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 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
Keratoderma, Palmoplantar 43
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 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 testes, and related phenotypes are dyspnea 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, 11 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, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 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 top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma and woolly hair 32.0 JUP DSC2
2 palmoplantar keratosis 31.1 TMEM43 PKP2 JUP DSG2 DSC3 DSC2
3 palmoplantar keratoderma, nonepidermolytic 30.1 TMEM43 RYR2 PKP2 JUP DSG2 DSC3
4 keratoderma, palmoplantar, with deafness 12.7
5 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy 12.4
6 palmoplantar keratoderma, punctate type ia 12.1
7 palmoplantar keratoderma, epidermolytic 12.1
8 keratosis palmoplantaris striata iii 12.1
9 keratosis palmoplantaris striata ii 12.1
10 palmoplantar keratoderma, bothnian type 12.0
11 palmoplantar keratoderma, nonepidermolytic, focal 1 12.0
12 palmoplantar keratoderma, nagashima type 12.0
13 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal 11.9
14 palmoplantar keratoderma, punctate type ii 11.8
15 palmoplantar keratoderma i, striate, focal, or diffuse 11.6
16 palmoplantar keratoderma, punctate type iii 11.5
17 palmoplantar keratoderma, punctate type ib 11.5
18 palmoplantar keratoderma and congenital alopecia 1 11.3
19 palmoplantar keratoderma, norrbotten recessive type 11.3
20 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, x-linked 11.3
21 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 11.3
22 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 11.3
23 palmoplantar keratoderma, nonepidermolytic, focal 2 11.3
24 punctate porokeratosis 11.3
25 oculodentodigital dysplasia 11.3
26 keratosis 10.2
27 ectodermal dysplasia/skin fragility syndrome 10.0 JUP DSC2
28 dystonia 3, torsion, x-linked 9.9 DSC3 DSC2
29 right bundle branch block 9.8 PKP2 DSG2
30 impetigo 9.7 DSG2 DSC3
31 arrhythmogenic right ventricular dysplasia, familial, 13 9.7 RYR2 PKP2
32 cardiac arrhythmia 9.6 RYR2 PKP2
33 ritter's disease 9.6 DSG2 DSC3 DSC2
34 paraneoplastic pemphigus 9.6 DSG2 DSC3 DSC2
35 benign chronic pemphigus 9.6 JUP DSC3 DSC2
36 darier-white disease 9.6 JUP DSC3 DSC2
37 bullous skin disease 9.6 DSG2 DSC3 DSC2
38 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.6 RYR2 PKP2
39 arrhythmogenic right ventricular dysplasia, familial, 1 9.5 RYR2 PKP2 DSG2
40 long qt syndrome 2 9.5 RYR2 PKP2
41 pemphigus vulgaris, familial 9.4 JUP DSG2 DSC3
42 rare cardiomyopathy 9.3 RYR2 PKP2 DSG2
43 familial atrial fibrillation 9.3 RYR2 PKP2 DSG2
44 heart conduction disease 9.3 RYR2 PKP2
45 pemphigus 9.2 JUP DSG2 DSC3 DSC2
46 arrhythmogenic right ventricular dysplasia, familial, 3 9.2 RYR2 PKP2 DSG2 DSC2
47 cardiac arrest 9.1 TMEM43 RYR2 DSG2 DSC2
48 arrhythmogenic right ventricular dysplasia, familial, 4 8.9 TMEM43 RYR2 PKP2 DSG2 DSC2
49 left bundle branch hemiblock 8.9 TMEM43 RYR2 PKP2 DSG2 DSC2
50 long qt syndrome 8.8 TMEM43 RYR2 PKP2 DSG2 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 dyspnea 31 HP:0002094
2 palmoplantar keratoderma 31 HP:0000982
3 sudden cardiac death 31 HP:0001645
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 9.1 DSC2 DSG2 JUP PKP2 RYR2 TMEM43

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, 69427-46-9 6437841

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, Testes

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. 6 56
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 318) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DSC2 NM_024422.6(DSC2):c.882dup (p.Phe295fs)duplication Pathogenic 410650 rs1060502989 18:28666598-28666599 18:31086635-31086636
2 DSC2 NC_000018.10:g.(?_31092081)_(31101991_?)deldeletion Pathogenic 468366 18:31092081-31101991
