ARVD11
MCID: ARR027
MIFTS: 45

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 56 73 71
Arrhythmogenic Right Ventricular Dysplasia 11 with Mild Palmoplantar Keratoderma and Woolly Hair 56 73 29 13
Arrhythmogenic Right Ventricular Cardiomyopathy 11 56 12 73
Arrhythmogenic Right Ventricular Dysplasia 11 56 12 15
Arvd11 56 12 73
Arvc11 56 12 73
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, Familial, and Mild Palmoplantar Keratoderma and Woolly Hair 73
Arvd and Mild Palmoplantar Keratoderma with or Without Woolly Hair 73
Arrhythmogenic Right Ventricular Cardiomyopathy 11; Arvc11 56
Familial Arrhythmogenic Right Ventricular Dysplasia 11 12
Dysplasia, Ventricular, Right, Arrhythmogenic, Type 11 39
Arvd11pk 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant

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


HPO:

31
arrhythmogenic right ventricular dysplasia, familial, 11:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110082
OMIM 56 610476
OMIM Phenotypic Series 56 PS107970
ICD10 32 I42.8
UMLS 71 C1864850

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

UniProtKB/Swiss-Prot : 73 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, also known as arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, is related to palmoplantar keratoderma and woolly hair and ectodermal dysplasia/skin fragility syndrome, and has symptoms including dyspnea and syncope. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 is DSC2 (Desmocollin 2), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include heart, skin 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

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

Diseases in the Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 family:

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma and woolly hair 10.0 JUP DSC2
2 ectodermal dysplasia/skin fragility syndrome 10.0 JUP DSC2
3 arrhythmogenic right ventricular dysplasia, familial, 13 9.8 RYR2 PKP2
4 naxos disease 9.8 PKP2 JUP DSC2
5 lung clear cell carcinoma 9.8 DSC3 DSC2
6 acantholytic acanthoma 9.7 DSC3 DSC2
7 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.7 RYR2 PKP2
8 dystonia 3, torsion, x-linked 9.7 DSC3 DSC2
9 cardiac arrhythmia 9.5 RYR2 PKP2 JUP
10 impetigo 9.5 DSG2 DSC3
11 rare cardiomyopathy 9.5 RYR2 PKP2 DSG2
12 heart conduction disease 9.5 RYR2 PKP2
13 ritter's disease 9.5 DSG2 DSC3 DSC2
14 paraneoplastic pemphigus 9.5 DSG2 DSC3 DSC2
15 familial atrial fibrillation 9.5 RYR2 PKP2 DSG2
16 darier-white disease 9.4 JUP DSC3 DSC2
17 bullous skin disease 9.4 DSG2 DSC3 DSC2
18 cellulitis 9.4 DSG2 DSC3 DSC2
19 arrhythmogenic right ventricular dysplasia, familial, 3 9.4 RYR2 PKP2 DSG2 DSC2
20 pemphigus vulgaris, familial 9.3 JUP DSG2 DSC3
21 cardiac arrest 9.3 TMEM43 RYR2 DSG2 DSC2
22 catecholaminergic polymorphic ventricular tachycardia 9.2 TMEM43 RYR2 PKP2 DSG2
23 benign chronic pemphigus 9.1 JUP DSG2 DSC3 DSC2
24 pemphigus 9.1 JUP DSG2 DSC3 DSC2
25 leopard syndrome 9.1 TMEM43 PKP2 JUP DSG2 DSC2
26 long qt syndrome 9.0 TMEM43 RYR2 PKP2 DSG2 DSC2
27 heart disease 9.0 RYR2 PKP2 DSG2 DSC2
28 atrial standstill 1 8.9 RYR2 PKP2 JUP DSG2 DSC2
29 arrhythmogenic right ventricular dysplasia, familial, 1 8.9 TMEM43 RYR2 PKP2 JUP DSG2
30 palmoplantar keratosis 8.8 PKP2 JUP DSG2 DSC3 DSC2
31 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 8.6 TMEM43 RYR2 PKP2 JUP DSG2 DSC2
32 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 8.6 TMEM43 RYR2 PKP2 JUP DSG2 DSC2
33 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 8.6 TMEM43 RYR2 PKP2 JUP DSG2 DSC2
34 left bundle branch hemiblock 8.6 TMEM43 RYR2 PKP2 JUP DSG2 DSC2
35 arrhythmogenic right ventricular dysplasia, familial, 6 8.6 TMEM43 RYR2 PKP2 JUP DSG2 DSC2
36 arrhythmogenic right ventricular dysplasia, familial, 4 8.6 TMEM43 RYR2 PKP2 JUP DSG2 DSC2
37 arrhythmogenic right ventricular dysplasia, familial, 2 8.6 TMEM43 RYR2 PKP2 JUP DSG2 DSC2
38 intrinsic cardiomyopathy 8.6 TMEM43 RYR2 PKP2 JUP DSG2 DSC2
39 left ventricular noncompaction 8.6 TMEM43 RYR2 PKP2 JUP DSG2 DSC2
40 arrhythmogenic right ventricular cardiomyopathy 8.6 TMEM43 RYR2 PKP2 JUP DSG2 DSC2
41 brugada syndrome 8.6 TMEM43 RYR2 PKP2 JUP DSG2 DSC2
42 dilated cardiomyopathy 8.6 TMEM43 RYR2 PKP2 JUP DSG2 DSC2
43 arrhythmogenic right ventricular dysplasia, familial, 12 8.0 TMEM43 RYR2 PKP2 JUP DSG2 DSC3
44 arrhythmogenic right ventricular dysplasia, familial, 10 8.0 TMEM43 RYR2 PKP2 JUP DSG2 DSC3
45 arrhythmogenic right ventricular dysplasia, familial, 9 8.0 TMEM43 RYR2 PKP2 JUP DSG2 DSC3
46 arrhythmogenic right ventricular dysplasia, familial, 8 8.0 TMEM43 RYR2 PKP2 JUP DSG2 DSC3
47 cardiomyopathy, dilated, with woolly hair and keratoderma 8.0 TMEM43 RYR2 PKP2 JUP DSG2 DSC3
48 arrhythmogenic right ventricular dysplasia, familial, 5 8.0 TMEM43 RYR2 PKP2 JUP DSG2 DSC3

