WPWS
MCID: WLF001
MIFTS: 65

Wolff-Parkinson-White Syndrome (WPWS)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Wolff-Parkinson-White Syndrome

MalaCards integrated aliases for Wolff-Parkinson-White Syndrome:

Name: Wolff-Parkinson-White Syndrome 57 12 74 20 43 73 29 13 54 6 44 15 17 71
Wolff-Parkinson-White Pattern 12 29 6 39
Wpw Syndrome 57 20 43
Ventricular Familial Preexcitation Syndrome 20 73
Anomalous Atrioventricular Excitation 12 71
Preexcitation Syndrome 20 71
Auriculoventricular Accessory Pathway Syndrome 20
Ventricular Pre-Excitation with Arrhythmia 43
Anomalous Ventricular Excitation Syndrome 20
False Bundle Branch Block Syndrome 20
Wolff-Parkinson-White Syndrome 36
Ventricular Preexcitation 71
Anomalous a-V Excitation 12
Wpws 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset as early as childhood


HPO:

31
wolff-parkinson-white syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:384
OMIM® 57 194200
KEGG 36 H01154
ICD9CM 34 426.7
MeSH 44 D014927
NCIt 50 C35132
SNOMED-CT 67 195057009 74390002
ICD10 32 I45.6
UMLS 71 C0032915 C0043202 C0392470 more

Summaries for Wolff-Parkinson-White Syndrome

MedlinePlus Genetics : 43 Wolff-Parkinson-White syndrome is a condition characterized by abnormal electrical pathways in the heart that cause a disruption of the heart's normal rhythm (arrhythmia).The heartbeat is controlled by electrical signals that move through the heart in a highly coordinated way. A specialized cluster of cells called the atrioventricular node conducts electrical impulses from the heart's upper chambers (the atria) to the lower chambers (the ventricles). Impulses move through the atrioventricular node during each heartbeat, stimulating the ventricles to contract slightly later than the atria.People with Wolff-Parkinson-White syndrome are born with an extra connection in the heart, called an accessory pathway, that allows electrical signals to bypass the atrioventricular node and move from the atria to the ventricles faster than usual. The accessory pathway may also transmit electrical impulses abnormally from the ventricles back to the atria. This extra connection can disrupt the coordinated movement of electrical signals through the heart, leading to an abnormally fast heartbeat (tachycardia) and other changes in heart rhythm. Resulting symptoms include dizziness, a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, and fainting (syncope). In rare cases, arrhythmias associated with Wolff-Parkinson-White syndrome can lead to cardiac arrest and sudden death. The most common arrhythmia associated with Wolff-Parkinson-White syndrome is called paroxysmal supraventricular tachycardia.Complications of Wolff-Parkinson-White syndrome can occur at any age, although some individuals born with an accessory pathway in the heart never experience any health problems associated with the condition.Wolff-Parkinson-White syndrome often occurs with other structural abnormalities of the heart or underlying heart disease. The most common heart defect associated with the condition is Ebstein anomaly, which affects the valve that allows blood to flow from the right atrium to the right ventricle (the tricuspid valve). Additionally, the heart rhythm problems associated with Wolff-Parkinson-White syndrome can be a component of several other genetic syndromes, including hypokalemic periodic paralysis (a condition that causes episodes of extreme muscle weakness), Pompe disease (a disorder characterized by the storage of excess glycogen), Danon disease (a condition that weakens the heart and skeletal muscles and causes intellectual disability), and tuberous sclerosis complex (a condition that results in the growth of noncancerous tumors in many parts of the body).

MalaCards based summary : Wolff-Parkinson-White Syndrome, also known as wolff-parkinson-white pattern, is related to danon disease and ventricular fibrillation, paroxysmal familial, 1. An important gene associated with Wolff-Parkinson-White Syndrome is PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2), and among its related pathways/superpathways are Insulin signaling pathway and Adipocytokine signaling pathway. Affiliated tissues include heart, atrioventricular node and brain, and related phenotypes are sudden cardiac death and stroke

GARD : 20 Wolff-Parkinson-White syndrome causes a problem with the rate or rhythm of the heartbeat (arrhythmia). People with the syndrome are born with a heart abnormality that affects the coordinated movement of electrical signals through the heart. This leads to an abnormally fast heartbeat (tachycardia) and other arrhythmias. The most common arrhythmia associated with Wolff-Parkinson-White syndrome is paroxysmal supraventricular tachycardia. The syndrome is especially common in people of Chinese descent. In most cases, the cause of Wolff-Parkinson-White syndrome is unknown. A small percentage of cases are caused by genetic changes (mutations or pathogenic variants) in the PRKAG2 gene. These cases appear to be inherited in an autosomal dominant manner. A diagnosis of the syndrome is based on an electrocardiogram (ECG) or Holter test that shows episodes of tachycardia. Treatment for the syndrome may depend on the severity of symptoms but can include medications or surgery.