3 DSC2 NM_024422.6(DSC2):c.996T>G (p.Tyr332Ter)SNV Pathogenic 468388 rs1555639134 18:28662973-28662973 18:31083007-31083007
4 DSC2 NM_024422.6(DSC2):c.34_35del (p.Gly12fs)deletion Pathogenic 503979 rs1395367133 18:28681900-28681901 18:31101937-31101938
5 DSC2 NC_000018.10:g.(?_31070706)_(31070870_?)deldeletion Pathogenic 536289 18:28650672-28650836 18:31070706-31070870
6 DSC2 NC_000018.9:g.(?_28654629)_(28673626_?)dupduplication Pathogenic 536290 18:28654629-28673626
7 DSC2 NM_024422.6(DSC2):c.2200C>T (p.Gln734Ter)SNV Pathogenic 568186 rs769022411 18:28650742-28650742 18:31070776-31070776
8 DSC2 NM_024422.6(DSC2):c.2463C>A (p.Tyr821Ter)SNV Pathogenic 575762 rs1567971476 18:28648905-28648905 18:31068939-31068939
9 DSC2 NM_024422.6(DSC2):c.2186del (p.Pro729fs)deletion Pathogenic 662906 18:28650756-28650756 18:31070790-31070790
10 DSC2 NM_024422.6(DSC2):c.1370_1371dup (p.Val458fs)duplication Pathogenic 852942 18:28660210-28660211 18:31080244-31080245
11 DSC2 NM_024422.6(DSC2):c.268G>T (p.Glu90Ter)SNV Pathogenic 837489 18:28672150-28672150 18:31092187-31092187
12 DSC2 NM_024422.6(DSC2):c.1430del (p.Thr477fs)deletion Pathogenic 16848 rs397514041 18:28660152-28660152 18:31080186-31080186
13 DSC2 NM_024422.6(DSC2):c.1841del (p.Ser614fs)deletion Pathogenic 31635 rs397514043 18:28654696-28654696 18:31074730-31074730
14 DSC2 NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter)SNV Pathogenic/Likely pathogenic 162504 rs145476705 18:28667744-28667744 18:31087781-31087781
15 DSC2 NM_024422.6(DSC2):c.943-1G>ASNV Pathogenic/Likely pathogenic 419777 rs796756333 18:28663027-28663027 18:31083061-31083061
16 DSC2 NM_024422.6(DSC2):c.749T>C (p.Phe250Ser)SNV Likely pathogenic 523128 rs746173561 18:28667658-28667658 18:31087695-31087695
17 DSC2 NC_000018.9:g.(?_28673502)_(28673626_?)dupduplication Likely pathogenic 536288 18:28673502-28673626 18:31093539-31093663
18 DSC2 NM_024422.6(DSC2):c.1664-1G>CSNV Likely pathogenic 860937 18:28654874-28654874 18:31074908-31074908
19 DSC2 NC_000018.10:g.(?_31068005)_(31070860_?)deldeletion Likely pathogenic 831421 18:28647971-28650826
20 DSC2 NM_024422.6(DSC2):c.1401G>A (p.Glu467=)SNV Conflicting interpretations of pathogenicity 701403 18:28660181-28660181 18:31080215-31080215
21 DSC2 NM_024422.6(DSC2):c.1750A>G (p.Ile584Val)SNV Conflicting interpretations of pathogenicity 629496 rs755041461 18:28654787-28654787 18:31074821-31074821
22 DSC2 NM_024422.6(DSC2):c.777C>T (p.Gly259=)SNV Conflicting interpretations of pathogenicity 468386 rs565694087 18:28666704-28666704 18:31086741-31086741
23 DSC2 NM_024422.6(DSC2):c.2250+3A>GSNV Conflicting interpretations of pathogenicity 468378 rs1555637433 18:28650689-28650689 18:31070723-31070723
24 DSC2 NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr)SNV Conflicting interpretations of pathogenicity 155783 rs561310777 18:28659917-28659917 18:31079951-31079951
25 DSC2 NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu)SNV Conflicting interpretations of pathogenicity 161223 rs143413607 18:28648897-28648897 18:31068931-31068931
26 DSC2 NM_024422.6(DSC2):c.2139G>A (p.Thr713=)SNV Conflicting interpretations of pathogenicity 178017 rs112532429 18:28650803-28650803 18:31070837-31070837
27 DSC2 NM_024422.6(DSC2):c.1775C>T (p.Ala592Val)SNV Conflicting interpretations of pathogenicity 163184 rs140232809 18:28654762-28654762 18:31074796-31074796
28 DSC2 NM_024422.6(DSC2):c.172T>G (p.Phe58Val)SNV Conflicting interpretations of pathogenicity 163193 rs138749562 18:28672246-28672246 18:31092283-31092283
29 DSC2 NM_024422.6(DSC2):c.348A>G (p.Gln116=)SNV Conflicting interpretations of pathogenicity 163192 rs137941742 18:28672070-28672070 18:31092107-31092107
30 DSC2 NM_024422.6(DSC2):c.2498G>A (p.Arg833His)SNV Conflicting interpretations of pathogenicity 46182 rs370325533 18:28648870-28648870 18:31068904-31068904
31 DSC2 NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg)SNV Conflicting interpretations of pathogenicity 46183 rs147109895 18:28648100-28648100 18:31068134-31068134