Graphical network of the top 20 diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 11:



Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

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

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

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 31 HP:0001645
2 dyspnea 31 HP:0002094
3 palmoplantar keratoderma 31 HP:0000982
4 woolly hair 31 HP:0002224
5 syncope 31 HP:0001279
6 palpitations 31 HP:0001962
7 ventricular arrhythmia 31 HP:0004308
8 right ventricular cardiomyopathy 31 HP:0011663

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 11:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 DSC2 DSG2 JUP LEMD2 PKP2 RYR2
2 mortality/aging MP:0010768 9.5 DSC3 DSG2 JUP LEMD2 PKP2 RYR2
3 muscle MP:0005369 9.02 DSG2 JUP LEMD2 PKP2 RYR2

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:

40
Heart, Skin, Testes, Lung

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. 56 6
20197793 2010
2
Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. 56 6
18957847 2009
3
Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy. 56 6
17186466 2006
4
Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. 56 6
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. 6
27854360 2017
6
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
7
Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. 56
23863954 2013
8
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
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). 6
21810866 2011
10
Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. 56
20172912 2010
11
Arrhythmogenic Right Ventricular Cardiomyopathy 6
20301310 2005
12
Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria. 56
12392835 2002
13
[Radiofrequency catheter ablation of ventricular tachycardia]. 61
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 167) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DSC2 NM_024422.6(DSC2):c.1841del (p.Ser614fs)deletion Pathogenic 31635 rs397514043 18:28654696-28654696 18:31074730-31074730
2 DSC2 NM_024422.6(DSC2):c.1430del (p.Thr477fs)deletion Pathogenic 16848 rs397514041 18:28660152-28660152 18:31080186-31080186
3 DSC2 NM_024422.6(DSC2):c.882dup (p.Phe295fs)duplication Pathogenic 410650 rs1060502989 18:28666598-28666599 18:31086635-31086636
4 DSC2 NC_000018.9:g.(?_28672044)_(28681954_?)deldeletion Pathogenic 468366 18:31092081-31101991
5 DSC2 NM_024422.6(DSC2):c.996T>G (p.Tyr332Ter)SNV Pathogenic 468388 rs1555639134 18:28662973-28662973 18:31083007-31083007
6 DSC2 NM_024422.6(DSC2):c.34_35del (p.Gly12fs)deletion Pathogenic 503979 rs1395367133 18:28681900-28681901 18:31101937-31101938
7 DSC2 NC_000018.9:g.(?_28650672)_(28650836_?)deldeletion Pathogenic 536289 18:28650672-28650836 18:31070706-31070870
8 DSC2 NC_000018.9:g.(?_28654629)_(28673626_?)dupduplication Pathogenic 536290 18:28654629-28673626
9 DSC2 NM_024422.6(DSC2):c.2463C>A (p.Tyr821Ter)SNV Pathogenic 575762 rs1567971476 18:28648905-28648905 18:31068939-31068939
