ARVD9
MCID: ARR023
MIFTS: 47

Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 (ARVD9)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 57 72 37 70
Arrhythmogenic Right Ventricular Dysplasia 9 57 12 29 13 6 15
Arrhythmogenic Right Ventricular Cardiomyopathy 9 57 12 72
Arvd9 57 12 72
Arvc9 57 12 72
Arrhythmogenic Right Ventricular Cardiomyopathy 9; Arvc9 57
Familial Arrhythmogenic Right Ventricular Dysplasia 9 12
Dysplasia, Arrhythmogenic Right Ventricular, Type 9 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
arrhythmogenic right ventricular dysplasia, familial, 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110077
OMIM® 57 609040
OMIM Phenotypic Series 57 PS107970
MeSH 44 D019571
ICD10 32 I42.8
MedGen 41 C1836906
UMLS 70 C1836906

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

UniProtKB/Swiss-Prot : 72 Arrhythmogenic right ventricular dysplasia, familial, 9: 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, 9, also known as arrhythmogenic right ventricular dysplasia 9, is related to cardiomyopathy, familial hypertrophic, 18 and emery-dreifuss muscular dystrophy 5, autosomal dominant, and has symptoms including syncope An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 is PKP2 (Plakophilin 2), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include heart and skin, and related phenotypes are sudden cardiac death and syncope

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutations in the PKP2 gene on chromosome 12p11.

More information from OMIM: 609040 PS107970

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

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 Arrhythmogenic Right Ventricular Dysplasia, Familial, 14

Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic, 18 10.3 PLN CEP85L
2 emery-dreifuss muscular dystrophy 5, autosomal dominant 10.2 TMEM43 LMNA
3 emery-dreifuss muscular dystrophy 3, autosomal recessive 10.1 TMEM43 LMNA
4 emery-dreifuss muscular dystrophy 4, autosomal dominant 10.1 TMEM43 LMNA
5 ventricular fibrillation, paroxysmal familial, 1 10.1 RYR2 DSP
6 left ventricular noncompaction 1 10.1 PKP2 JUP
7 charcot-marie-tooth disease, axonal, type 2b1 10.1 TMEM43 LMNA
8 grover's disease 10.1 JUP DSP
9 emery-dreifuss muscular dystrophy 1, x-linked 10.1 TMEM43 LMNA
10 epidermolysis bullosa, lethal acantholytic 10.1 JUP DSP
11 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.1 RYR2 PKP2 DSP
12 cardiomyopathy, dilated, 1e 10.1 PKP2 LMNA DSP
13 diffuse palmoplantar keratoderma 10.1 JUP DSP
14 myopathy, x-linked, with postural muscle atrophy 10.1 TMEM43 LMNA
15 lmna-related dilated cardiomyopathy 10.1 LMNA DSP DSC2
16 hair disease 10.0 LMNA DSP DSC2
17 cardiomyopathy, dilated, 1p 10.0 PLN CEP85L
18 subcorneal pustular dermatosis 10.0 DSP DSC3
19 palmoplantar keratoderma and woolly hair 9.9 JUP DSP DSC2
20 ectodermal dysplasia/skin fragility syndrome 9.9 JUP DSP DSC2
21 familial isolated arrhythmogenic right ventricular dysplasia 9.9 TMEM43 PKP2 DSP DSC2
22 dystonia 3, torsion, x-linked 9.9 DSC3 DSC2
23 cardiomyopathy, dilated, 1h 9.9 TMEM43 LMNA DSP DSC2
24 restrictive cardiomyopathy 9.9 PKP2 LMNA DSP DSG2
25 cardiomyopathy, dilated, 1a 9.9 TMEM43 LMNA DSP DSC2
26 long qt syndrome 1 9.8 RYR2 PKP2 DSP DSG2
27 familial atrial fibrillation 9.8 RYR2 PKP2 DSG2
28 cardiac arrhythmia 9.8 RYR2 PKP2 JUP DSP
29 right bundle branch block 9.8 PKP2 DSG2
30 benign chronic pemphigus 9.8 JUP DSP DSC3
31 impetigo 9.8 DSG2 DSC3
32 cardiac arrest 9.7 RYR2 PLN DSP DSG2 CEP85L
33 cardiac conduction defect 9.7 RYR2 LMNA DSP DSG2 CEP85L
34 skin disease 9.7 LMNA DSP DSG2 DSC3
35 ritter's disease 9.7 DSP DSG2 DSC3 DSC2
36 paraneoplastic pemphigus 9.7 DSP DSG2 DSC3 DSC2
37 bullous skin disease 9.7 DSP DSG2 DSC3 DSC2
38 darier-white disease 9.6 JUP DSP DSC3 DSC2
39 pemphigus vulgaris, familial 9.6 JUP DSP DSG2 DSC3
40 arrhythmogenic right ventricular dysplasia, familial, 3 9.5 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
41 arrhythmogenic right ventricular dysplasia, familial, 1 9.5 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
42 arrhythmogenic right ventricular dysplasia, familial, 13 9.5 TGFB3 RYR2 RPSA PKP2 DSP
43 pemphigus 9.4 JUP DSP DSG2 DSC3 DSC2
44 left bundle branch hemiblock 9.4 TMEM43 RYR2 PKP2 LMNA DSP DSG2
45 intrinsic cardiomyopathy 9.3 TMEM43 RYR2 PKP2 LMNA DSP DSG2
46 catecholaminergic polymorphic ventricular tachycardia 9.3 TMEM43 RYR2 PKP2 LMNA DSP DSG2
47 heart conduction disease 9.3 TMEM43 RYR2 PKP2 LMNA DSP DSG2
48 long qt syndrome 9.3 TMEM43 RYR2 PKP2 LMNA DSP DSG2
49 palmoplantar keratosis 9.3 PKP2 JUP DSP DSG2 DSC3 DSC2
50 arrhythmogenic right ventricular dysplasia, familial, 6 9.0 TMEM43 TGFB3 RYR2 PKP2 JUP DSP