KEGG : 36 Wolff-Parkinson-White (WPW) syndrome is the most common cause of ventricular pre-excitation, a condition where all or part of the ventricle is excited earlier than would normally be expected, often leading to ventricular fibrillation and sudden cardiac death. It was recently discovered that mutations in PRKAG2, that encodes a subunit of the AMP-activated protein kinase, is responsible for WPW syndrome.

UniProtKB/Swiss-Prot : 73 Wolff-Parkinson-White syndrome: A supernormal conduction disorder characterized by the presence of one or several accessory atrioventricular connections, which can lead to episodes of sporadic tachycardia.

Wikipedia : 74 Wolff-Parkinson-White syndrome (WPWS) is a disorder due to a specific type of problem with the... more...

More information from OMIM: 194200

Related Diseases for Wolff-Parkinson-White Syndrome

Diseases related to Wolff-Parkinson-White Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 285)
# Related Disease Score Top Affiliating Genes
1 danon disease 32.4 PRKAG2 MYH7 MYH6 MYBPC3
2 ventricular fibrillation, paroxysmal familial, 1 32.0 TNNT2 SCN5A NKX2-5 KCNQ1
3 syncope 31.9 TNNT2 SCN5A KCNQ1
4 left bundle branch hemiblock 31.7 TNNT2 TNNI3 SCN5A
5 atrial fibrillation 31.5 SCN5A MYH7 MYBPC3 KCNQ1 ABCC9
6 cardiac conduction defect 31.5 SCN5A MYH7 MYH6 MYBPC3 KCNQ1
7 atrioventricular block 31.3 TTN-AS1 TNNI3 SCN5A NKX2-5 MYH7 KCNQ1
8 cardiac arrest 31.2 TNNT2 TNNI3 SCN5A MYH7 MYBPC3 KCNQ1
9 second-degree atrioventricular block 31.0 TNNI3 SCN5A
10 mitral valve insufficiency 31.0 TNNT2 TNNI3 MYH7 MYH6 MYBPC3
11 heart septal defect 30.9 TNNT2 TBX20 NODAL NKX2-5 MYH6 JAG1
12 ventricular septal defect 30.9 TBX20 NODAL NKX2-5 MYH7 JAG1
13 dextrocardia 30.9 TNNT2 NODAL MYH7 ACTC1
14 tricuspid atresia 30.8 TBX20 NKX2-5
15 heart valve disease 30.8 TNNI3 NKX2-5 MYH6
16 congenitally corrected transposition of the great arteries 30.8 TNNT2 NODAL
17 cardiac arrhythmia 30.7 SCN5A KCNQ1 JUP
18 congestive heart failure 30.7 TNNT2 TNNI3 SCN5A MYH7 MYH6 KCNQ1
19 lateral myocardial infarction 30.7 TNNI3 SCN5A
20 sinoatrial node disease 30.6 SCN5A NKX2-5 MYH6 KCNQ1
21 myocardial infarction 30.5 TNNT2 TNNI3 SCN5A MYH7 MYH6 KCNQ1
22 aortic valve disease 1 30.5 TBX20 NKX2-5 MYH6 JAG1
23 rheumatic myocarditis 30.5 TNNT2 TNNI3
24 atrial heart septal defect 30.4 TNNT2 TNNI3 TBX20 SCN5A NODAL NKX2-5
25 cardiomyopathy, familial hypertrophic, 1 30.4 TNNT2 TNNI3 SCN5A PRKAG2 MYH7 MYH6
26 patent ductus arteriosus 1 30.4 TBX20 NODAL NKX2-5 MYH6 JAG1 ABCC9
27 patent foramen ovale 30.4 TNNT2 TNNI3 TBX20 NKX2-5 MYH6 ACTC1
28 total anomalous pulmonary venous return 1 30.4 NODAL NKX2-5
29 atrial standstill 1 30.4 TTN-AS1 TNNT2 TNNI3 SCN5A PRKAG2 MYH7
30 arrhythmogenic right ventricular cardiomyopathy 30.3 SCN5A MYH7 MYH6 JUP ABCC9
31 first-degree atrioventricular block 30.3 SCN5A MYH7
32 myopathy 30.2 TTN-AS1 TNNT2 TNNI3 MYH7 MYH6 MYBPC3
33 neuromuscular disease 30.2 TTN-AS1 SCN5A MYH7 MYH6
34 long qt syndrome 30.1 TTN-AS1 SCN5A MYH7 MYH6 MYBPC3 KCNQ1
35 tricuspid valve disease 30.1 TNNT2 TNNI3 TBX20 NKX2-5 MYH7 MYH6
36 noonan syndrome with multiple lentigines 30.1 TNNT2 SCN5A NKX2-5 MYH7 MYH6 MYBPC3
37 heart disease 29.9 TNNT2 TNNI3 TBX20 SCN5A NODAL NKX2-5
38 hypertrophic cardiomyopathy 29.9 TNNT2 TNNI3 SCN5A PRKAG2 PRKAA2 NKX2-5
39 familial atrial fibrillation 29.9 SCN5A NKX2-5 MYH7 MYH6 KCNQ1 CASQ2
40 tetralogy of fallot 29.7 TNNT2 TNNI3 TBX20 SCN5A NODAL NKX2-5
41 dilated cardiomyopathy 29.5 TTN-AS1 TNNT2 TNNI3 TBX20 SCN5A PRKAG2
42 brugada syndrome 29.4 TTN-AS1 TNNT2 TNNI3 SCN5A PRKAG2 NKX2-5
43 cardiomyopathy, familial hypertrophic, 6 11.6
44 cardiomyopathy, infantile histiocytoid 11.3
45 20p12.3 microdeletion syndrome 11.3
46 myoclonic epilepsy associated with ragged-red fibers 11.0
47 progressive familial heart block, type ia 11.0
48 progressive familial heart block, type ib 10.8
49 right bundle branch block 10.8
50 mitral valve stenosis 10.7