10 DSC2 NM_024422.6(DSC2):c.2186del (p.Pro729fs)deletion Pathogenic 662906 18:28650756-28650756 18:31070790-31070790
11 DSC2 NM_024422.6(DSC2):c.2200C>T (p.Gln734Ter)SNV Pathogenic 568186 rs769022411 18:28650742-28650742 18:31070776-31070776
12 DSC2 NM_024422.6(DSC2):c.943-1G>ASNV Pathogenic/Likely pathogenic 419777 rs796756333 18:28663027-28663027 18:31083061-31083061
13 DSC2 NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter)SNV Pathogenic/Likely pathogenic 162504 rs145476705 18:28667744-28667744 18:31087781-31087781
14 DSC2 NM_024422.6(DSC2):c.749T>C (p.Phe250Ser)SNV Likely pathogenic 523128 rs746173561 18:28667658-28667658 18:31087695-31087695
15 DSC2 NC_000018.9:g.(?_28673502)_(28673626_?)dupduplication Likely pathogenic 536288 18:28673502-28673626 18:31093539-31093663
16 DSC2 NM_024422.6(DSC2):c.777C>T (p.Gly259=)SNV Conflicting interpretations of pathogenicity 468386 rs565694087 18:28666704-28666704 18:31086741-31086741
17 DSC2 NM_024422.6(DSC2):c.2250+3A>GSNV Conflicting interpretations of pathogenicity 468378 rs1555637433 18:28650689-28650689 18:31070723-31070723
18 DSC2 NM_024422.6(DSC2):c.2125+1deldeletion Conflicting interpretations of pathogenicity 199778 rs794728072 18:28651570-28651570 18:31071604-31071604
19 DSC2 NM_024422.6(DSC2):c.2365_2367GGA[1] (p.Gly790del)short repeat Conflicting interpretations of pathogenicity 180319 rs377272752 18:28648998-28649000 18:31069032-31069034
20 DSC2 NM_024422.6(DSC2):c.631-2A>GSNV Conflicting interpretations of pathogenicity 16850 rs397514042 18:28667778-28667778 18:31087815-31087815
21 DSC2 NM_024422.6(DSC2):c.1901G>A (p.Arg634His)SNV Conflicting interpretations of pathogenicity 46172 rs200475862 18:28651795-28651795 18:31071829-31071829
22 DSC2 NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu)SNV Conflicting interpretations of pathogenicity 161223 rs143413607 18:28648897-28648897 18:31068931-31068931
23 DSC2 NM_024422.6(DSC2):c.1521-7C>TSNV Conflicting interpretations of pathogenicity 227337 rs374810953 18:28659962-28659962 18:31079996-31079996
24 DSC2 NM_024422.6(DSC2):c.547C>T (p.Arg183Trp)SNV Conflicting interpretations of pathogenicity 228624 rs368082152 18:28669485-28669485 18:31089522-31089522
25 DSC2 NM_024422.6(DSC2):c.489G>A (p.Thr163=)SNV Conflicting interpretations of pathogenicity 381907 rs752952811 18:28669543-28669543 18:31089580-31089580
26 DSC2 NM_024422.6(DSC2):c.2498G>A (p.Arg833His)SNV Conflicting interpretations of pathogenicity 46182 rs370325533 18:28648870-28648870 18:31068904-31068904
27 DSC2 NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg)SNV Conflicting interpretations of pathogenicity 46183 rs147109895 18:28648100-28648100 18:31068134-31068134
28 DSC2 NM_024422.6(DSC2):c.270G>A (p.Glu90=)SNV Conflicting interpretations of pathogenicity 46187 rs138643506 18:28672148-28672148 18:31092185-31092185
29 DSC2 NM_024422.6(DSC2):c.351A>G (p.Thr117=)SNV Conflicting interpretations of pathogenicity 46188 rs117812913 18:28672067-28672067 18:31092104-31092104