Graphical network of the top 20 diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:



Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 31 HP:0001645
2 syncope 31 HP:0001279
3 palpitations 31 HP:0001962
4 ventricular arrhythmia 31 HP:0004308
5 dilatation of the ventricular cavity 31 HP:0006698
6 right ventricular cardiomyopathy 31 HP:0011663
7 vascular dilatation 31 HP:0002617

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
sudden cardiac death
syncope
palpitations
ventricular arrhythmia
cardiomyopathy, right ventricular
more

Clinical features from OMIM®:

609040 (Updated 20-May-2021)

UMLS symptoms related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:


syncope

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 DSC2 DSG2 DSP JUP LMNA PKP2
2 mortality/aging MP:0010768 9.65 DSC3 DSG2 DSP JUP LMNA PKP2
3 muscle MP:0005369 9.1 DSG2 DSP JUP LMNA PKP2 RYR2

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Dysplasia 9 29 PKP2

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

40
Heart, Skin

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Articles related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

(show top 50) (show all 82)
# Title Authors PMID Year
1
Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. 6 57
16549640 2006
2
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. 57 6
15489853 2004
3
Usefulness of Genetic Study by Next-generation Sequencing in High-risk Arrhythmogenic Cardiomyopathy. 6
29606362 2018
4
Genetic basis of channelopathies and cardiomyopathies in Hong Kong Chinese patients: a 10-year regional laboratory experience. 6
29497013 2018
5
Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice. 6
29511324 2018
6
No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy. 6
30161220 2018
7
Exploring digenic inheritance in arrhythmogenic cardiomyopathy. 6
29221435 2017
8
Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy. 6
28416588 2017
9
Large Genomic Rearrangements of Desmosomal Genes in Italian Arrhythmogenic Cardiomyopathy Patients. 6
29038103 2017
10
Implantable Cardioverter-Defibrillator Therapy in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Predictors of Appropriate Therapy, Outcomes, and Complications. 6
28588093 2017
11
Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry). 6
28600387 2017
12
Quantitative analysis of PKP2 and neighbouring genes in a patient with arrhythmogenic right ventricular cardiomyopathy caused by heterozygous PKP2 deletion. 6
28431057 2017
13
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 6
27532257 2017
14
Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis. 6
28069705 2017
15
Homozygous PKP2 deletion associated with neonatal left ventricle noncompaction. 6
27030002 2017
16
Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young. 6
27114410 2016
17
Loss of plakoglobin immunoreactivity in intercalated discs in arrhythmogenic right ventricular cardiomyopathy: protein mislocalization versus epitope masking. 6
26676851 2016
18
Arrhythmogenic Right Ventricular Cardiomyopathy - 4 Swedish families with an associated PKP2 c.2146-1G>C variant. 6
27335691 2016
19
Patient Outcomes From a Specialized Inherited Arrhythmia Clinic. 6
26743238 2016
20
[The clinical analysis of plakophilin-2 gene mutation in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia]. 6
26887364 2015
21
Novel frame-shift mutation in PKP2 associated with arrhythmogenic right ventricular cardiomyopathy: a case report. 6
26701096 2015
22
Comprehensive analysis of desmosomal gene mutations in Han Chinese patients with arrhythmogenic right ventricular cardiomyopathy. 6
25765472 2015
23
Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers. 6
25616645 2015
24
Sequenom MassARRAY approach in the arrhythmogenic right ventricular cardiomyopathy post-mortem setting: clinical and forensic implications. 6
24832006 2015
25
Assessment of HaloPlex amplification for sequence capture and massively parallel sequencing of arrhythmogenic right ventricular cardiomyopathy-associated genes. 6
25445213 2015
26
Post-mortem genetic analysis in juvenile cases of sudden cardiac death. 6
25447171 2014
27
Plakoglobin immunolocalization as a diagnostic test for arrhythmogenic right ventricular cardiomyopathy. 6
25196244 2014
28
Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy. 6
25087486 2014
29
Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy. 6
25157032 2014
30
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. 6
24784157 2014
31
Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis. 6
24704780 2014
32
Arrhythmogenic right ventricular dysplasia/cardiomyopathy and cardiac sarcoidosis: distinguishing features when the diagnosis is unclear. 6
24585727 2014
33
Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy. 6
24967631 2014
34
Modeling of arrhythmogenic right ventricular cardiomyopathy with human induced pluripotent stem cells. 6
24200905 2013
35
Mutation-positive arrhythmogenic right ventricular dysplasia/cardiomyopathy: the triangle of dysplasia displaced. 6
23889974 2013
36
Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy. 6
24070718 2013
37
Correlation of ventricular arrhythmias with genotype in arrhythmogenic right ventricular cardiomyopathy. 6
24125834 2013
38
Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy. 6
23486541 2013
39
TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations. 6
23812740 2013
40
Mechanistic basis of desmosome-targeted diseases. 6
23911551 2013
41
Exercise testing in asymptomatic gene carriers exposes a latent electrical substrate of arrhythmogenic right ventricular cardiomyopathy. 6
23810883 2013
42
Arrhythmogenic right ventricular dysplasia/cardiomyopathy according to revised 2010 task force criteria with inclusion of non-desmosomal phospholamban mutation carriers. 6
23871674 2013
43
Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. 6
23863954 2013
44
Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 6
23671136 2013
45
Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy. 6
22889254 2013
46
Studying arrhythmogenic right ventricular dysplasia with patient-specific iPSCs. 57
23354045 2013
47
A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome. 6
23307527 2013
48
An adolescent with possible arrhythmogenic right ventricular dysplasia and long QT syndrome: evaluation and management. 6
23347029 2013
49
Age-dependent clinical and genetic characteristics in Japanese patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. 6
23514727 2013
50
Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations. 6
22781308 2012

