ARVD11
MCID: ARR027
MIFTS: 47

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 72 70
Arrhythmogenic Right Ventricular Dysplasia 11 with Mild Palmoplantar Keratoderma and Woolly Hair 57 72 29 13
Arrhythmogenic Right Ventricular Cardiomyopathy 11 57 12 72
Arrhythmogenic Right Ventricular Dysplasia 11 57 12 15
Arvd11 57 12 72
Arvc11 57 12 72
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 72
Arvd and Mild Palmoplantar Keratoderma with or Without Woolly Hair 72
Arrhythmogenic Right Ventricular Cardiomyopathy 11; Arvc11 57
Familial Arrhythmogenic Right Ventricular Dysplasia 11 12
Dysplasia, Ventricular, Right, Arrhythmogenic, Type 11 39
Keratoderma, Palmoplantar 44
Arvd11pk 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 610476
OMIM Phenotypic Series 57 PS107970
ICD10 32 I42.8
UMLS 70 C1864850

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

UniProtKB/Swiss-Prot : 72 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 palmoplantar keratosis, 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. The drug Acitretin has been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are sudden cardiac death and palmoplantar keratoderma

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 Arrhythmogenic Right Ventricular Dysplasia, Familial, 14

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

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma and woolly hair 31.1 JUP DSP DSC2
2 palmoplantar keratosis 30.5 PKP2 JUP DSP DSG2 DSC3 DSC2
3 palmoplantar keratoderma, nonepidermolytic 30.1 TMEM43 RYR2 PKP2 JUP DSP DSG2
4 keratoderma, palmoplantar, with deafness 11.7
5 palmoplantar keratoderma, punctate type ia 11.6
6 palmoplantar keratoderma, epidermolytic 11.5
7 keratosis palmoplantaris striata iii 11.5
8 keratosis palmoplantaris striata ii 11.5
9 palmoplantar keratoderma, bothnian type 11.5
10 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy 11.4
11 palmoplantar keratoderma, nonepidermolytic, focal 1 11.4
12 palmoplantar keratoderma, nagashima type 11.4
13 palmoplantar keratoderma i, striate, focal, or diffuse 11.4
14 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal 11.4
15 palmoplantar keratoderma, punctate type iii 11.2
16 palmoplantar keratoderma, punctate type ii 11.2
17 palmoplantar keratoderma, punctate type ib 11.2
18 palmoplantar keratoderma and congenital alopecia 1 11.1
19 palmoplantar keratoderma, norrbotten recessive type 11.1
20 olmsted syndrome, x-linked 11.1
21 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 11.1
22 palmoplantar keratoderma, nonepidermolytic, focal 2 11.1
23 mutilating palmoplantar keratoderma with periorificial keratotic plaques 11.1
24 punctate porokeratosis 11.1
25 oculodentodigital dysplasia 11.0
26 dystonia 3, torsion, x-linked 10.0 DSC3 DSC2
27 left ventricular noncompaction 1 10.0 PKP2 JUP
28 right bundle branch block 9.9 PKP2 DSG2
29 impetigo 9.9 DSG2 DSC3
30 subcorneal pustular dermatosis 9.8 DSP DSC3
31 familial atrial fibrillation 9.8 RYR2 PKP2 DSG2
32 grover's disease 9.7 JUP DSP
33 epidermolysis bullosa, lethal acantholytic 9.7 JUP DSP
34 cardiomyopathy, dilated, 1h 9.7 TMEM43 DSP DSC2
35 cardiomyopathy, dilated, 1a 9.7 TMEM43 DSP DSC2
36 ventricular fibrillation, paroxysmal familial, 1 9.7 RYR2 DSP
37 diffuse palmoplantar keratoderma 9.7 JUP DSP
38 restrictive cardiomyopathy 9.6 PKP2 DSP DSG2
39 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.6 RYR2 PKP2 DSP
40 ectodermal dysplasia/skin fragility syndrome 9.6 JUP DSP DSC2
41 lmna-related dilated cardiomyopathy 9.6 DSP DSC2
42 familial isolated arrhythmogenic right ventricular dysplasia 9.6 TMEM43 PKP2 DSP DSC2
43 cardiac conduction defect 9.6 RYR2 DSP DSG2
44 cardiac arrest 9.5 RYR2 DSP DSG2
45 benign chronic pemphigus 9.5 JUP DSP DSC3
46 ritter's disease 9.5 DSP DSG2 DSC3 DSC2
47 paraneoplastic pemphigus 9.5 DSP DSG2 DSC3 DSC2
48 bullous skin disease 9.5 DSP DSG2 DSC3 DSC2
49 long qt syndrome 1 9.4 RYR2 PKP2 DSP DSG2
50 darier-white disease 9.4 JUP DSP DSC3 DSC2

