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
..Ventricular fibrillation (HP:0001663)

Term ID:

1663

Name:

Ventricular fibrillation

Synonym:

Definition:

Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.

Comments:

Reference:

HP:0001663

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bidirectional ventricular ectopy (HP:0005147)

Premature ventricular contraction (HP:0006682)

Torsade de pointes (HP:0001664)

Ventricular escape rhythm (HP:0005155)

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:0001663	HP:0001663	Ventricular fibrillation	0	ABCC9 CL E G H	10060	60	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	254
HP:0001663	HP:0001663	Ventricular fibrillation	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare	200
HP:0001663	HP:0001663	Ventricular fibrillation	0	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11		208
HP:0001663	HP:0001663	Ventricular fibrillation	0	AKAP9 CL E G H	10142	379	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	289
HP:0001663	HP:0001663	Ventricular fibrillation	0	ALG10B CL E G H	144245	31088	OMIM:613688	Long QT syndrome 2	.	3
HP:0001663	HP:0001663	Ventricular fibrillation	0	BAG5 CL E G H	9529	941	OMIM:619747	CARDIOMYOPATHY, DILATED, 2F; CMD2F
HP:0001663	HP:0001663	Ventricular fibrillation	0	CACNA1C CL E G H	775	1390	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	572
HP:0001663	HP:0001663	Ventricular fibrillation	0	CACNA1C CL E G H	775	1390	OMIM:618447	LONG QT SYNDROME 8; LQT8		572
HP:0001663	HP:0001663	Ventricular fibrillation	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040283 - Occasional	247
HP:0001663	HP:0001663	Ventricular fibrillation	0	CACNA2D1 CL E G H	781	1399	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	59
HP:0001663	HP:0001663	Ventricular fibrillation	0	CACNA2D1 CL E G H	781	1399	ORPHA:51083	Familial short QT syndrome	HP:0040283 - Occasional	59
HP:0001663	HP:0001663	Ventricular fibrillation	0	CACNB2 CL E G H	783	1402	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	206
HP:0001663	HP:0001663	Ventricular fibrillation	0	CALM1 CL E G H	801	1442	OMIM:616247	Long QT syndrome 14		18
HP:0001663	HP:0001663	Ventricular fibrillation	0	CALM1 CL E G H	801	1442	OMIM:614916	Ventricular tachycardia, catecholaminergic polymorphic, 4		18
HP:0001663	HP:0001663	Ventricular fibrillation	0	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15	.	13
HP:0001663	HP:0001663	Ventricular fibrillation	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0001663	HP:0001663	Ventricular fibrillation	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0001663	HP:0001663	Ventricular fibrillation	0	DPP6 CL E G H	1804	3010	OMIM:612956	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF2		18
HP:0001663	HP:0001663	Ventricular fibrillation	0	DSP CL E G H	1832	3052	OMIM:607450	Arrhythmogenic right ventricular dysplasia, familial, 8	.	747
HP:0001663	HP:0001663	Ventricular fibrillation	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040283 - Occasional
HP:0001663	HP:0001663	Ventricular fibrillation	0	GPD1L CL E G H	23171	28956	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	97
HP:0001663	HP:0001663	Ventricular fibrillation	0	GPD1L CL E G H	23171	28956	OMIM:611777	BRUGADA SYNDROME 2; BRGDA2		97
HP:0001663	HP:0001663	Ventricular fibrillation	0	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent	18
HP:0001663	HP:0001663	Ventricular fibrillation	0	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV		18
HP:0001663	HP:0001663	Ventricular fibrillation	0	HCN4 CL E G H	10021	16882	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	185
HP:0001663	HP:0001663	Ventricular fibrillation	0	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2	HP:0040283 - Occasional	185
HP:0001663	HP:0001663	Ventricular fibrillation	0	KCND3 CL E G H	3752	6239	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	35
HP:0001663	HP:0001663	Ventricular fibrillation	0	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040283 - Occasional	148
HP:0001663	HP:0001663	Ventricular fibrillation	0	KCNE1 CL E G H	3753	6240	OMIM:613695	Long QT syndrome 5	.	148
HP:0001663	HP:0001663	Ventricular fibrillation	0	KCNE2 CL E G H	9992	6242	OMIM:613693	Long QT syndrome 6	.	43
HP:0001663	HP:0001663	Ventricular fibrillation	0	KCNE3 CL E G H	10008	6243	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	73
HP:0001663	HP:0001663	Ventricular fibrillation	0	KCNE3 CL E G H	10008	6243	OMIM:613119	BRUGADA SYNDROME 6; BRGDA6		73
HP:0001663	HP:0001663	Ventricular fibrillation	0	KCNE5 CL E G H	23630	6241	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	5
HP:0001663	HP:0001663	Ventricular fibrillation	0	KCNH2 CL E G H	3757	6251	ORPHA:51083	Familial short QT syndrome	HP:0040283 - Occasional	901
HP:0001663	HP:0001663	Ventricular fibrillation	0	KCNH2 CL E G H	3757	6251	OMIM:613688	Long QT syndrome 2	.	901
HP:0001663	HP:0001663	Ventricular fibrillation	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040283 - Occasional	10
HP:0001663	HP:0001663	Ventricular fibrillation	0	KCNJ2 CL E G H	3759	6263	ORPHA:51083	Familial short QT syndrome	HP:0040283 - Occasional	193
HP:0001663	HP:0001663	Ventricular fibrillation	0	KCNJ8 CL E G H	3764	6269	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	23
HP:0001663	HP:0001663	Ventricular fibrillation	0	KCNQ1 CL E G H	3784	6294	ORPHA:51083	Familial short QT syndrome	HP:0040283 - Occasional	730
HP:0001663	HP:0001663	Ventricular fibrillation	0	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040283 - Occasional	730
HP:0001663	HP:0001663	Ventricular fibrillation	0	KCNQ1 CL E G H	3784	6294	OMIM:192500	LONG QT SYNDROME 1; LQT1		730
HP:0001663	HP:0001663	Ventricular fibrillation	0	KCNQ1 CL E G H	3784	6294	OMIM:609621	Short QT syndrome 2	HP:0040283 - Occasional	730
HP:0001663	HP:0001663	Ventricular fibrillation	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4	.	1143
HP:0001663	HP:0001663	Ventricular fibrillation	0	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10	HP:0040283 - Occasional	131
HP:0001663	HP:0001663	Ventricular fibrillation	0	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8	.	95
HP:0001663	HP:0001663	Ventricular fibrillation	0	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3	.	3
HP:0001663	HP:0001663	Ventricular fibrillation	0	PKP2 CL E G H	5318	9024	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	406
HP:0001663	HP:0001663	Ventricular fibrillation	0	RANGRF CL E G H	29098	17679	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	22
HP:0001663	HP:0001663	Ventricular fibrillation	0	RYR2 CL E G H	6262	10484	OMIM:115000	CARDIAC ARRHYTHMIA		1103
HP:0001663	HP:0001663	Ventricular fibrillation	0	SCN10A CL E G H	6336	10582	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	146
HP:0001663	HP:0001663	Ventricular fibrillation	0	SCN1B CL E G H	6324	10586	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	126
HP:0001663	HP:0001663	Ventricular fibrillation	0	SCN1B CL E G H	6324	10586	OMIM:612838	BRUGADA SYNDROME 5; BRGDA5		126
HP:0001663	HP:0001663	Ventricular fibrillation	0	SCN2B CL E G H	6327	10589	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	21
HP:0001663	HP:0001663	Ventricular fibrillation	0	SCN3B CL E G H	55800	20665	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	122
HP:0001663	HP:0001663	Ventricular fibrillation	0	SCN5A CL E G H	6331	10593	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	1134
HP:0001663	HP:0001663	Ventricular fibrillation	0	SCN5A CL E G H	6331	10593	OMIM:601144	BRUGADA SYNDROME 1; BRGDA1		1134
HP:0001663	HP:0001663	Ventricular fibrillation	0	SCN5A CL E G H	6331	10593	OMIM:603830	Long QT syndrome 3	.	1134
HP:0001663	HP:0001663	Ventricular fibrillation	0	SCN5A CL E G H	6331	10593	OMIM:603829	Ventricular fibrillation, familial, 1	.	1134
HP:0001663	HP:0001663	Ventricular fibrillation	0	SCNN1A CL E G H	6337	10599	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	67
HP:0001663	HP:0001663	Ventricular fibrillation	0	SEMA3A CL E G H	10371	10723	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	14
HP:0001663	HP:0001663	Ventricular fibrillation	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0001663	HP:0001663	Ventricular fibrillation	0	SLC4A3 CL E G H	6508	11029	ORPHA:51083	Familial short QT syndrome	HP:0040283 - Occasional	7
HP:0001663	HP:0001663	Ventricular fibrillation	0	SLMAP CL E G H	7871	16643	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	18
HP:0001663	HP:0001663	Ventricular fibrillation	0	SNTA1 CL E G H	6640	11167	OMIM:612955	Long QT syndrome 12	.	118
HP:0001663	HP:0001663	Ventricular fibrillation	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	.	12
HP:0001663	HP:0001663	Ventricular fibrillation	0	TECRL CL E G H	253017	27365	OMIM:614021	Ventricular tachycardia, catecholaminergic polymorphic, 3		4
HP:0001663	HP:0001663	Ventricular fibrillation	0	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13	.	73
HP:0001663	HP:0001663	Ventricular fibrillation	0	TRPM4 CL E G H	54795	17993	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	124

