Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Arrhythmia (HP:0011675)

Parent Node:
Ventricular arrhythmia (HP:0004308)

..Starting node
..Premature ventricular contraction (HP:0006682)

Term ID:

6682

Name:

Premature ventricular contraction

Synonym:

Extra heart beat; Missed heartbeat; Premature ventricular beat; Premature ventricular contractions; Skipped heartbeat; Ventricular ectopics; Ventricular extrasystoles; Ventricular premature beat

Definition:

Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.

Comments:

Reference:

HP:0006682

Genes and Diseases:

Child Nodes:

........

Polymorphic and polytopic ventricular extrasystoles (HP:0006696)

Sister Nodes:

Bidirectional ventricular ectopy (HP:0005147)

Torsade de pointes (HP:0001664)

Ventricular escape rhythm (HP:0005155)

Ventricular fibrillation (HP:0001663)

Ventricular preexcitation (HP:0004309)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006682	HP:0006682	Premature ventricular contraction	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040283 - Occasional	247
HP:0006682	HP:0006682	Premature ventricular contraction	0	CALM1 CL E G H	801	1442	OMIM:614916	Ventricular tachycardia, catecholaminergic polymorphic, 4		18
HP:0006682	HP:0006682	Premature ventricular contraction	0	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15		13
HP:0006682	HP:0006682	Premature ventricular contraction	0	CASQ2 CL E G H	845	1513	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		129
HP:0006682	HP:0006682	Premature ventricular contraction	0	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0006682	HP:0006682	Premature ventricular contraction	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0006682	HP:0006682	Premature ventricular contraction	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0006682	HP:0006682	Premature ventricular contraction	0	DPP6 CL E G H	1804	3010	OMIM:612956	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF2		18
HP:0006682	HP:0006682	Premature ventricular contraction	0	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10		358
HP:0006682	HP:0006682	Premature ventricular contraction	0	DSP CL E G H	1832	3052	OMIM:607450	Arrhythmogenic right ventricular dysplasia, familial, 8		747
HP:0006682	HP:0006682	Premature ventricular contraction	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease		222
HP:0006682	HP:0006682	Premature ventricular contraction	0	KCNE1 CL E G H	3753	6240	OMIM:612347	Jervell and lange-nielsen syndrome 2		148
HP:0006682	HP:0006682	Premature ventricular contraction	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0006682	HP:0006682	Premature ventricular contraction	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	193
HP:0006682	HP:0006682	Premature ventricular contraction	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	128
HP:0006682	HP:0006682	Premature ventricular contraction	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0006682	HP:0006682	Premature ventricular contraction	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0006682	HP:0006682	Premature ventricular contraction	0	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9		406
HP:0006682	HP:0006682	Premature ventricular contraction	0	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040283 - Occasional	1200
HP:0006682	HP:0006682	Premature ventricular contraction	0	RYR2 CL E G H	6262	10484	OMIM:115000	CARDIAC ARRHYTHMIA		1103
HP:0006682	HP:0006682	Premature ventricular contraction	0	RYR2 CL E G H	6262	10484	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		1103
HP:0006682	HP:0006682	Premature ventricular contraction	0	SCN5A CL E G H	6331	10593	OMIM:601154	Cardiomyopathy, dilated, 1E		1134
HP:0006682	HP:0006682	Premature ventricular contraction	0	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency		40
HP:0006682	HP:0006682	Premature ventricular contraction	0	TECRL CL E G H	253017	27365	OMIM:614021	Ventricular tachycardia, catecholaminergic polymorphic, 3		4
HP:0006682	HP:0006682	Premature ventricular contraction	0	TMEM43 CL E G H	79188	28472	OMIM:604400	Arrhythmogenic right ventricular dysplasia, familial, 5		171
HP:0006682	HP:0006682	Premature ventricular contraction	0	TNNI3K CL E G H	51086	19661	OMIM:616117	Cardiac conduction disease with or without dilated cardiomyopathy		1
HP:0006682	HP:0006682	Premature ventricular contraction	0	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0006682	HP:0006682	Premature ventricular contraction	0	TRDN CL E G H	10345	12261	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		145
HP:0006682	HP:0006682	Premature ventricular contraction	0	TRDN CL E G H	10345	12261	OMIM:615441	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS; CPVT5		145
HP:0006682	HP:0034041	Ventricular ectopy	1	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15		13
HP:0006682	HP:0034041	Ventricular ectopy	1	CASQ2 CL E G H	845	1513	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		129
HP:0006682	HP:0005147	Bidirectional ventricular ectopy	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0006682	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	1	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	193
HP:0006682	HP:0005147	Bidirectional ventricular ectopy	1	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	193
HP:0006682	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	1	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	128
HP:0006682	HP:0005147	Bidirectional ventricular ectopy	1	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	128
HP:0006682	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	1	RYR2 CL E G H	6262	10484	OMIM:115000	CARDIAC ARRHYTHMIA		1103
HP:0006682	HP:0034041	Ventricular ectopy	1	RYR2 CL E G H	6262	10484	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		1103
HP:0006682	HP:0034041	Ventricular ectopy	1	TRDN CL E G H	10345	12261	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		145
HP:0006682	HP:0034039	Ventricular couplet	2	CASQ2 CL E G H	845	1513	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		129
HP:0006682	HP:0034039	Ventricular couplet	2	RYR2 CL E G H	6262	10484	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		1103
HP:0006682	HP:0034039	Ventricular couplet	2	TRDN CL E G H	10345	12261	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		145

Genes (26) :CACNA1S CALM1 CALM2 CASQ2 CDH2 CNBP DOHH DPP6 DSG2 DSP JUP KCNE1 KCNJ2 KCNJ5 NAA10 NFIX PKP2 RYR1 RYR2 SCN5A SLC25A20 TECRL TMEM43 TNNI3K TOR1AIP1 TRDN

Diseases (25) :ORPHA:423 OMIM:614916 OMIM:616249 OMIM:604772 OMIM:618920 OMIM:602668 OMIM:620066 OMIM:612956 OMIM:610193 OMIM:607450 OMIM:601214 OMIM:612347 OMIM:170390 ORPHA:37553 OMIM:300855 OMIM:602535 OMIM:609040 OMIM:115000 OMIM:601154 OMIM:212138 OMIM:614021 OMIM:604400 OMIM:616117 OMIM:617072 OMIM:615441

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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