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 palmoplantar keratoderma 31 HP:0000982
3 dyspnea 31 HP:0002094
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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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


dyspnea; syncope

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.23 DSC2 DSG2 DSP JUP PKP2 RYR2

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

Drugs for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acitretin Approved 55079-83-9 6437841 5284513

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Evaluation of Oral Acitretin in the Treatment of Psoriasis, Cutaneous Disorders of Keratinization, Multiple Basal Cell Carcinomas and Other Retinoid Responsive Diseases Completed NCT00005660
2 Telangiectatic Palmoplantar Keratoderma in Systemic and Subacute Lupus Erythematosus : to a Form of Lichen Planus-like Lupus Erythematosus ? Active, not recruiting NCT04356014

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

Cochrane evidence based reviews: keratoderma, palmoplantar

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

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

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

(show all 12)
# Title Authors PMID Year
1
Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. 6 57
23863954 2013
2
Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. 57 6
18957847 2009
3
Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy. 6 57
17186466 2006
4
Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. 57 6
17033975 2006
5
Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry). 6
28600387 2017
6
Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members. 6
25820315 2015
7
Mechanistic basis of desmosome-targeted diseases. 6
23911551 2013
8
A novel desmocollin-2 mutation reveals insights into the molecular link between desmosomes and gap junctions. 6
21220045 2011
9
The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy. 57
20197793 2010
10
Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. 57
20172912 2010
11
Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria. 57
12392835 2002
12
[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 397)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DSC2 NM_024422.6(DSC2):c.1841del (p.Ser614fs) Deletion Pathogenic 31635 rs397514043 GRCh37: 18:28654696-28654696
GRCh38: 18:31074730-31074730
2 DSC2 NM_024422.6(DSC2):c.1430del (p.Thr477fs) Deletion Pathogenic 16848 rs397514041 GRCh37: 18:28660152-28660152
GRCh38: 18:31080186-31080186
3 DSC2 NM_024422.6(DSC2):c.882dup (p.Phe295fs) Duplication Pathogenic 410650 rs1060502989 GRCh37: 18:28666598-28666599
GRCh38: 18:31086635-31086636
4 DSC2 NM_024422.6(DSC2):c.996T>G (p.Tyr332Ter) SNV Pathogenic 468388 rs1555639134 GRCh37: 18:28662973-28662973
GRCh38: 18:31083007-31083007
5 DSC2 NC_000018.9:g.(?_28654629)_(28673626_?)dup Duplication Pathogenic 536290 GRCh37: 18:28654629-28673626
GRCh38:
6 DSC2 NM_024422.6(DSC2):c.2200C>T (p.Gln734Ter) SNV Pathogenic 568186 rs769022411 GRCh37: 18:28650742-28650742
GRCh38: 18:31070776-31070776
7 DSC2 NM_024422.6(DSC2):c.2186del (p.Pro729fs) Deletion Pathogenic 662906 rs1598572298 GRCh37: 18:28650756-28650756
GRCh38: 18:31070790-31070790
8 DSC2 NM_024422.6(DSC2):c.268G>T (p.Glu90Ter) SNV Pathogenic 837489 GRCh37: 18:28672150-28672150
