) deletion Conflicting interpretations of pathogenicity rs377272752 NCBI36 Chromosome 18, 26903000: 26903002
38 DSC2 NM_024422.4(DSC2): c.2335G> A (p.Gly779Arg) single nucleotide variant Uncertain significance rs139290300 GRCh38 Chromosome 18, 31069067: 31069067
39 DSC2 NM_024422.4(DSC2): c.2335G> A (p.Gly779Arg) single nucleotide variant Uncertain significance rs139290300 GRCh37 Chromosome 18, 28649033: 28649033
40 DSC2 NM_024422.4(DSC2): c.2314G> A (p.Val772Met) single nucleotide variant Uncertain significance rs146029947 GRCh38 Chromosome 18, 31069088: 31069088
41 DSC2 NM_024422.4(DSC2): c.2314G> A (p.Val772Met) single nucleotide variant Uncertain significance rs146029947 GRCh37 Chromosome 18, 28649054: 28649054
42 DSC2 NM_024422.4(DSC2): c.1070G> A (p.Arg357His) single nucleotide variant Conflicting interpretations of pathogenicity rs201201194 GRCh38 Chromosome 18, 31082933: 31082933
43 DSC2 NM_024422.4(DSC2): c.1070G> A (p.Arg357His) single nucleotide variant Conflicting interpretations of pathogenicity rs201201194 GRCh37 Chromosome 18, 28662899: 28662899
44 DSC2 NM_024422.4(DSC2): c.734A> C (p.Glu245Ala) single nucleotide variant Uncertain significance rs373201722 GRCh37 Chromosome 18, 28667673: 28667673
45 DSC2 NM_024422.4(DSC2): c.734A> C (p.Glu245Ala) single nucleotide variant Uncertain significance rs373201722 GRCh38 Chromosome 18, 31087710: 31087710
46 DSC2 NM_024422.4(DSC2): c.2636A> G (p.Asp879Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs143342988 GRCh37 Chromosome 18, 28648051: 28648051
47 DSC2 NM_024422.4(DSC2): c.2636A> G (p.Asp879Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs143342988 GRCh38 Chromosome 18, 31068085: 31068085
48 DSC2 NM_024422.4(DSC2): c.2318G> C (p.Gly773Ala) single nucleotide variant Uncertain significance rs749174176 GRCh38 Chromosome 18, 31069084: 31069084
49 DSC2 NM_024422.4(DSC2): c.2318G> C (p.Gly773Ala) single nucleotide variant Uncertain significance rs749174176 GRCh37 Chromosome 18, 28649050: 28649050
50 DSC2 NM_024422.4(DSC2): c.2125+1delG deletion Conflicting interpretations of pathogenicity rs794728072 GRCh37 Chromosome 18, 28651570: 28651570

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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