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 generalized onset (HP:0025190)

Term ID:

25190

Name:

Bilateral tonic-clonic seizure with generalized onset

Synonym:

Bilateral tonic-clonic seizure with generalised onset; Generalised tonic-clonic seizure without focal onset; Generalised tonic-clonic seizure without partial onset; Generalised tonic-clonic seizures without focal onset; Generalised-onset tonic-clonic seizure; Generalized tonic-clonic seizure without focal onset; Generalized tonic-clonic seizure without partial onset; Generalized tonic-clonic seizures without focal onset; Generalized-onset tonic-clonic seizure; Primarily generalised tonic-clonic seizures; Primarily generalized tonic-clonic seizures; Primary generalised tonic-clonic seizure; Primary generalised tonic-clonic seizures; Primary generalized tonic-clonic seizure; Primary generalized tonic-clonic seizures

Definition:

A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.

Comments:

Reference:

HP:0025190

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

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

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:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040282 - Frequent	88
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040283 - Occasional	78
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	CACNB4 CL E G H	785	1404	ORPHA:307	Juvenile myoclonic epilepsy		146
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	227
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	CILK1 CL E G H	22858	21219	ORPHA:307	Juvenile myoclonic epilepsy
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	CLCN2 CL E G H	1181	2020	ORPHA:307	Juvenile myoclonic epilepsy		44
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040282 - Frequent	1
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	EFHC1 CL E G H	114327	16406	ORPHA:307	Juvenile myoclonic epilepsy		153
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB		1
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome		134
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	GABRA1 CL E G H	2554	4075	ORPHA:307	Juvenile myoclonic epilepsy		134
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	GABRD CL E G H	2563	4084	ORPHA:307	Juvenile myoclonic epilepsy		10
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome		139
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040282 - Frequent	434
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	JRK CL E G H	8629	6199	ORPHA:307	Juvenile myoclonic epilepsy
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	KCNQ3 CL E G H	3786	6297	ORPHA:307	Juvenile myoclonic epilepsy		302
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	52
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome		225
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040282 - Frequent	948
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040283 - Occasional	53
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome		1053
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	1053
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome		126
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome		427
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome		318
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	66
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	255
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	29
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type		93
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	108
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040282 - Frequent	271
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS		2
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	3
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	84
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	57
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	102
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	278
HP:0025190	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0025190	HP:0032661	Generalized convulsive status epilepticus	1	CL E G H
HP:0025190	HP:0007207	Photosensitive tonic-clonic seizure	1	CACNB4 CL E G H	785	1404	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional	146
HP:0025190	HP:0007207	Photosensitive tonic-clonic seizure	1	CILK1 CL E G H	22858	21219	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional
HP:0025190	HP:0007207	Photosensitive tonic-clonic seizure	1	CLCN2 CL E G H	1181	2020	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional	44
HP:0025190	HP:0007207	Photosensitive tonic-clonic seizure	1	EFHC1 CL E G H	114327	16406	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional	153
HP:0025190	HP:0007207	Photosensitive tonic-clonic seizure	1	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	134
HP:0025190	HP:0007207	Photosensitive tonic-clonic seizure	1	GABRA1 CL E G H	2554	4075	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional	134
HP:0025190	HP:0007207	Photosensitive tonic-clonic seizure	1	GABRD CL E G H	2563	4084	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional	10
HP:0025190	HP:0007207	Photosensitive tonic-clonic seizure	1	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	139
HP:0025190	HP:0007207	Photosensitive tonic-clonic seizure	1	JRK CL E G H	8629	6199	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional
HP:0025190	HP:0007207	Photosensitive tonic-clonic seizure	1	KCNQ3 CL E G H	3786	6297	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional	302
HP:0025190	HP:0007207	Photosensitive tonic-clonic seizure	1	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	225
HP:0025190	HP:0007207	Photosensitive tonic-clonic seizure	1	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	1053
HP:0025190	HP:0007207	Photosensitive tonic-clonic seizure	1	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	126
HP:0025190	HP:0007207	Photosensitive tonic-clonic seizure	1	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	427
HP:0025190	HP:0007207	Photosensitive tonic-clonic seizure	1	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	318
HP:0025190	HP:0007207	Photosensitive tonic-clonic seizure	1	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.	93

Genes (44) :ADGRG1 AP2M1 ASAH1 CACNB4 CHD2 CILK1 CLCN2 COQ5 COX8A CPLX1 EFHC1 EXOC8 GABRA1 GABRA5 GABRD GABRG2 GAD1 GBA1 GRIN2A JRK KCNQ3 NARS1 NEXMIF PCDH19 PCYT2 PTEN PURA SCN1A SCN1B SCN2A SCN9A SEPSECS SLC2A1 SLC6A1 SLC9A6 SYNGAP1 TBC1D24 TMX2 TSEN15 TSEN2 TSEN34 TSEN54 UBE3A VPS53

Diseases (22) :ORPHA:101070 ORPHA:1942 ORPHA:2590 ORPHA:307 OMIM:619028 OMIM:619059 ORPHA:352582 OMIM:619076 ORPHA:33069 OMIM:618559 OMIM:619124 ORPHA:2072 ORPHA:98818 OMIM:619091 OMIM:619092 OMIM:618770 ORPHA:314655 ORPHA:2524 OMIM:300243 OMIM:618730 ORPHA:98795 OMIM:615851

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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