GRCh38: 18:31092187-31092187
9 DSC2 NM_024422.6(DSC2):c.1486del (p.Tyr496fs) Deletion Pathogenic 956109 GRCh37: 18:28660096-28660096
GRCh38: 18:31080130-31080130
10 DSC2 and overlap with 1 gene(s) NC_000018.10:g.(?_31092081)_(31101991_?)del Deletion Pathogenic 468366 GRCh37:
GRCh38: 18:31092081-31101991
11 DSC2 NC_000018.10:g.(?_31070706)_(31070870_?)del Deletion Pathogenic 536289 GRCh37: 18:28650672-28650836
GRCh38: 18:31070706-31070870
12 DSC2 NM_024422.6(DSC2):c.1370_1371dup (p.Val458fs) Duplication Pathogenic 852942 GRCh37: 18:28660210-28660211
GRCh38: 18:31080244-31080245
13 DSC2 NM_024422.6(DSC2):c.2463C>A (p.Tyr821Ter) SNV Pathogenic 575762 rs1567971476 GRCh37: 18:28648905-28648905
GRCh38: 18:31068939-31068939
14 DSC2 NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter) SNV Pathogenic 162504 rs145476705 GRCh37: 18:28667744-28667744
GRCh38: 18:31087781-31087781
15 DSC2 NM_024422.6(DSC2):c.943-1G>A SNV Pathogenic 419777 rs796756333 GRCh37: 18:28663027-28663027
GRCh38: 18:31083061-31083061
16 DSCAS , DSC2 NM_024422.6(DSC2):c.34_35del (p.Gly12fs) Deletion Pathogenic 503979 rs1395367133 GRCh37: 18:28681900-28681901
GRCh38: 18:31101937-31101938
17 DSC2 NM_024422.6(DSC2):c.2125+1del Deletion Pathogenic/Likely pathogenic 199778 rs794728072 GRCh37: 18:28651570-28651570
GRCh38: 18:31071604-31071604
18 DSC2 NM_024422.6(DSC2):c.631-2A>G SNV Pathogenic/Likely pathogenic 16850 rs397514042 GRCh37: 18:28667778-28667778
GRCh38: 18:31087815-31087815
19 DSCAS , DSC2 NM_024422.6(DSC2):c.69+2T>C SNV Likely pathogenic 926303 GRCh37: 18:28681864-28681864
GRCh38: 18:31101901-31101901
20 DSC2 NC_000018.10:g.(?_31068005)_(31070860_?)del Deletion Likely pathogenic 831421 GRCh37: 18:28647971-28650826
GRCh38:
21 DSC2 NC_000018.9:g.(?_28673502)_(28673626_?)dup Duplication Likely pathogenic 536288 GRCh37: 18:28673502-28673626
GRCh38: 18:31093539-31093663
22 DSCAS , DSC2 NM_024422.6(DSC2):c.69+2T>G SNV Likely pathogenic 956961 GRCh37: 18:28681864-28681864
GRCh38: 18:31101901-31101901
23 DSC2 NM_024422.6(DSC2):c.474+2T>A SNV Likely pathogenic 961444 GRCh37: 18:28670989-28670989
GRCh38: 18:31091026-31091026
24 DSC2 NM_024422.6(DSC2):c.1664-1G>C SNV Likely pathogenic 860937 GRCh37: 18:28654874-28654874
GRCh38: 18:31074908-31074908
25 DSC2 NM_024422.6(DSC2):c.749T>C (p.Phe250Ser) SNV Likely pathogenic 523128 rs746173561 GRCh37: 18:28667658-28667658
GRCh38: 18:31087695-31087695
26 DSC2 NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu) SNV Conflicting interpretations of pathogenicity 161223 rs143413607 GRCh37: 18:28648897-28648897
GRCh38: 18:31068931-31068931
27 DSC2 NM_024422.6(DSC2):c.408A>G (p.Arg136=) SNV Conflicting interpretations of pathogenicity 234987 rs561653481 GRCh37: 18:28671057-28671057
GRCh38: 18:31091094-31091094
28 DSC2 NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) SNV Conflicting interpretations of pathogenicity 155783 rs561310777 GRCh37: 18:28659917-28659917
GRCh38: 18:31079951-31079951
29 DSC2 NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) SNV Conflicting interpretations of pathogenicity 46183 rs147109895 GRCh37: 18:28648100-28648100
GRCh38: 18:31068134-31068134
30 DSC2 NM_024422.6(DSC2):c.2498G>A (p.Arg833His) SNV Conflicting interpretations of pathogenicity 46182 rs370325533 GRCh37: 18:28648870-28648870
GRCh38: 18:31068904-31068904