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

6 (show top 50) (show all 595)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PKP2 NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) SNV Pathogenic 6754 rs121434420 GRCh37: 12:33031955-33031955
GRCh38: 12:32879021-32879021
2 PKP2 NM_001005242.3(PKP2):c.2014-1G>C SNV Pathogenic 6756 rs193922674 GRCh37: 12:32955491-32955491
GRCh38: 12:32802557-32802557
3 PKP2 NM_001005242.3(PKP2):c.2357+1G>A SNV Pathogenic 6757 rs111517471 GRCh37: 12:32949042-32949042
GRCh38: 12:32796108-32796108
4 PKP2 NM_001005242.3(PKP2):c.1170+1G>A SNV Pathogenic 188657 rs786204392 GRCh37: 12:33021860-33021860
GRCh38: 12:32868926-32868926
5 PKP2 NM_004572.3(PKP2):c.368G>A (p.Trp123Ter) SNV Pathogenic 196395 rs760576804 GRCh37: 12:33031446-33031446
GRCh38: 12:32878512-32878512
6 PKP2 NM_001005242.2(PKP2):c.148_151del (p.Thr50fs) Deletion Pathogenic 45028 rs397516997 GRCh37: 12:33049515-33049518
GRCh38: 12:32896581-32896584
7 PKP2 NM_001005242.2(PKP2):c.2066_2071delinsG (p.His689fs) Indel Pathogenic 239956 rs878854710 GRCh37: 12:32955433-32955438
GRCh38: 12:32802499-32802504
8 PKP2 NM_004572.3(PKP2):c.1643del (p.Gly548fs) Deletion Pathogenic 202035 rs794729137 GRCh37: 12:32994007-32994007
GRCh38: 12:32841073-32841073
9 PKP2 NM_004572.3(PKP2):c.2146-?_2489+?del Deletion Pathogenic 254051 GRCh37: 12:32949043-32955490
GRCh38: 12:32796109-32802556
10 PKP2 NM_004572.3(PKP2):c.2386T>C (p.Cys796Arg) SNV Pathogenic 201965 rs794729098 GRCh37: 12:32949146-32949146
GRCh38: 12:32796212-32796212
11 PKP2 NM_001005242.2(PKP2):c.1949_1951delinsATCGCCAAAA (p.Val650fs) Indel Pathogenic 406554 rs1064792929 GRCh37: 12:32974352-32974354
GRCh38: 12:32821418-32821420
12 PKP2 NM_004572.3(PKP2):c.1757del (p.Leu586fs) Deletion Pathogenic 406545 rs1060501182 GRCh37: 12:32977028-32977028
GRCh38: 12:32824094-32824094
13 PKP2 NM_004572.3(PKP2):c.275T>A (p.Leu92Ter) SNV Pathogenic 202026 rs763639737 GRCh37: 12:33031915-33031915
GRCh38: 12:32878981-32878981
14 PKP2 NM_004572.3(PKP2):c.1725_1728dup (p.Arg577fs) Duplication Pathogenic 406551 rs1555143134 GRCh37: 12:32977056-32977057
GRCh38: 12:32824122-32824123
15 PKP2 NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) SNV Pathogenic 36680 rs193922672 GRCh37: 12:32994037-32994037
GRCh38: 12:32841103-32841103
16 PKP2 NM_001005242.2(PKP2):c.2377del (p.Ser793fs) Deletion Pathogenic 177995 rs727504432 GRCh37: 12:32945646-32945646