Comorbidity relations with Wolff-Parkinson-White Syndrome via Phenotypic Disease Network (PDN):


Familial Atrial Fibrillation Heart Disease
Intermediate Coronary Syndrome Mitral Valve Disease

Graphical network of the top 20 diseases related to Wolff-Parkinson-White Syndrome:



Diseases related to Wolff-Parkinson-White Syndrome

Symptoms & Phenotypes for Wolff-Parkinson-White Syndrome

Human phenotypes related to Wolff-Parkinson-White Syndrome:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 31 HP:0001645
2 stroke 31 HP:0001297
3 cardiomyopathy 31 HP:0001638
4 paroxysmal atrial fibrillation 31 HP:0004757
5 wolff-parkinson-white syndrome 31 HP:0001716
6 palpitations 31 HP:0001962
7 shortened pr interval 31 HP:0005165
8 prolonged qrs complex 31 HP:0006677
9 paroxysmal supraventricular tachycardia 31 HP:0004763
10 ventricular preexcitation with multiple accessory pathways 31 HP:0006684

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiovascular Heart:
paroxysmal atrial fibrillation
ventricular preexcitation
paroxysmal supraventricular tachycardia
short pr interval (<120 msec)
widened qrs complex (>110 msec)
more
Cardiovascular Vascular:
hypertension (in some patients)

Clinical features from OMIM®:

194200 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Wolff-Parkinson-White Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.39 ABCC9 ACTC1 CASQ2 JAG1 JUP KCNQ1
2 growth/size/body region MP:0005378 10.24 ABCC9 ACTC1 CASQ2 JAG1 JUP KCNQ1
3 homeostasis/metabolism MP:0005376 10.22 ABCC9 ACTC1 CASQ2 JAG1 JUP KCNQ1
4 muscle MP:0005369 10.11 ABCC9 ACTC1 CASQ2 JAG1 JUP KCNQ1
5 mortality/aging MP:0010768 10.07 ABCC9 ACTC1 CASQ2 JAG1 JUP MYH6
6 embryo MP:0005380 10.06 ACTC1 CASQ2 JAG1 JUP NKX2-5 NODAL
7 craniofacial MP:0005382 9.98 ACTC1 CASQ2 JAG1 JUP NKX2-5 NODAL
8 nervous system MP:0003631 9.7 ABCC9 ACTC1 JAG1 JUP KCNQ1 NKX2-5
9 normal MP:0002873 9.32 ACTC1 JAG1 JUP KCNQ1 MYH7 NKX2-5

Drugs & Therapeutics for Wolff-Parkinson-White Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Mini-invasive Electrophysiology Study as a Routine Examination for Patients Complaining of Tachycardia, But With a Negative Holter ECG. Completed NCT00251121
2 The Efficacy and Safety of Left Atrial Appendage Closure in Combination With Catheter Ablation in Patients With Atrial Fibrillation Recruiting NCT03788941
3 Risk Assessment in Patients With Symptomatic- and Asymptomatic Preexcitation Recruiting NCT03301935
4 Safety and Efficacy of Cryotherapy Versus Radiofrequency Ablation for Treatment of Para-hisian Accessory Pathways: a Randomized Comparative Trial Recruiting NCT04361006
5 Reproducibility and Validity of the Stress ECG Test for the Evaluation of the Risk of Sudden Cardiac Death in a Paediatric Cohort With Preexcitation (WPW Pattern) Enrolling by invitation NCT03207373
6 Accessory Pathway Antegrade Effective Refractory Period Among Wolff Parkinson White Patients: the Risk in Relation to the Location Not yet recruiting NCT04106622
7 Long Term Evolution of the Anterograde Refractory Period of Accessory Duct in the Wolff-Parkinson-White Syndrome Terminated NCT00873470

Search NIH Clinical Center for Wolff-Parkinson-White Syndrome

Inferred drug relations via UMLS 71 / NDF-RT 51 :