31 DSC2 NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) SNV Conflicting interpretations of pathogenicity 178019 rs201015785 GRCh37: 18:28666679-28666679
GRCh38: 18:31086716-31086716
32 DSC2 NM_024422.6(DSC2):c.2365_2367GGA[1] (p.Gly790del) Microsatellite Conflicting interpretations of pathogenicity 180319 rs377272752 GRCh37: 18:28648998-28649000
GRCh38: 18:31069032-31069034
33 DSC2 NM_024422.6(DSC2):c.2430G>A (p.Arg810=) SNV Conflicting interpretations of pathogenicity 326393 rs755276378 GRCh37: 18:28648938-28648938
GRCh38: 18:31068972-31068972
34 DSC2 NM_024422.6(DSC2):c.1521-7C>T SNV Conflicting interpretations of pathogenicity 227337 rs374810953 GRCh37: 18:28659962-28659962
GRCh38: 18:31079996-31079996
35 DSC2 NM_024422.6(DSC2):c.1788G>A (p.Ala596=) SNV Conflicting interpretations of pathogenicity 326397 rs146161960 GRCh37: 18:28654749-28654749
GRCh38: 18:31074783-31074783
36 DSC2 NM_024422.6(DSC2):c.857G>T (p.Gly286Val) SNV Conflicting interpretations of pathogenicity 191623 rs199682735 GRCh37: 18:28666624-28666624
GRCh38: 18:31086661-31086661
37 DSC2 NM_024422.6(DSC2):c.2139G>A (p.Thr713=) SNV Conflicting interpretations of pathogenicity 178017 rs112532429 GRCh37: 18:28650803-28650803
GRCh38: 18:31070837-31070837
38 DSC2 NM_024422.6(DSC2):c.854T>C (p.Ile285Thr) SNV Conflicting interpretations of pathogenicity 326398 rs199918720 GRCh37: 18:28666627-28666627
GRCh38: 18:31086664-31086664
39 DSC2 NM_024422.6(DSC2):c.370C>T (p.His124Tyr) SNV Conflicting interpretations of pathogenicity 199781 rs371443698 GRCh37: 18:28671095-28671095
GRCh38: 18:31091132-31091132
40 DSC2 NM_024422.6(DSC2):c.1914G>C (p.Gln638His) SNV Conflicting interpretations of pathogenicity 46173 rs147742157 GRCh37: 18:28651782-28651782
GRCh38: 18:31071816-31071816
41 DSC2 NM_024422.6(DSC2):c.907G>A (p.Val303Met) SNV Conflicting interpretations of pathogenicity 46202 rs145560678 GRCh37: 18:28666574-28666574
GRCh38: 18:31086611-31086611
42 DSC2 NM_024422.6(DSC2):c.270G>A (p.Glu90=) SNV Conflicting interpretations of pathogenicity 46187 rs138643506 GRCh37: 18:28672148-28672148
GRCh38: 18:31092185-31092185
43 DSC2 NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) SNV Conflicting interpretations of pathogenicity 46189 rs144799937 GRCh37: 18:28672114-28672114
GRCh38: 18:31092151-31092151
44 DSC2 NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) SNV Conflicting interpretations of pathogenicity 36005 rs151024019 GRCh37: 18:28650748-28650748
GRCh38: 18:31070782-31070782
45 DSC2 NM_024422.6(DSC2):c.2398G>T (p.Ala800Ser) SNV Uncertain significance 180113 rs565136635 GRCh37: 18:28648970-28648970
GRCh38: 18:31069004-31069004
46 DSC2 NM_024422.6(DSC2):c.2236G>A (p.Gly746Arg) SNV Uncertain significance 1035025 GRCh37: 18:28650706-28650706
GRCh38: 18:31070740-31070740
47 DSCAS , DSC2 NM_024422.6(DSC2):c.1A>G (p.Met1Val) SNV Uncertain significance 925908 GRCh37: 18:28681934-28681934
GRCh38: 18:31101971-31101971
48 DSC2 NM_024422.6(DSC2):c.812A>T (p.Asp271Val) SNV Uncertain significance 1035511 GRCh37: 18:28666669-28666669
GRCh38: 18:31086706-31086706
49 DSC2 NM_024422.6(DSC2):c.2098A>G (p.Ile700Val) SNV Uncertain significance 1035962 GRCh37: 18:28651598-28651598
GRCh38: 18:31071632-31071632
50 DSC2 NM_024422.6(DSC2):c.2215G>T (p.Val739Leu) SNV Uncertain significance 1036180 GRCh37: 18:28650727-28650727
GRCh38: 18:31070761-31070761