GRCh38: 12:32792712-32792712
17 PKP2 NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) SNV Pathogenic 45016 rs372827156 GRCh37: 12:33003841-33003841
GRCh38: 12:32850907-32850907
18 PKP2 NM_004572.3(PKP2):c.837_838del (p.Val280fs) Deletion Pathogenic 202015 rs772220644 GRCh37: 12:33030976-33030977
GRCh38: 12:32878042-32878043
19 PKP2 NM_004572.3(PKP2):c.929_951dup (p.His318fs) Duplication Pathogenic 406552 rs1064792927 GRCh37: 12:33030862-33030863
GRCh38: 12:32877928-32877929
20 PKP2 NC_000012.12:g.(?_32877846)_(32879032_?)del Deletion Pathogenic 417386 GRCh37: 12:33030780-33031966
GRCh38: 12:32877846-32879032
21 PKP2 NM_004572.3(PKP2):c.1844C>T (p.Ser615Phe) SNV Pathogenic 406555 rs1060501186 GRCh37: 12:32975528-32975528
GRCh38: 12:32822594-32822594
22 PKP2 NM_004572.3(PKP2):c.1125_1132del (p.Phe376fs) Deletion Pathogenic 202016 rs794729124 GRCh37: 12:33021899-33021906
GRCh38: 12:32868965-32868972
23 PKP2 NM_004572.3(PKP2):c.68del (p.Gly23fs) Deletion Pathogenic 464431 rs1555149975 GRCh37: 12:33049598-33049598
GRCh38: 12:32896664-32896664
24 PKP2 NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) SNV Pathogenic 45049 rs397517012 GRCh37: 12:32975460-32975460
GRCh38: 12:32822526-32822526
25 PKP2 NC_000012.11:g.(?_33003694)_(33003913_?)del Deletion Pathogenic 464405 GRCh37: 12:33003694-33003913
GRCh38:
26 PKP2 NM_004572.3(PKP2):c.775G>T (p.Glu259Ter) SNV Pathogenic 464432 rs1425855043 GRCh37: 12:33031039-33031039
GRCh38: 12:32878105-32878105
27 PKP2 NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) Indel Pathogenic 45063 rs397517021 GRCh37: 12:32955434-32955439
GRCh38: 12:32802500-32802505
28 PKP2 NM_001005242.3(PKP2):c.337-2A>T SNV Pathogenic 188654 rs786204389 GRCh37: 12:33031479-33031479
GRCh38: 12:32878545-32878545
29 PKP2 NM_004572.3(PKP2):c.1252del (p.Ala418fs) Deletion Pathogenic 464409 rs1555145509 GRCh37: 12:33003826-33003826
GRCh38: 12:32850892-32850892
30 PKP2 NC_000012.11:g.(?_32945338)_(32977116_?)del Deletion Pathogenic 464403 GRCh37: 12:32945338-32977116
GRCh38:
31 PKP2 NM_004572.3(PKP2):c.2554del (p.Glu852fs) Deletion Pathogenic 464426 rs1353074803 GRCh37: 12:32945601-32945601
GRCh38: 12:32792667-32792667
32 PKP2 NM_004572.3(PKP2):c.663C>A (p.Tyr221Ter) SNV Pathogenic 201976 rs767987619 GRCh37: 12:33031151-33031151
GRCh38: 12:32878217-32878217
33 PKP2 NM_001005242.3(PKP2):c.1211dup (p.Val406fs) Duplication Pathogenic 45015 rs397516989 GRCh37: 12:33003866-33003867