Adenosine
Adenosine Monophosphate
ADENOSINE MONOPHOSPHATE PWDR
ADENOSINE PHOSPHATE SODIUM
Adenosine Triphosphate

Cochrane evidence based reviews: wolff-parkinson-white syndrome

Genetic Tests for Wolff-Parkinson-White Syndrome

Genetic tests related to Wolff-Parkinson-White Syndrome:

# Genetic test Affiliating Genes
1 Wolff-Parkinson-White Pattern 29 PRKAG2
2 Wolff-Parkinson-White Syndrome 29

Anatomical Context for Wolff-Parkinson-White Syndrome

MalaCards organs/tissues related to Wolff-Parkinson-White Syndrome:

40
Heart, Atrioventricular Node, Brain, Thyroid, Skin, Endothelial, Bone

Publications for Wolff-Parkinson-White Syndrome

Articles related to Wolff-Parkinson-White Syndrome:

(show top 50) (show all 3553)
# Title Authors PMID Year
1
Electrophysiologic characteristics of accessory atrioventricular connections in an inherited form of Wolff-Parkinson-White syndrome. 61 6 57
10355918 1999
2
Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. 61 6 54
11827995 2002
3
Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy. 61 54 57
11748095 2001
4
Radiofrequency ablation in children with asymptomatic Wolff-Parkinson-White syndrome. 57 61
15371577 2004
5
A gene responsible for familial Wolff-Parkinson-White syndrome. 57 61
11586962 2001
6
Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. 61 57
11407343 2001
7
Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. 61 57
7657794 1995
8
Familial Wolff-Parkinson-White syndrome. 57 61
7069337 1982
9
A proposed autosomal dominant method of inheritance of the Wolff-Parkinson-White syndrome and supraventricular tachycardia. 57 61
671163 1978
10
Familial occurrence of Wolff-Parkinson-White syndrome. 61 57
5794793 1969
11
Familial Wolff-Parkinson-White syndrome with cardiomyopathy. 57 61
4228766 1967
12
Hereditary occurrence of the pre-excitation (Wolff-Parkinson-White) syndrome with re-entry mechanism and concealed conduction. 61 57
13619017 1959
13
Genetically transmitted ventricular pre-excitation in a family with hypertrophic cardiomyopathy. 6
10820940 2000
14
Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. 57
9241277 1997
15
Clinical manifestations and prevalence of different types of supraventricular tachycardia among Chinese. 57
1618009 1992
16
Familial occurrence of accessory atrioventricular pathways (preexcitation syndrome). 57
3587328 1987
17
A 17-year follow-up study of a family with idiopathic hypertrophic cardiomyopathy and WPW syndrome. 57
567705 1978
18
20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. 61 54
18812404 2009
19
[AMP-activated protein kinase: how a mistake in energy gauge causes glycogen storage]. 61 54
17990392 2007
20
[A familial form of conduction defects associated with a PRKAG2 gene mutation]. 54 61
18033003 2007
21
Role of AMP-activated protein kinase in healthy and diseased hearts. 54 61
16844922 2006
22
Familial pseudo-Wolff-Parkinson-White syndrome. 54 61
16836667 2006
23
Familial Wolff-Parkinson-White Syndrome: a disease of glycogen storage or ion channel dysfunction? 61 54
16686673 2006
24
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. 61 54
15877279 2005
25
Transgenic mouse model of ventricular preexcitation and atrioventricular reentrant tachycardia induced by an AMP-activated protein kinase loss-of-function mutation responsible for Wolff-Parkinson-White syndrome. 61 54
15611370 2005
26
Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis. 61 54
14519435 2003
27
Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy. 54 61
12782567 2003
28
Molecular genetic analysis of PRKAG2 in sporadic Wolff-Parkinson-White syndrome. 54 61
12716108 2003
29
Functional analysis of mutations in the gamma 2 subunit of AMP-activated protein kinase associated with cardiac hypertrophy and Wolff-Parkinson-White syndrome. 61 54
12397075 2002
30
Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. 54 61
11371514 2001
31
Wolff-Parkinson-White Syndrome in an Adolescent With Familial Mediterranean Fever: A Coincidence? 61
31880606 2021
32
Ventricular Preexcitation in a Patient Found to Have Wolff-Parkinson-White Pattern. 61
33315092 2021
33
The use of intravenous amiodarone in patients with atrial fibrillation and Wolff-Parkinson-White syndrome. 61
33118640 2021
34
The Effect of Accessory Pathway Location on Cardiac Function in Adult Patients with Wolff-Parkinson-White Syndrome. 61
33489357 2021
35
Outcomes of ablation in Wolff-Parkinson-White-syndrome: Data from the German Ablation Registry. 61
32890614 2021
36
An effective heterogeneous whole-heart mathematical model of cardiac induction system with heart rate variability. 61
33342346 2020
37
[Open Heart Surgery to Remove an Ablation Catheter Entrapped in the Left Ventricle;Report of a Case]. 61
33271585 2020
38
Accessory Pathway-Mediated Tachycardias: Precision Electrocardiology Through Standard and Advanced Electrocardiogram Recording Techniques. 61
33161997 2020
39
Intracranial vessel wall MR imaging of an intradural vertebral artery dissection. 61
32585416 2020
40
Change of Paradigm in the Management of Patients with Accessory Pathways over the Last Forty Years: Wolff-Parkinson-White Syndrome as an Electrophysiological Marvel at Risk of Extinction. 61
33161993 2020
41
New algorithm for accessory pathway localization focused on screening septal pathways in pediatric patients with Wolff-Parkinson-White syndrome. 61
32681992 2020
42
Effect of pulmonary vein isolation on atrial fibrillation recurrence after accessory pathway ablation in patients with Wolff-Parkinson-White syndrome. 61
33002216 2020
43
Sudden Cardiac Death in Patients with Ventricular Preexcitation. 61
33162000 2020
44
An unusual treatment of coronary injury following radiofrequency ablation in a 5-year-old child: Systemic steroid usage. 61
32543718 2020
45
Cardiac Screening for High Risk Sudden Cardiac Death in School-Aged Children. 61
33235421 2020
46
3D Electroanatomic Mapping of an Extreme Oblique Accessory Pathway in Wolff-Parkinson-White Syndrome. 61
33305231 2020
47
Prevalence and incidence of adverse events with catheter ablation for adults with Wolff-Parkinson-White syndrome: a systematic review protocol. 61
33141802 2020
48
Paroxysmal Supraventricular Tachycardia in Wolff-Parkinson-White Syndrome in a Newborn-Case Report and Mini-Review. 61
33167583 2020
49
Loss of ventricular preexcitation during noninvasive testing does not exclude high-risk accessory pathways: A multicenter study of WPW in children. 61
32497761 2020
50
Clinical characteristics of challenging catheter ablation procedures in patients with WPW syndrome: A 10 year single-center experience. 61
32532584 2020