32 DSC2 NM_024422.6(DSC2):c.270G>A (p.Glu90=)SNV Conflicting interpretations of pathogenicity 46187 rs138643506 18:28672148-28672148 18:31092185-31092185
33 DSC2 NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)SNV Conflicting interpretations of pathogenicity 46189 rs144799937 18:28672114-28672114 18:31092151-31092151
34 DSC2 NM_024422.6(DSC2):c.327A>G (p.Ile109Met)SNV Conflicting interpretations of pathogenicity 46190 rs373305929 18:28672091-28672091 18:31092128-31092128
35 DSC2 NM_024422.6(DSC2):c.907G>A (p.Val303Met)SNV Conflicting interpretations of pathogenicity 46202 rs145560678 18:28666574-28666574 18:31086611-31086611
36 DSC2 NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)SNV Conflicting interpretations of pathogenicity 36005 rs151024019 18:28650748-28650748 18:31070782-31070782
37 DSC2 NM_024422.6(DSC2):c.631-2A>GSNV Conflicting interpretations of pathogenicity 16850 rs397514042 18:28667778-28667778 18:31087815-31087815
38 DSC2 NM_024422.6(DSC2):c.2624G>A (p.Arg875Gln)SNV Conflicting interpretations of pathogenicity 633190 rs535014010 18:28648063-28648063 18:31068097-31068097
39 DSC2 NM_024422.6(DSC2):c.835C>T (p.Arg279Cys)SNV Conflicting interpretations of pathogenicity 36007 rs193922708 18:28666646-28666646 18:31086683-31086683
40 DSC2 NM_024422.6(DSC2):c.1552G>C (p.Val518Leu)SNV Conflicting interpretations of pathogenicity 46169 rs397517394 18:28659924-28659924 18:31079958-31079958
41 DSC2 NM_024422.6(DSC2):c.1729A>G (p.Ile577Val)SNV Conflicting interpretations of pathogenicity 46170 rs201845641 18:28654808-28654808 18:31074842-31074842
42 DSC2 NM_024422.6(DSC2):c.1787C>T (p.Ala596Val)SNV Conflicting interpretations of pathogenicity 46171 rs148185335 18:28654750-28654750 18:31074784-31074784
43 DSC2 NM_024422.6(DSC2):c.1901G>A (p.Arg634His)SNV Conflicting interpretations of pathogenicity 46172 rs200475862 18:28651795-28651795 18:31071829-31071829
44 DSC2 NM_024422.6(DSC2):c.1914G>C (p.Gln638His)SNV Conflicting interpretations of pathogenicity 46173 rs147742157 18:28651782-28651782 18:31071816-31071816
45 DSC2 NM_024422.6(DSC2):c.1971C>A (p.Gly657=)SNV Conflicting interpretations of pathogenicity 46175 rs397517396 18:28651725-28651725 18:31071759-31071759
46 DSC2 NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys)SNV Conflicting interpretations of pathogenicity 180318 rs142410803 18:28648871-28648871 18:31068905-31068905
47 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
48 DSC2 NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly)SNV Conflicting interpretations of pathogenicity 199775 rs143342988 18:28648051-28648051 18:31068085-31068085
49 DSC2 NM_024422.6(DSC2):c.1070G>A (p.Arg357His)SNV Conflicting interpretations of pathogenicity 191622 rs201201194 18:28662899-28662899 18:31082933-31082933
50 DSC2 NM_024422.6(DSC2):c.2125+1deldeletion Conflicting interpretations of pathogenicity 199778 rs794728072 18:28651570-28651570 18:31071604-31071604

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:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.72 PKP2 JUP DSG2 DSC3 DSC2
2 cell-cell junction GO:0005911 9.65 PKP2 JUP DSG2 DSC3 DSC2
3 adherens junction GO:0005912 9.54 PKP2 JUP DSC2
4 intercalated disc GO:0014704 9.46 PKP2 JUP DSG2 DSC2
5 lateral plasma membrane GO:0016328 9.4 JUP DSG2
6 cornified envelope GO:0001533 9.35 PKP2 JUP DSG2 DSC3 DSC2
7 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 12)
# 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 9.69 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 9.49 RYR2 PKP2
8 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.48 RYR2 PKP2
9 desmosome organization GO:0002934 9.46 PKP2 DSG2
10 desmosome assembly GO:0002159 9.43 PKP2 JUP
11 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.26 PKP2 JUP DSG2 DSC2
12 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 9.26 JUP DSG2
3 alpha-catenin binding GO:0045294 8.96 PKP2 JUP
4 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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