Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandHeart Defects, Congenital (D006330)
Parent Node:
expandPre-Excitation Syndromes (D011226)
..Starting node
..expandWolff-Parkinson-White Syndrome (D014927)

       Child Nodes:



 Sister Nodes: 
..expandLown-Ganong-Levine Syndrome (D008151)
..expandPre-Excitation, Mahaim-Type (D011227)
..expandWolff-Parkinson-White Syndrome (D014927)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:11776
Name: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.
Alternative IDs:OMIM:194200
ParentIDs:MESH:D006330|MESH:D011226
TreeNumbers:C14.280.067.780.977 |C16.131.240.400.980
Synonyms:ACCESSORY ATRIOVENTRICULAR PATHWAYS, INCLUDED |Anomalous Ventricular Excitation Syndrome |Auriculoventricular Accessory Pathway Syndrome |False Bundle-Branch Block Syndrome |Syndrome, Wolff-Parkinson-White |Syndrome, Wolf-Parkinson-White |Syndrome, WPW |Ventric
Slim Mappings:Cardiovascular disease|Congenital abnormality
Reference: MedGen: D014927
MeSH: D014927
OMIM: 194200;

Genes: PRKAG2;
Phenotypes
1 HP:0001638Cardiomyopathy
2 HP:0001962Palpitations
3 HP:0004757Paroxysmal atrial fibrillation
4 HP:0004763Paroxysmal supraventricular tachycardia
5 HP:0006677Prolonged QRS complex
6 HP:0005165Shortened PR interval
7 HP:0001297Stroke
8 HP:0001645Sudden cardiac death
9 HP:0006684Ventricular preexcitation with multiple accessory pathways
10 HP:0001716Wolff-Parkinson-White syndrome
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_016203.3(PRKAG2):c.905G>A (p.Arg302Gln)51422PRKAG2Pathogenic121908987RCV000007248; RCV000007249; RCV000211845; RCV000159005; NMedGen:C0043202,OMIM:194200,SNOMED CT:74390002; MedGen:C0949658, Orphanet:ORPHA155, Orphanet:ORPHA99739,SNOMED CT:83978005; MedGen:C1833236,OMIM:600858; MedGen:CN2218097151273498151273498NM_016203.3:c.905G>ANP_057287.2:p.Arg302GlnNC_000007.13:g.151273498C>TOMIM Allelic Variant:602743.0001C1833236 600858 Familial hypertrophic cardiomyopathy 6; CN221809 not provided; C0949658 Primary familial hypertrophic cardiomyopathy; C0043202 194200 Wolff-Parkinson-White pattern