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	wolff-parkinson-white syndrome

Disease ID	290
Disease	wolff-parkinson-white syndrome
Definition	A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase.
Synonym	anomalous ventricular excitation syndrome auriculoventricular accessory pathway syndrome false bundle-branch block syndrome parkinson syndrome white wolff parkinson syndrome whites wolf parkinson syndrome whites wolfs parkinson wolf white syndrome parkinsons syndrome white wolf parkinsons syndrome white wolff parkinsons syndrome white wolfs syndrome wolf parkinsons white syndrome wolff parkinsons white syndrome wolff-parkinson-white syndrome wpw syndrome, wolf-parkinson-white syndrome, wolff-parkinson-white syndrome, wpw ventricular pre-excitation with arrhythmia ventricular pre-excitation with arrhythmia, nos wolf parkinson white syndrome wolf white parkinson syndrome wolf-parkinson-white syndrome wolff - parkinson - white syndrome wolff parkinson syndrome white wolff parkinson white syndrome wolff-park-white syndr. wolff-parkinson-white arrhythmia wolff-parkinson-white pattern wolff-parkinson-white pattern (disorder) wolff-parkinson-white pattern (finding) wolff-parkinson-white syndrome [disease/finding] wolff-parkinson-white ventricular preexcitation wpw wpw - wolff-parkinson-white pattern wpw - wolff-parkinson-white syndrome wpw syndrome wpws
OMIM	OMIM:194200
DOID	DOID:384
UMLS	C0043202
MeSH	D014927
SNOMED-CT	SNOMEDCT_US_2016_09_01:74390002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:17) C0018801 \| heart failure \| 2 C0023267 \| fibroids \| 1 C0175704 \| leopard syndrome \| 1 C0026269 \| mitral stenosis \| 1 C1142166 \| brugada syndrome \| 1 C0001125 \| lactic acidosis \| 1 C0007194 \| hypertrophic cardiomyopathy \| 1 C0027059 \| myocarditis \| 1 C0878544 \| cardiomyopathy \| 1 C0162671 \| melas syndrome \| 1 C0038012 \| spondylitis \| 1 C0042133 \| uterine fibroid \| 1 C0023976 \| long qt syndrome \| 1 C0004245 \| atrioventricular block \| 1 C0042133 \| uterine fibroids \| 1 C0038013 \| ankylosing spondylitis \| 1 C0027127 \| myotonia congenita \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 51422 \| PRKAG2 \| CLINVAR;CTD_human;GHR;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:41) 161 \| AP2A2 \| 3.983 \| DISEASES 149466 \| C1orf210 \| 2.598 \| DISEASES 781 \| CACNA2D1 \| 3.029 \| DISEASES 10498 \| CARM1 \| 2.558 \| DISEASES 875 \| CBS \| 1.018 \| DISEASES 78987 \| CRELD1 \| 1.676 \| DISEASES 1854 \| DUT \| 2.635 \| DISEASES 3266 \| ERAS \| 2.639 \| DISEASES 2170 \| FABP3 \| 1.387 \| DISEASES 349149 \| GJC3 \| 3.28 \| DISEASES 3055 \| HCK \| 1.582 \| DISEASES 259307 \| IL4I1 \| 2.126 \| DISEASES 3614 \| IMPDH1 \| 2.512 \| DISEASES 3615 \| IMPDH2 \| 2.57 \| DISEASES 3664 \| IRF6 \| 1.178 \| DISEASES 102723508 \| KANTR \| 2.521 \| DISEASES 3920 \| LAMP2 \| 3.475 \| DISEASES 4519 \| MT-CYB \| 3.386 \| DISEASES 4538 \| MT-ND4 \| 3.089 \| DISEASES 4540 \| MT-ND5 \| 3.089 \| DISEASES 4567 \| MT-TL1 \| 2.39 \| DISEASES 4625 \| MYH7 \| 1.661 \| DISEASES 4700 \| NDUFA6 \| 1.793 \| DISEASES 4814 \| NINJ1 \| 1.419 \| DISEASES 103752588 \| PACERR \| 2.586 \| DISEASES 64065 \| PERP \| 2.45 \| DISEASES 10631 \| POSTN \| 2.236 \| DISEASES 5563 \| PRKAA2 \| 2.89 \| DISEASES 3276 \| PRMT1 \| 2.115 \| DISEASES 55170 \| PRMT6 \| 3.002 \| DISEASES 5799 \| PTPRN2 \| 1.955 \| DISEASES 5817 \| PVR \| 2.25 \| DISEASES 6331 \| SCN5A \| 1.936 \| DISEASES 9748 \| SLK \| 2.488 \| DISEASES 6794 \| STK11 \| 1.884 \| DISEASES 9882 \| TBC1D4 \| 2.068 \| DISEASES 8914 \| TIMELESS \| 2.668 \| DISEASES 7139 \| TNNT2 \| 1.011 \| DISEASES 27229 \| TUBGCP4 \| 2.776 \| DISEASES 2837 \| UTS2R \| 2.533 \| DISEASES 8565 \| YARS \| 2.129 \| DISEASES
Locus	(Waiting for update.)