GRCh38: 12:32850932-32850933
34 PKP2 NM_004572.3(PKP2):c.1951C>T (p.Arg651Ter) SNV Pathogenic 201998 rs751288871 GRCh37: 12:32975421-32975421
GRCh38: 12:32822487-32822487
35 PKP2 NM_004572.3(PKP2):c.1848C>A (p.Tyr616Ter) SNV Pathogenic 518250 rs1486464304 GRCh37: 12:32975524-32975524
GRCh38: 12:32822590-32822590
36 PKP2 NM_004572.3(PKP2):c.397C>T (p.Gln133Ter) SNV Pathogenic 202027 rs794729132 GRCh37: 12:33031417-33031417
GRCh38: 12:32878483-32878483
37 PKP2 NM_004572.3(PKP2):c.1952_1955dup (p.Ser652fs) Duplication Pathogenic 45051 rs397517013 GRCh37: 12:32975416-32975417
GRCh38: 12:32822482-32822483
38 PKP2 NM_004572.3(PKP2):c.951del (p.His318fs) Deletion Pathogenic 533041 rs1555148048 GRCh37: 12:33030863-33030863
GRCh38: 12:32877929-32877929
39 PKP2 NM_004572.3(PKP2):c.623del (p.Thr208fs) Deletion Pathogenic 202013 rs794729122 GRCh37: 12:33031191-33031191
GRCh38: 12:32878257-32878257
40 PKP2 NM_004572.3(PKP2):c.2028G>A (p.Trp676Ter) SNV Pathogenic 36682 rs193922673 GRCh37: 12:32974407-32974407
GRCh38: 12:32821473-32821473
41 PKP2 NM_004572.3(PKP2):c.1542del (p.Lys514fs) Deletion Pathogenic 568301 rs1565586958 GRCh37: 12:32994108-32994108
GRCh38: 12:32841174-32841174
42 PKP2 NM_004572.3(PKP2):c.224-1639_274del Deletion Pathogenic 572940 GRCh37: 12:33031916-33033605
GRCh38: 12:32878982-32880671
43 PKP2 NM_004572.3(PKP2):c.1664del (p.Phe555fs) Deletion Pathogenic 202019 rs794729127 GRCh37: 12:32993986-32993986
GRCh38: 12:32841052-32841052
44 PKP2 NM_004572.3(PKP2):c.499C>T (p.Gln167Ter) SNV Pathogenic 577307 rs1565599473 GRCh37: 12:33031315-33031315
GRCh38: 12:32878381-32878381
45 PKP2 NM_004572.3(PKP2):c.1566dup (p.Ala523fs) Duplication Pathogenic 580783 rs1565586921 GRCh37: 12:32994083-32994084
GRCh38: 12:32841149-32841150
46 PKP2 NC_000012.12:g.(?_32824025)_(32824182_?)del Deletion Pathogenic 583904 GRCh37: 12:32976959-32977116
GRCh38: 12:32824025-32824182
47 PKP2 NC_000012.12:g.(?_32792404)_(32896751_?)del Deletion Pathogenic 584074 GRCh37: 12:32945338-33049685
GRCh38: 12:32792404-32896751
48 PKP2 NC_000012.12:g.(?_32802383)_(32802576_?)del Deletion Pathogenic 584148 GRCh37: 12:32955317-32955510
GRCh38: 12:32802383-32802576
49 PKP2 NM_004572.3(PKP2):c.1689-1G>C SNV Pathogenic 201989 rs78897684 GRCh37: 12:32977097-32977097
GRCh38: 12:32824163-32824163
50 PKP2 NM_004572.3(PKP2):c.2280_2281del (p.Leu762fs) Deletion Pathogenic 640578 rs1592729525 GRCh37: 12:32955355-32955356
GRCh38: 12:32802421-32802422