Variations for Wolff-Parkinson-White Syndrome

ClinVar genetic disease variations for Wolff-Parkinson-White Syndrome:

6 (show top 50) (show all 199)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRKAG2 NM_016203.4(PRKAG2):c.547G>A (p.Glu183Lys) SNV Pathogenic 430968 rs1131692281 7:151372643-151372643 7:151675557-151675557
2 PRKAG2 NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) SNV Pathogenic 6846 rs121908987 7:151273498-151273498 7:151576412-151576412
3 NODAL NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) SNV Pathogenic 8269 rs121909283 10:72195155-72195155 10:70435399-70435399
4 TBX20 NM_001077653.2(TBX20):c.995del (p.Pro332fs) Deletion Pathogenic 438266 rs1554284604 7:35244090-35244090 7:35204478-35204478
5 SCN5A NM_198056.2(SCN5A):c.1567C>T (p.Arg523Cys) SNV Likely pathogenic 67667 rs199473119 3:38645526-38645526 3:38604035-38604035
6 KCNQ1 NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) SNV Likely pathogenic 52970 rs199472776 11:2608860-2608860 11:2587630-2587630
7 SLC26A4-AS1 NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) SNV Likely pathogenic 4839 rs111033205 7:107302171-107302171 7:107661726-107661726
8 MYH7 NM_000257.4(MYH7):c.728G>A (p.Arg243His) SNV Likely pathogenic 14126 rs267606910 14:23900798-23900798 14:23431589-23431589
9 KCNQ1 NM_181798.1(KCNQ1):c.343G>A (p.Asp115Asn) SNV Likely pathogenic 53090 rs199472712 11:2593283-2593283 11:2572053-2572053
10 TNNT2 NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu) SNV Likely pathogenic 177807 rs727504331 1:201334370-201334370 1:201365242-201365242
11 SCN5A NM_198056.2(SCN5A):c.1705C>G (p.Arg569Gly) SNV Likely pathogenic 201576 rs199473576 3:38645388-38645388 3:38603897-38603897
12 TTN-AS1 NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter) SNV Likely pathogenic 223300 rs869312065 2:179413670-179413670 2:178548943-178548943
13 JUP NM_002230.4(JUP):c.773A>G (p.Glu258Gly) SNV Likely pathogenic 201830 rs794729052 17:39923767-39923767 17:41767515-41767515
14 CASQ2 NM_001232.3(CASQ2):c.2T>C (p.Met1Thr) SNV Likely pathogenic 452250 rs1553197939 1:116311161-116311161 1:115768540-115768540
15 TTN-AS1 NM_001267550.2(TTN):c.66904C>T (p.Leu22302=) SNV Likely pathogenic 487595 rs1553624186 2:179445202-179445202 2:178580475-178580475
16 ABCC9 NM_005691.3(ABCC9):c.2019+2T>C SNV Likely pathogenic 487597 rs1555100687 12:22035698-22035698 12:21882764-21882764
17 TNNT2 NM_001276345.2(TNNT2):c.3G>A (p.Met1Ile) SNV Likely pathogenic 487631 rs1289914935 1:201342380-201342380 1:201373252-201373252
18 MYH6 NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) SNV Likely pathogenic 14151 rs143978652 14:23862646-23862646 14:23393437-23393437
19 MYH7 NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) SNV Likely pathogenic 43012 rs201307101 14:23886504-23886504 14:23417295-23417295
20 ACTC1 NM_005159.5(ACTC1):c.524_525insC (p.Ala176fs) Insertion Likely pathogenic 487625 rs1555418832 15:35084700-35084701 15:34792499-34792500
21 MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) SNV Likely pathogenic 42901 rs3218716 14:23894525-23894525 14:23425316-23425316
22 MYBPC3 NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) SNV Likely pathogenic 42550 rs397515912 11:47364162-47364162 11:47342611-47342611
23 PRKAG2 NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) SNV Conflicting interpretations of pathogenicity 36697 rs79474211 7:151478406-151478406 7:151781320-151781320
24 PRKAG2 NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) SNV Uncertain significance 45697 rs397517264 7:151262815-151262815 7:151565729-151565729