Disease ID	290
Disease	wolff-parkinson-white syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:10) HP:0001962 \| Palpitations HP:0004757 \| Paroxysmal atrial fibrillation HP:0001645 \| Sudden cardiac death HP:0006684 \| Ventricular preexcitation with multiple accessory pathways HP:0001716 \| Wolff-Parkinson-White syndrome HP:0006677 \| Prolonged QRS complex on EKG HP:0001297 \| Cerebral vascular events HP:0004763 \| Episodic supraventricular tachycardia HP:0005165 \| Shortened PR interval on EKG HP:0001638 \| Cardiomyopathy
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:28) HP:0005110 \| Atrial fibrillation \| 11 HP:0001649 \| Tachycardia \| 8 HP:0004756 \| Ventricular tachycardia \| 3 HP:0011675 \| Arrhythmias \| 3 HP:0004755 \| Supraventricular tachycardia \| 3 HP:0001635 \| Congestive heart failure \| 2 HP:0001663 \| Ventricular fibrillation \| 2 HP:0004309 \| Pre-excitation syndrome \| 2 HP:0010316 \| Ebstein's anomaly of the tricuspid valve \| 2 HP:0005165 \| Shortened PR interval on EKG \| 1 HP:0001639 \| Hypertrophic cardiomyopathy \| 1 HP:0012272 \| Osborne waves \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0001645 \| Sudden cardiac death \| 1 HP:0012531 \| Pain \| 1 HP:0011644 \| Coronary sinus diverticulum \| 1 HP:0100749 \| Thoracic pain \| 1 HP:0003128 \| Lactic acidosis \| 1 HP:0001718 \| Mitral stenosis \| 1 HP:0000131 \| Uterine leiomyoma \| 1 HP:0001279 \| Syncope \| 1 HP:0002616 \| Aortic root dilatation \| 1 HP:0006789 \| Mitochondrial encephalopathy \| 1 HP:0002486 \| Myotonia \| 1 HP:0001678 \| Atrioventricular block \| 1 HP:0012819 \| Myocarditis \| 1 HP:0001657 \| Prolonged QT interval \| 1 HP:0001298 \| Encephalopathy \| 1