UniProtKB/Swiss-Prot genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

72
# Symbol AA change Variation ID SNP ID
1 PKP2 p.Ser615Phe VAR_021149 rs106050118
2 PKP2 p.Lys654Gln VAR_021150 rs131969051
3 PKP2 p.Cys796Arg VAR_021151 rs794729098
4 PKP2 p.Glu137Lys VAR_065705 rs781739949
5 PKP2 p.Ser169Gly VAR_065706 rs139139859
6 PKP2 p.Phe424Ser VAR_065711 rs397516990
7 PKP2 p.Tyr631Cys VAR_065716 rs106050118
8 PKP2 p.Leu787Phe VAR_065718 rs146268898

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9.

Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Cellular components related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.85 PKP2 JUP DSP DSG2 DSC3 DSC2
2 cell-cell junction GO:0005911 9.73 PKP2 JUP DSP DSG2 DSC3 DSC2
3 intermediate filament GO:0005882 9.62 PKP2 LMNA JUP DSP
4 adherens junction GO:0005912 9.61 PKP2 JUP DSC2
5 intercalated disc GO:0014704 9.55 PKP2 JUP DSP DSG2 DSC2
6 sarcoplasmic reticulum membrane GO:0033017 9.46 RYR2 PLN
7 cornified envelope GO:0001533 9.43 PKP2 JUP DSP DSG2 DSC3 DSC2
8 fascia adherens GO:0005916 9.4 JUP DSP
9 desmosome GO:0030057 9.1 PKP2 JUP DSP DSG2 DSC3 DSC2

Biological processes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.91 RPSA 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 cornification GO:0070268 9.73 PKP2 JUP DSP DSG2 DSC3 DSC2
5 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.7 DSG2 DSC3 DSC2
6 desmosome organization GO:0002934 9.58 PKP2 DSP DSG2
7 regulation of heart rate by cardiac conduction GO:0086091 9.55 PKP2 JUP DSP DSG2 DSC2
8 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.51 RYR2 PLN
9 ventricular cardiac muscle cell action potential GO:0086005 9.49 RYR2 PKP2
10 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.48 RYR2 PKP2
11 desmosome assembly GO:0002159 9.46 PKP2 JUP
12 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.35 PKP2 JUP DSP DSG2 DSC2
13 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, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.43 LMNA JUP DSP
2 alpha-catenin binding GO:0045294 9.16 PKP2 JUP
3 cell adhesion molecule binding GO:0050839 9.13 JUP DSP DSG2
4 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, 9

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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