25 MYBPC3 NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) SNV Uncertain significance 36601 rs193922377 11:47364602-47364602 11:47343051-47343051
26 ACTC1 NM_005159.5(ACTC1):c.944T>A (p.Met315Lys) SNV Uncertain significance 487590 rs1555418685 15:35083361-35083361 15:34791160-34791160
27 MYBPC3 NM_000256.3(MYBPC3):c.2603G>A (p.Gly868Asp) SNV Uncertain significance 487610 rs886048376 11:47357562-47357562 11:47336011-47336011
28 RYR2 NM_001035.3(RYR2):c.982G>A (p.Ala328Thr) SNV Uncertain significance 93480 rs201669522 1:237586525-237586525 1:237423225-237423225
29 KCNJ2 NM_000891.2(KCNJ2):c.49G>A (p.Asp17Asn) SNV Uncertain significance 487624 rs1331601602 17:68171229-68171229 17:70175088-70175088
30 PRKAG2 NM_016203.4(PRKAG2):c.1106+9G>C SNV Uncertain significance 45687 rs200429988 7:151267248-151267248 7:151570162-151570162
31 PRKAG2 NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly) SNV Uncertain significance 45733 rs201240745 7:151329211-151329211 7:151632125-151632125
32 PRKAG2 NM_016203.4(PRKAG2):c.1304A>G (p.Asn435Ser) SNV Uncertain significance 167533 rs200589374 7:151262901-151262901 7:151565815-151565815
33 LMNA NM_170707.4(LMNA):c.1756G>A (p.Val586Met) SNV Uncertain significance 487635 rs758048062 1:156108336-156108336 1:156138545-156138545
34 MYBPC3 NM_000256.3(MYBPC3):c.1219G>C (p.Gly407Arg) SNV Uncertain significance 487636 rs727505266 11:47365047-47365047 11:47343496-47343496
35 VCL NM_014000.2(VCL):c.550C>T (p.His184Tyr) SNV Uncertain significance 487630 rs1321660809 10:75832538-75832538 10:74072780-74072780
36 PRKAG2 NM_016203.4(PRKAG2):c.981A>G (p.Leu327=) SNV Uncertain significance 227880 rs764162597 7:151272001-151272001 7:151574915-151574915
37 PRKAG2 NM_016203.4(PRKAG2):c.947-7G>A SNV Uncertain significance 465344 rs1554464198 7:151272042-151272042 7:151574956-151574956
38 PRKAG2 NM_016203.4(PRKAG2):c.312C>T (p.Thr104=) SNV Uncertain significance 45713 rs397517268 7:151478392-151478392 7:151781306-151781306
39 PRKAG2 NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser) SNV Uncertain significance 45711 rs148791216 7:151478457-151478457 7:151781371-151781371
40 PRKAG2 NM_016203.4(PRKAG2):c.866T>C (p.Val289Ala) SNV Uncertain significance 181473 rs730880975 7:151273537-151273537 7:151576451-151576451
41 PRKAG2 NM_016203.4(PRKAG2):c.750C>T (p.Asp250=) SNV Uncertain significance 378428 rs201735117 7:151329159-151329159 7:151632073-151632073
42 PRKAG2 NM_016203.4(PRKAG2):c.532G>A (p.Glu178Lys) SNV Uncertain significance 45723 rs397517273 7:151372658-151372658 7:151675572-151675572
43 PRKAG2 NM_016203.4(PRKAG2):c.*2C>T SNV Uncertain significance 177987 rs199559205 7:151254285-151254285 7:151557199-151557199
44 PRKAG2 NM_016203.4(PRKAG2):c.471C>T (p.Ser157=) SNV Uncertain significance 45721 rs141804012 7:151372719-151372719 7:151675633-151675633
45 PRKAG2 NM_016203.4(PRKAG2):c.432C>T (p.Pro144=) SNV Uncertain significance 520278 rs764742900 7:151478272-151478272 7:151781186-151781186
46 PRKAG2 NM_016203.4(PRKAG2):c.431C>T (p.Pro144Leu) SNV Uncertain significance 181485 rs150140412 7:151478273-151478273 7:151781187-151781187
47 PRKAG2 NM_016203.4(PRKAG2):c.1584+7C>T SNV Uncertain significance 45699 rs111627309 7:151261157-151261157 7:151564071-151564071
48 PRKAG2 NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu) SNV Uncertain significance 912141 7:151478363-151478363 7:151781277-151781277
49 PRKAG2 NM_016203.4(PRKAG2):c.88A>C (p.Arg30=) SNV Uncertain significance 465343 rs756923555 7:151573618-151573618 7:151876533-151876533
50 PRKAG2 NM_016203.4(PRKAG2):c.590C>G (p.Pro197Arg) SNV Uncertain significance 374128 rs368637364 7:151372600-151372600 7:151675514-151675514