Disease ID	290
Disease	wolff-parkinson-white syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:36) C2712322 \| tachycardia C2697375 \| brugada syndrome C2364072 \| depression C2108112 \| ventricular fibrillation C2108093 \| paroxysmal supraventricular tachycardia C2041143 \| right bundle branch block C1963244 \| supraventricular tachycardia C1660219 \| analgesia C1546602 \| diverticulum C1442837 \| myocardial necrosis C1290138 \| systemic sclerosis sine scleroderma C0949658 \| familial hypertrophic cardiomyopathy C0694539 \| chronic atrial fibrillation C0344432 \| multiform ventricular tachycardia C0340493 \| idiopathic ventricular fibrillation C0340477 \| atrioventricular reentrant tachycardia C0340471 \| atrioventricular tachycardia C0340425 \| hypertrophic cardiomyopathy C0242514 \| reciprocating tachycardia C0242514 \| reciprocal tachycardia C0235480 \| paroxysmal atrial fibrillation C0232197 \| fibrillation C0039240 \| supraventricular tachycardias C0039236 \| paroxysmal tachycardia C0039070 \| syncope C0038454 \| cerebral infarction C0034067 \| emphysema C0032915 \| pre-excitation C0030591 \| paroxysmal ventricular tachycardia C0027051 \| myocardial infarction C0027051 \| myocardial infarct C0024796 \| marfan's syndrome C0021308 \| infarction C0013384 \| dyskinesia C0011981 \| diaphragmatic eventration C0002963 \| prinzmetal's angina
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:10) C0232197 \| fibrillation \| 12 C0039231 \| tachycardia \| 8 C0042510 \| ventricular fibrillation \| 2 C0039240 \| supraventricular tachycardia \| 2 C0340493 \| idiopathic ventricular fibrillation \| 1 C0007194 \| hypertrophic cardiomyopathy \| 1 C0039070 \| syncope \| 1 C0340477 \| atrioventricular reentrant tachycardia \| 1 C0012817 \| diverticulum \| 1 C0242514 \| reciprocating tachycardia \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:5)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121908987	20031621	51422	PRKAG2	umls:C0043202	BeFree	Humans with an R302Q mutation in AMPKgamma(2) (the PRKAG2 gene) develop a glycogen storage cardiomyopathy characterized by a familial form of Wolff-Parkinson-White syndrome and cardiac hypertrophy.	0.366253095	2009	PRKAG2	7	151576412	C	T,A
rs121908987	15611370	7453	WARS	umls:C0043202	BeFree	We identified a gene (PRKAG2) that encodes the gamma-2 regulatory subunit of AMP-activated protein kinase (AMPK) with a mutation (Arg302Gln) responsible for familial Wolff-Parkinson-White (WPW) syndrome.	0.001085767	2005	PRKAG2	7	151576412	C	T,A
rs121908987	15611370	51422	PRKAG2	umls:C0043202	BeFree	We identified a gene (PRKAG2) that encodes the gamma-2 regulatory subunit of AMP-activated protein kinase (AMPK) with a mutation (Arg302Gln) responsible for familial Wolff-Parkinson-White (WPW) syndrome.	0.366253095	2005	PRKAG2	7	151576412	C	T,A
rs121908987	NA	51422	PRKAG2	umls:C0043202	CLINVAR	NA	0.366253095	NA	PRKAG2	7	151576412	C	T,A
rs121908991	15877279	51422	PRKAG2	umls:C0043202	BeFree	Thus, recurrent heterozygous R531Q missense mutations in PRKAG2 give rise to a massive nonlysosomal cardiac glycogenosis of fetal symptomatic onset and rapidly fatal course, constituting a genotypically and clinically distinct variant of hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome.	0.366253095	2005	PRKAG2	7	151560610	C	T,A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:3)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0005165	Shortened PR interval	MP:0011953	prolonged PQ interval	increase in the length of time between the beginning of atrial depolarization and the end of atrial repolarization (or recovery), measured by the interval from the beginning of the P wave to the end of the Q wave
HP:0004757	Paroxysmal atrial fibrillation	MP:0010403	atrial septal defect	abnormal communications between the two upper chambers of the heart, including such defects in any or all of the ostium primum, ostium secundum, sinus venosus, and coronary sinus regions
HP:0001645	Sudden cardiac death	MP:0012557	decreased calcium uptake by cardiac muscle	decreased directed movement of calcium ions into cardiac muscle; decreased or disrupted uptake may give rise to energetic deficit and oxidative stress. leading to cardiac disease

Mapped by homologous gene(Total Items:8)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0006677	Prolonged QRS complex	MP:0001363	increased anxiety-related response	when compared to controls, subjects exhibit more responses thought to be indicative of anxiety in behavioral tests
HP:0001645	Sudden cardiac death	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0004757	Paroxysmal atrial fibrillation	MP:0013603	abnormal fetal Leydig cell differentiation	atypical formation of or inability to produce the first or fetal population of Leydig cells (FLCs); in mice, FLCs arise in the testicular interstitium between E12.5 and E13.0, approximately 1 day after the appearance of Sertoli cells; Sertoli cells trigge
HP:0001297	Stroke	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0005165	Shortened PR interval	MP:0014074	increased brain glycogen level	greater than the normal concentration of a readily converted carbohydrate reserve in brain
HP:0001638	Cardiomyopathy	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0001962	Palpitations	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001716	Wolff-Parkinson-White syndrome	MP:0014074	increased brain glycogen level	greater than the normal concentration of a readily converted carbohydrate reserve in brain

Disease ID	290
Disease	wolff-parkinson-white syndrome
Case	(Waiting for update.)

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