Genes (52) :ABCC9 ACADVL ACTC1 AKAP9 ALG10B BAG5 CACNA1C CACNA1S CACNA2D1 CACNB2 CALM1 CALM2 CLCNKB DHCR7 DPP6 DSP GABRA3 GPD1L GYG1 HCN4 KCND3 KCNE1 KCNE2 KCNE3 KCNE5 KCNH2 KCNJ18 KCNJ2 KCNJ8 KCNQ1 MYBPC3 MYL2 MYL3 NDUFB11 PKP2 RANGRF RYR2 SCN10A SCN1B SCN2B SCN3B SCN5A SCNN1A SEMA3A SLC12A3 SLC4A3 SLMAP SNTA1 TANGO2 TECRL TNNC1 TRPM4

Diseases (38) :ORPHA:130 ORPHA:26793 OMIM:612098 OMIM:613688 OMIM:619747 OMIM:618447 ORPHA:79102 ORPHA:51083 OMIM:616247 OMIM:614916 OMIM:616249 ORPHA:358 OMIM:270400 OMIM:612956 OMIM:607450 OMIM:611777 ORPHA:263297 OMIM:613507 OMIM:163800 ORPHA:90647 OMIM:613695 OMIM:613693 OMIM:613119 OMIM:192500 OMIM:609621 OMIM:115197 OMIM:608758 OMIM:608751 OMIM:300952 OMIM:115000 OMIM:612838 OMIM:601144 OMIM:603830 OMIM:603829 OMIM:612955 OMIM:616878 OMIM:614021 OMIM:613243

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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