30 DSC2 NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)SNV Conflicting interpretations of pathogenicity 46189 rs144799937 18:28672114-28672114 18:31092151-31092151
31 DSC2 NM_024422.6(DSC2):c.327A>G (p.Ile109Met)SNV Conflicting interpretations of pathogenicity 46190 rs373305929 18:28672091-28672091 18:31092128-31092128
32 DSC2 NM_024422.6(DSC2):c.907G>A (p.Val303Met)SNV Conflicting interpretations of pathogenicity 46202 rs145560678 18:28666574-28666574 18:31086611-31086611
33 DSC2 NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr)SNV Conflicting interpretations of pathogenicity 241471 rs777688726 18:28662935-28662935 18:31082969-31082969
34 DSC2 NM_024422.6(DSC2):c.2353G>A (p.Glu785Lys)SNV Uncertain significance 263563 rs752873618 18:28649015-28649015 18:31069049-31069049
35 DSC2 NM_024422.6(DSC2):c.754A>G (p.Ile252Val)SNV Uncertain significance 264041 rs751996698 18:28667653-28667653 18:31087690-31087690
36 DSC2 NM_024422.6(DSC2):c.2381C>T (p.Ser794Leu)SNV Uncertain significance 373169 rs1617629 18:28648987-28648987 18:31069021-31069021
37 DSC2 NM_024422.6(DSC2):c.2287G>A (p.Ala763Thr)SNV Uncertain significance 373271 rs777004957 18:28649081-28649081 18:31069115-31069115
38 DSC2 NM_024422.6(DSC2):c.2393G>T (p.Arg798Leu)SNV Uncertain significance 46179 rs61731921 18:28648975-28648975 18:31069009-31069009
39 DSC2 NM_024422.6(DSC2):c.865C>T (p.Pro289Ser)SNV Uncertain significance 46200 rs200802591 18:28666616-28666616 18:31086653-31086653
40 DSC2 NM_024422.6(DSC2):c.2683G>A (p.Ala895Thr)SNV Uncertain significance 410646 rs1060502988 18:28648004-28648004 18:31068038-31068038
41 DSC2 NM_024422.6(DSC2):c.1057C>A (p.Pro353Thr)SNV Uncertain significance 410653 rs999869714 18:28662912-28662912 18:31082946-31082946
42 DSC2 NM_024422.6(DSC2):c.142C>T (p.Leu48Phe)SNV Uncertain significance 410649 rs769776739 18:28673534-28673534 18:31093571-31093571
43 DSC2 NM_024422.6(DSC2):c.1910A>G (p.Tyr637Cys)SNV Uncertain significance 410655 rs758990451 18:28651786-28651786 18:31071820-31071820
44 DSC2 NM_024422.6(DSC2):c.1766T>C (p.Met589Thr)SNV Uncertain significance 410648 rs201856473 18:28654771-28654771 18:31074805-31074805
45 DSC2 NM_024422.6(DSC2):c.1192G>A (p.Gly398Ser)SNV Uncertain significance 410652 rs1060502991 18:28662275-28662275 18:31082309-31082309
46 DSC2 NM_024422.6(DSC2):c.772G>A (p.Val258Met)SNV Uncertain significance 410654 rs1060502992 18:28667635-28667635 18:31087672-31087672
47 DSC2 NM_024422.6(DSC2):c.286A>G (p.Ile96Val)SNV Uncertain significance 410656 rs772447450 18:28672132-28672132 18:31092169-31092169
48 DSC2 NM_024422.6(DSC2):c.2603C>T (p.Ser868Phe)SNV Uncertain significance 427964 rs141873745 18:28648084-28648084 18:31068118-31068118
49 DSC2 NM_024422.6(DSC2):c.601G>A (p.Val201Ile)SNV Uncertain significance 430543 rs202058544 18:28669431-28669431 18:31089468-31089468
50 DSC2 NM_024422.6(DSC2):c.2369G>A (p.Gly790Glu)SNV Uncertain significance 432627 rs1555637241 18:28648999-28648999 18:31069033-31069033