UniProtKB/Swiss-Prot genetic disease variations for Wolff-Parkinson-White Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 PRKAG2 p.Arg302Gln VAR_013264 rs121908987
2 PRKAG2 p.Arg531Gly VAR_032909 rs121908990

Expression for Wolff-Parkinson-White Syndrome

Search GEO for disease gene expression data for Wolff-Parkinson-White Syndrome.

Pathways for Wolff-Parkinson-White Syndrome

Pathways related to Wolff-Parkinson-White Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Insulin signaling pathway hsa04910
2 Adipocytokine signaling pathway hsa04920
3 Hypertrophic cardiomyopathy hsa05410

Pathways related to Wolff-Parkinson-White Syndrome according to GeneCards Suite gene sharing:

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.76 TNNT2 TNNI3 SCN5A NKX2-5 MYH6 MYBPC3
2
Show member pathways
12.45 TNNT2 TNNI3 SCN5A MYH7 MYH6 KCNQ1
3 12.39 TNNT2 TNNI3 JUP ACTC1
4 11.93 PRKAG3 PRKAG2 PRKAA2 JAG1
5 11.9 TNNT2 TNNI3 NODAL NKX2-5
6
Show member pathways
11.88 TNNT2 TNNI3 PRKAG3 PRKAG2 PRKAA2 MYH7
7
Show member pathways
11.83 PRKAG3 PRKAG2 PRKAA2
8 11.8 PRKAG3 PRKAG2 PRKAA2
9
Show member pathways
11.76 PRKAG3 PRKAG2 PRKAA2
10 11.74 TNNT2 TNNI3 NKX2-5
11 11.68 PRKAG3 PRKAG2 PRKAA2
12 11.62 TNNT2 TNNI3 MYH6 MYBPC3 ACTC1
13 11.6 PRKAG3 PRKAG2 PRKAA2
14 11.57 TNNT2 TNNI3 MYH7 MYH6 CASQ2 ACTC1
15 11.56 PRKAG3 PRKAG2 PRKAA2
16 11.51 PRKAG3 PRKAG2 PRKAA2 MYH7 MYH6
17 11.42 PRKAG3 PRKAG2 PRKAA2
18 11.4 SCN5A KCNQ1 JUP CASQ2 ABCC9
19
Show member pathways
11.32 PRKAG3 PRKAG2 PRKAA2
20 11.19 PRKAG3 PRKAG2 PRKAA2
21 10.95 TNNT2 TNNI3 TBX20 SCN5A NODAL NKX2-5
22 10.61 PRKAG2 PRKAA2
23 10.31 NKX2-5 ACTC1

GO Terms for Wolff-Parkinson-White Syndrome

Cellular components related to Wolff-Parkinson-White Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lateral plasma membrane GO:0016328 9.58 SCN5A KCNQ1 JUP
2 myofibril GO:0030016 9.56 TNNT2 TNNI3 MYH7 MYH6
3 Z disc GO:0030018 9.55 SCN5A MYH7 MYH6 JUP CASQ2
4 myosin filament GO:0032982 9.5 MYH7 MYH6 MYBPC3
5 muscle myosin complex GO:0005859 9.48 MYH7 MYH6
6 nucleotide-activated protein kinase complex GO:0031588 9.46 PRKAG3 PRKAG2
7 troponin complex GO:0005861 9.43 TNNT2 TNNI3
8 cardiac Troponin complex GO:1990584 9.37 TNNT2 TNNI3
9 sarcomere GO:0030017 9.17 TNNT2 TNNI3 MYH7 MYH6 MYBPC3 ACTC1
10 cardiac myofibril GO:0097512 9.13 TNNT2 TNNI3 MYBPC3