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

72
# 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
12.95 PKP2 JUP DSP DSG2 DSC3 DSC2
2
Show member pathways
11.89 PKP2 JUP DSP DSG2 DSC3 DSC2
3 11.29 RYR2 PKP2 JUP DSP DSG2 DSC2
4 11.08 RYR2 JUP DSP
5 10.83 JUP DSP

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:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.06 TGFB3 RYR2 PKP2 JUP DSP DSG2
2 cell junction GO:0030054 9.8 PKP2 JUP DSP DSG2 DSC3 DSC2
3 cell-cell junction GO:0005911 9.73 PKP2 JUP DSP DSG2 DSC3 DSC2
4 intermediate filament GO:0005882 9.61 PKP2 JUP DSP
5 adherens junction GO:0005912 9.58 PKP2 JUP DSC2
6 intercalated disc GO:0014704 9.55 PKP2 JUP DSP DSG2 DSC2
7 cornified envelope GO:0001533 9.43 PKP2 JUP DSP DSG2 DSC3 DSC2
8 fascia adherens GO:0005916 9.37 JUP DSP
9 desmosome GO:0030057 9.1 PKP2 JUP DSP DSG2 DSC3 DSC2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.85 PKP2 JUP DSG2 DSC3 DSC2
2 keratinization GO:0031424 9.85 PKP2 JUP DSP DSG2 DSC3 DSC2
3 cell-cell adhesion GO:0098609 9.8 PKP2 JUP DSP DSG2 DSC3 DSC2
4 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.69 DSG2 DSC3 DSC2
5 regulation of heart rate by cardiac conduction GO:0086091 9.65 PKP2 JUP DSP DSG2 DSC2
6 cornification GO:0070268 9.63 PKP2 JUP DSP DSG2 DSC3 DSC2
7 desmosome organization GO:0002934 9.58 PKP2 DSP DSG2
8 skin development GO:0043588 9.55 JUP DSP
9 adherens junction organization GO:0034332 9.54 JUP DSP
10 response to progesterone GO:0032570 9.52 TGFB3 DSG2
11 ventricular cardiac muscle cell action potential GO:0086005 9.49 RYR2 PKP2
12 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.48 RYR2 PKP2
13 desmosome assembly GO:0002159 9.43 PKP2 JUP
14 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.35 PKP2 JUP DSP DSG2 DSC2
15 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.1 RYR2 PKP2 JUP DSP 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 9.56 RYR2 DSG2 DSC3 DSC2
2 protein kinase C binding GO:0005080 9.32 PKP2 DSP
3 alpha-catenin binding GO:0045294 9.16 PKP2 JUP
4 cell adhesion molecule binding GO:0050839 9.13 JUP DSP DSG2
5 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.02 PKP2 JUP DSP 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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