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

73
# 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

Pathways related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 PKP2 JUP DSG2 DSC3 DSC2
2
Show member pathways
11.81 PKP2 JUP DSG2 DSC3 DSC2
3
Show member pathways
11.21 RYR2 PKP2 JUP DSG2 DSC2
4 11 RYR2 JUP

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

Cellular components related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.02 TMEM43 RYR2 PKP2 LEMD2 DSG2 DSC3
2 cell junction GO:0030054 9.72 PKP2 JUP DSG2 DSC3 DSC2
3 cell-cell junction GO:0005911 9.65 PKP2 JUP DSG2 DSC3 DSC2
4 cell-cell adherens junction GO:0005913 9.54 PKP2 JUP DSC2
5 adherens junction GO:0005912 9.49 PKP2 JUP
6 lateral plasma membrane GO:0016328 9.46 JUP DSG2
7 intercalated disc GO:0014704 9.46 PKP2 JUP DSG2 DSC2
8 nuclear inner membrane GO:0005637 9.43 TMEM43 LEMD2
9 integral component of nuclear inner membrane GO:0005639 9.4 TMEM43 LEMD2
10 cornified envelope GO:0001533 9.35 PKP2 JUP DSG2 DSC3 DSC2
11 desmosome GO:0030057 9.02 PKP2 JUP DSG2 DSC3 DSC2

Biological processes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.8 PKP2 JUP DSG2 DSC3 DSC2
2 keratinization GO:0031424 9.77 PKP2 JUP DSG2 DSC3 DSC2
3 cell-cell adhesion GO:0098609 9.72 PKP2 JUP DSG2 DSC3 DSC2
4 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.67 DSG2 DSC3 DSC2
5 regulation of heart rate by cardiac conduction GO:0086091 9.56 PKP2 JUP DSG2 DSC2
6 cornification GO:0070268 9.55 PKP2 JUP DSG2 DSC3 DSC2
7 ventricular cardiac muscle cell action potential GO:0086005 9.48 RYR2 PKP2
8 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.46 RYR2 PKP2
9 desmosome assembly GO:0002159 9.43 PKP2 JUP
10 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.26 PKP2 JUP DSG2 DSC2
11 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.02 RYR2 PKP2 JUP DSG2 DSC2

Molecular functions related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.46 RYR2 DSG2 DSC3 DSC2
2 cell adhesion molecule binding GO:0050839 9.32 JUP DSG2
3 protein self-association GO:0043621 9.26 TMEM43 RYR2
4 alpha-catenin binding GO:0045294 8.96 PKP2 JUP
5 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.92 PKP2 JUP DSG2 DSC2

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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