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
..Torsade de pointes (HP:0001664)

Term ID:

1664

Name:

Torsade de pointes

Synonym:

Torsades de pointes

Definition:

A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG.

Comments:

Reference:

HP:0001664

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bidirectional ventricular ectopy (HP:0005147)

Premature ventricular contraction (HP:0006682)

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:0001664	HP:0001664	Torsade de pointes	0	AKAP9 CL E G H	10142	379	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	289
HP:0001664	HP:0001664	Torsade de pointes	0	ALG10B CL E G H	144245	31088	OMIM:613688	Long QT syndrome 2	.	3
HP:0001664	HP:0001664	Torsade de pointes	0	ANK2 CL E G H	287	493	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	539
HP:0001664	HP:0001664	Torsade de pointes	0	CACNA1C CL E G H	775	1390	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	572
HP:0001664	HP:0001664	Torsade de pointes	0	CALM1 CL E G H	801	1442	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	18
HP:0001664	HP:0001664	Torsade de pointes	0	CALM2 CL E G H	805	1445	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	13
HP:0001664	HP:0001664	Torsade de pointes	0	CALM3 CL E G H	808	1449	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	16
HP:0001664	HP:0001664	Torsade de pointes	0	CAV3 CL E G H	859	1529	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	148
HP:0001664	HP:0001664	Torsade de pointes	0	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2		185
HP:0001664	HP:0001664	Torsade de pointes	0	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040282 - Frequent	148
HP:0001664	HP:0001664	Torsade de pointes	0	KCNE1 CL E G H	3753	6240	OMIM:612347	Jervell and lange-nielsen syndrome 2	.	148
HP:0001664	HP:0001664	Torsade de pointes	0	KCNE1 CL E G H	3753	6240	OMIM:613695	Long QT syndrome 5	.	148
HP:0001664	HP:0001664	Torsade de pointes	0	KCNE1 CL E G H	3753	6240	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	148
HP:0001664	HP:0001664	Torsade de pointes	0	KCNE2 CL E G H	9992	6242	OMIM:613693	Long QT syndrome 6	.	43
HP:0001664	HP:0001664	Torsade de pointes	0	KCNE2 CL E G H	9992	6242	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	43
HP:0001664	HP:0001664	Torsade de pointes	0	KCNH2 CL E G H	3757	6251	OMIM:613688	Long QT syndrome 2	.	901
HP:0001664	HP:0001664	Torsade de pointes	0	KCNH2 CL E G H	3757	6251	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	901
HP:0001664	HP:0001664	Torsade de pointes	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	193
HP:0001664	HP:0001664	Torsade de pointes	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	128
HP:0001664	HP:0001664	Torsade de pointes	0	KCNJ5 CL E G H	3762	6266	OMIM:613485	Long QT syndrome 13		128
HP:0001664	HP:0001664	Torsade de pointes	0	KCNJ5 CL E G H	3762	6266	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	128
HP:0001664	HP:0001664	Torsade de pointes	0	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040282 - Frequent	730
HP:0001664	HP:0001664	Torsade de pointes	0	KCNQ1 CL E G H	3784	6294	OMIM:220400	Jervell and lange-nielsen syndrome 1	.	730
HP:0001664	HP:0001664	Torsade de pointes	0	KCNQ1 CL E G H	3784	6294	OMIM:192500	LONG QT SYNDROME 1; LQT1		730
HP:0001664	HP:0001664	Torsade de pointes	0	KCNQ1 CL E G H	3784	6294	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	730
HP:0001664	HP:0001664	Torsade de pointes	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0001664	HP:0001664	Torsade de pointes	0	NOS1AP CL E G H	9722	16859	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	4
HP:0001664	HP:0001664	Torsade de pointes	0	RYR2 CL E G H	6262	10484	OMIM:115000	CARDIAC ARRHYTHMIA		1103
HP:0001664	HP:0001664	Torsade de pointes	0	SCN10A CL E G H	6336	10582	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	146
HP:0001664	HP:0001664	Torsade de pointes	0	SCN4B CL E G H	6330	10592	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	110
HP:0001664	HP:0001664	Torsade de pointes	0	SCN5A CL E G H	6331	10593	OMIM:603830	Long QT syndrome 3	.	1134
HP:0001664	HP:0001664	Torsade de pointes	0	SCN5A CL E G H	6331	10593	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	1134
HP:0001664	HP:0001664	Torsade de pointes	0	SNTA1 CL E G H	6640	11167	OMIM:612955	Long QT syndrome 12		118
HP:0001664	HP:0001664	Torsade de pointes	0	SNTA1 CL E G H	6640	11167	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	118
HP:0001664	HP:0001664	Torsade de pointes	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0001664	HP:0001664	Torsade de pointes	0	TBX5 CL E G H	6910	11604	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	123
HP:0001664	HP:0001664	Torsade de pointes	0	TRDN CL E G H	10345	12261	ORPHA:101016	Romano-Ward syndrome	HP:0040283 - Occasional	145

Genes (25) :AKAP9 ALG10B ANK2 CACNA1C CALM1 CALM2 CALM3 CAV3 HCN4 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1 NAA10 NOS1AP RYR2 SCN10A SCN4B SCN5A SNTA1 TANGO2 TBX5 TRDN

Diseases (16) :ORPHA:101016 OMIM:613688 OMIM:163800 ORPHA:90647 OMIM:612347 OMIM:613695 OMIM:613693 ORPHA:37553 OMIM:613485 OMIM:220400 OMIM:192500 OMIM:300855 OMIM:115000 OMIM:603830 OMIM:612955 OMIM:616878

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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