Biological processes related to Wolff-Parkinson-White Syndrome according to GeneCards Suite gene sharing:

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 macroautophagy GO:0016236 9.82 PRKAG3 PRKAG2 PRKAA2
2 fatty acid biosynthetic process GO:0006633 9.78 PRKAG3 PRKAG2 PRKAA2
3 regulation of macroautophagy GO:0016241 9.77 PRKAG3 PRKAG2 PRKAA2
4 muscle contraction GO:0006936 9.77 TNNT2 TNNI3 TBX20 MYH7 MYH6
5 heart looping GO:0001947 9.76 TBX20 NODAL NKX2-5
6 vasculogenesis GO:0001570 9.75 TNNI3 TBX20 NKX2-5
7 regulation of cardiac conduction GO:1903779 9.74 NKX2-5 CASQ2 ABCC9
8 cardiac conduction GO:0061337 9.72 SCN5A KCNQ1 ABCC9
9 cellular response to glucose starvation GO:0042149 9.7 PRKAG3 PRKAG2 PRKAA2
10 regulation of heart rate by cardiac conduction GO:0086091 9.69 SCN5A KCNQ1 JUP
11 regulation of the force of heart contraction GO:0002026 9.67 MYH7 MYH6
12 actin filament-based movement GO:0030048 9.67 MYH6 ACTC1
13 regulation of heart contraction GO:0008016 9.67 TNNT2 MYH6 KCNQ1
14 regulation of muscle contraction GO:0006937 9.66 TNNT2 TNNI3
15 ventricular cardiac muscle cell action potential GO:0086005 9.66 SCN5A KCNQ1
16 heart contraction GO:0060047 9.65 TNNI3 ACTC1
17 positive regulation of sodium ion transport GO:0010765 9.65 SCN5A NKX2-5
18 aortic valve morphogenesis GO:0003180 9.65 TBX20 NKX2-5 JAG1
19 cardiac right ventricle morphogenesis GO:0003215 9.64 TBX20 JAG1
20 cardiac muscle hypertrophy in response to stress GO:0014898 9.64 MYH7 MYH6
21 atrial septum morphogenesis GO:0060413 9.63 TBX20 NKX2-5
22 negative regulation of ATPase activity GO:0032780 9.63 TNNT2 TNNI3
23 embryonic heart tube development GO:0035050 9.63 TBX20 NODAL NKX2-5
24 regulation of membrane repolarization GO:0060306 9.62 KCNQ1 CASQ2
25 carnitine shuttle GO:0006853 9.62 PRKAG2 PRKAA2
26 regulation of heart rate GO:0002027 9.62 SCN5A MYH7 MYH6 CASQ2
27 regulation of fatty acid biosynthetic process GO:0042304 9.61 PRKAG2 PRKAA2
28 adult heart development GO:0007512 9.61 NKX2-5 MYH7 MYH6
29 atrial cardiac muscle cell action potential GO:0086014 9.59 SCN5A KCNQ1
30 cardiac muscle tissue morphogenesis GO:0055008 9.58 TBX20 NKX2-5 ACTC1
31 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.56 SCN5A KCNQ1
32 striated muscle contraction GO:0006941 9.56 TNNI3 MYH7 MYH6 CASQ2
33 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.55 TNNT2 TNNI3 MYH7 MYH6 MYBPC3
34 regulation of protein serine/threonine kinase activity GO:0071900 9.54 PRKAG3 PRKAG2
35 muscle filament sliding GO:0030049 9.43 TNNT2 TNNI3 MYH7 MYH6 MYBPC3 ACTC1
36 cardiac muscle contraction GO:0060048 9.32 TNNT2 TNNI3 SCN5A NKX2-5 MYH7 MYH6

Molecular functions related to Wolff-Parkinson-White Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 10.02 PRKAG3 PRKAG2 PRKAA2 MYH7 MYH6 ACTC1
2 actin binding GO:0003779 9.77 TNNT2 TNNI3 MYH7 MYH6 MYBPC3
3 calmodulin binding GO:0005516 9.71 SCN5A MYH7 MYH6 KCNQ1
4 ATPase activity GO:0016887 9.55 TNNT2 MYH7 MYH6 ACTC1 ABCC9
5 AMP binding GO:0016208 9.46 PRKAG3 PRKAG2
6 protein kinase regulator activity GO:0019887 9.43 PRKAG3 PRKAG2
7 protein kinase binding GO:0019901 9.43 TNNI3 SCN5A PRKAG3 PRKAG2 MYH6 JUP
8 adenyl ribonucleotide binding GO:0032559 9.32 PRKAG3 PRKAG2
9 troponin C binding GO:0030172 9.26 TNNT2 TNNI3
10 AMP-activated protein kinase activity GO:0004679 8.8 PRKAG3 PRKAG2 PRKAA2

Sources for Wolff-Parkinson-White Syndrome

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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