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:
Generalized-onset seizure (HP:0002197)

Parent Node:
Bilateral tonic-clonic seizure (HP:0002069)

..Starting node
..Bilateral tonic-clonic seizure with focal onset (HP:0007334)

Term ID:

7334

Name:

Bilateral tonic-clonic seizure with focal onset

Synonym:

Focal seizure with secondary generalisation; Focal seizure with secondary generalization; Focal to bilateral tonic-clonic seizure; Generalised tonic-clonic seizure with focal onset; Generalised tonic-clonic seizure with partial onset; Generalised tonic-clonic seizures with focal onset; Generalized tonic-clonic seizure with focal onset; Generalized tonic-clonic seizure with partial onset; Generalized tonic-clonic seizures with focal onset; Partial seizure with secondary generalisation; Partial seizure with secondary generalization; Partial seizures with secondary generalisation; Partial seizures with secondary generalization; Secondarily generalised tonic-clonic seizure; Secondarily generalised tonic-clonic seizures; Secondarily generalized tonic-clonic seizure; Secondary generalised tonic clonic seizures; Secondary generalised tonic-clonic seizures; Secondary generalized tonic clonic seizures; Secondary generalized tonic-clonic seizures

Definition:

A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.

Comments:

Reference:

HP:0007334

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bilateral tonic-clonic seizure on awakening (HP:0007193)

Bilateral tonic-clonic seizure with generalized onset (HP:0025190)

Photosensitive tonic-clonic seizure (HP:0007207)

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:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10		1
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent	54
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	DEPDC5 CL E G H	9681	18423	ORPHA:101046	Autosomal dominant epilepsy with auditory features	HP:0040284 - Very rare	172
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040283 - Occasional	83
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora	.	83
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy	HP:0040282 - Frequent	139
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	GAL CL E G H	51083	4114	OMIM:616461	Epilepsy, familial temporal lobe, 8		1
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD		434
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy	HP:0040282 - Frequent	434
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040282 - Frequent	434
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26		65
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2		127
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	KCNMA1 CL E G H	3778	6284	OMIM:617643	Cerebellar atrophy, developmental delay, and seizures	.	114
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	KCNQ2 CL E G H	3785	6296	ORPHA:306	Benign familial infantile epilepsy	HP:0040282 - Frequent	528
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	KCNQ3 CL E G H	3786	6297	ORPHA:306	Benign familial infantile epilepsy	HP:0040282 - Frequent	302
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions		106
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	LGI1 CL E G H	9211	6572	ORPHA:101046	Autosomal dominant epilepsy with auditory features	HP:0040284 - Very rare	75
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	LGI1 CL E G H	9211	6572	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		75
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	MICAL1 CL E G H	64780	20619	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040283 - Occasional	77
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora	.	77
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent	54
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	PRRT2 CL E G H	112476	30500	ORPHA:306	Benign familial infantile epilepsy	HP:0040282 - Frequent	94
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical		81
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040282 - Frequent	1
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	RELN CL E G H	5649	9957	ORPHA:101046	Autosomal dominant epilepsy with auditory features	HP:0040284 - Very rare	334
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	RELN CL E G H	5649	9957	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		334
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	SCN2A CL E G H	6326	10588	ORPHA:306	Benign familial infantile epilepsy	HP:0040282 - Frequent	427
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	SCN2A CL E G H	6326	10588	OMIM:607745	Seizures, benign familial infantile, 3	.	427
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	SCN8A CL E G H	6334	10596	ORPHA:306	Benign familial infantile epilepsy	HP:0040282 - Frequent	357
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13		357
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34		8
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	SLC22A5 CL E G H	6584	10969	ORPHA:158	Systemic primary carnitine deficiency	HP:0040281 - Very frequent	207
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy	HP:0040282 - Frequent	50
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040282 - Frequent	50
HP:0007334	HP:0007334	Bilateral tonic-clonic seizure with focal onset	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0007334	HP:0032662	Focal-onset seizure evolving into bilateral convulsive status epilepticus	1	CL E G H

Genes (34) :ADAM22 ATP1A2 CEP85L CNTNAP2 COQ2 DEPDC5 EPM2A GABRG2 GAL GRIN2A KCNB1 KCNJ11 KCNMA1 KCNQ2 KCNQ3 KCTD7 KDM6A KMT2D LGI1 MICAL1 NHLRC1 PDSS2 PPFIBP1 PRRT2 PSAP PUS3 RELN SCN2A SCN8A SLC12A5 SLC22A5 SLC38A3 SRPX2 TRIM8

Diseases (28) :OMIM:617933 OMIM:619605 OMIM:618873 ORPHA:163681 ORPHA:255249 ORPHA:101046 ORPHA:501 OMIM:254780 ORPHA:1945 OMIM:616461 OMIM:245570 ORPHA:163721 OMIM:616056 OMIM:618856 OMIM:617643 ORPHA:306 OMIM:611726 OMIM:147920 OMIM:600512 OMIM:620024 OMIM:610539 ORPHA:488627 OMIM:607745 OMIM:614558 OMIM:616645 ORPHA:158 OMIM:619881 OMIM:619428

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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