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:
Seizure (HP:0001250)

Parent Node:
Generalized-onset seizure (HP:0002197)

..Starting node
..Generalized tonic seizure (HP:0010818)

Term ID:

10818

Name:

Generalized tonic seizure

Synonym:

Generalised hypertonic seizure; Generalised tonic seizure; Generalised tonic seizures; Generalized hypertonic seizure; Generalized tonic seizures; Hypertonic seizures

Definition:

A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.

Comments:

Reference:

HP:0010818

Genes and Diseases:

Child Nodes:

Sister Nodes:

Atonic seizure (HP:0010819)

Bilateral tonic-clonic seizure (HP:0002069)

Generalized clonic seizure (HP:0011169)

Generalized myoclonic seizure (HP:0002123)

Generalized non-motor (absence) seizure (HP:0002121)

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:0010818	HP:0010818	Generalized tonic seizure	0	ADGRV1 CL E G H	84059	17416	OMIM:604352	Febrile seizures, familial, 4	.	530
HP:0010818	HP:0010818	Generalized tonic seizure	0	ARHGEF9 CL E G H	23229	14561	ORPHA:163985	Hyperekplexia-epilepsy syndrome	HP:0040282 - Frequent	45
HP:0010818	HP:0010818	Generalized tonic seizure	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0010818	HP:0010818	Generalized tonic seizure	0	CACNA1A CL E G H	773	1388	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent	449
HP:0010818	HP:0010818	Generalized tonic seizure	0	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9		146
HP:0010818	HP:0010818	Generalized tonic seizure	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	118
HP:0010818	HP:0010818	Generalized tonic seizure	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040281 - Very frequent	405
HP:0010818	HP:0010818	Generalized tonic seizure	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	405
HP:0010818	HP:0010818	Generalized tonic seizure	0	CHD2 CL E G H	1106	1917	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent	227
HP:0010818	HP:0010818	Generalized tonic seizure	0	COG2 CL E G H	22796	6546	ORPHA:435934	COG2-CDG	HP:0040281 - Very frequent	2
HP:0010818	HP:0010818	Generalized tonic seizure	0	COG2 CL E G H	22796	6546	OMIM:617395	Congenital disorder of glycosylation, type IIq		2
HP:0010818	HP:0010818	Generalized tonic seizure	0	CUX2 CL E G H	23316	19347	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent
HP:0010818	HP:0010818	Generalized tonic seizure	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0010818	HP:0010818	Generalized tonic seizure	0	DNM1 CL E G H	1759	2972	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent	72
HP:0010818	HP:0010818	Generalized tonic seizure	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent	11
HP:0010818	HP:0010818	Generalized tonic seizure	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0010818	HP:0010818	Generalized tonic seizure	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38		60
HP:0010818	HP:0010818	Generalized tonic seizure	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040284 - Very rare	134
HP:0010818	HP:0010818	Generalized tonic seizure	0	GABRB3 CL E G H	2562	4083	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent	57
HP:0010818	HP:0010818	Generalized tonic seizure	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040284 - Very rare	139
HP:0010818	HP:0010818	Generalized tonic seizure	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	36
HP:0010818	HP:0010818	Generalized tonic seizure	0	GNAO1 CL E G H	2775	4389	OMIM:615473	Epileptic encephalopathy, early infantile, 17	.	36
HP:0010818	HP:0010818	Generalized tonic seizure	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0010818	HP:0010818	Generalized tonic seizure	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional	108
HP:0010818	HP:0010818	Generalized tonic seizure	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0010818	HP:0010818	Generalized tonic seizure	0	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040283 - Occasional	434
HP:0010818	HP:0010818	Generalized tonic seizure	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0010818	HP:0010818	Generalized tonic seizure	0	HCN2 CL E G H	610	4846	OMIM:602477	Febrile seizures, familial, 2	.	7
HP:0010818	HP:0010818	Generalized tonic seizure	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0010818	HP:0010818	Generalized tonic seizure	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	145
HP:0010818	HP:0010818	Generalized tonic seizure	0	KCNQ2 CL E G H	3785	6296	ORPHA:306	Benign familial infantile epilepsy	HP:0040282 - Frequent	528
HP:0010818	HP:0010818	Generalized tonic seizure	0	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040282 - Frequent	528
HP:0010818	HP:0010818	Generalized tonic seizure	0	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy	HP:0040281 - Very frequent	528
HP:0010818	HP:0010818	Generalized tonic seizure	0	KCNQ3 CL E G H	3786	6297	ORPHA:306	Benign familial infantile epilepsy	HP:0040282 - Frequent	302
HP:0010818	HP:0010818	Generalized tonic seizure	0	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040282 - Frequent	302
HP:0010818	HP:0010818	Generalized tonic seizure	0	MAPK10 CL E G H	5602	6872	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent	61
HP:0010818	HP:0010818	Generalized tonic seizure	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51		4
HP:0010818	HP:0010818	Generalized tonic seizure	0	NECAP1 CL E G H	25977	24539	OMIM:615833	Epileptic encephalopathy, early infantile, 21		1
HP:0010818	HP:0010818	Generalized tonic seizure	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional
HP:0010818	HP:0010818	Generalized tonic seizure	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040283 - Occasional	231
HP:0010818	HP:0010818	Generalized tonic seizure	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040284 - Very rare	225
HP:0010818	HP:0010818	Generalized tonic seizure	0	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability	HP:0040282 - Frequent	225
HP:0010818	HP:0010818	Generalized tonic seizure	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0010818	HP:0010818	Generalized tonic seizure	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0010818	HP:0010818	Generalized tonic seizure	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040282 - Frequent	12
HP:0010818	HP:0010818	Generalized tonic seizure	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	244
HP:0010818	HP:0010818	Generalized tonic seizure	0	PRRT2 CL E G H	112476	30500	ORPHA:306	Benign familial infantile epilepsy	HP:0040282 - Frequent	94
HP:0010818	HP:0010818	Generalized tonic seizure	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0010818	HP:0010818	Generalized tonic seizure	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0010818	HP:0010818	Generalized tonic seizure	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040284 - Very rare	1053
HP:0010818	HP:0010818	Generalized tonic seizure	0	SCN1A CL E G H	6323	10585	OMIM:604403	Generalized epilepsy with febrile seizures plus, type 2	.	1053
HP:0010818	HP:0010818	Generalized tonic seizure	0	SCN1A CL E G H	6323	10585	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent	1053
HP:0010818	HP:0010818	Generalized tonic seizure	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040284 - Very rare	126
HP:0010818	HP:0010818	Generalized tonic seizure	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	126
HP:0010818	HP:0010818	Generalized tonic seizure	0	SCN2A CL E G H	6326	10588	ORPHA:306	Benign familial infantile epilepsy	HP:0040282 - Frequent	427
HP:0010818	HP:0010818	Generalized tonic seizure	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040284 - Very rare	427
HP:0010818	HP:0010818	Generalized tonic seizure	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	427
HP:0010818	HP:0010818	Generalized tonic seizure	0	SCN8A CL E G H	6334	10596	ORPHA:306	Benign familial infantile epilepsy	HP:0040282 - Frequent	357
HP:0010818	HP:0010818	Generalized tonic seizure	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040284 - Very rare	318
HP:0010818	HP:0010818	Generalized tonic seizure	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	11
HP:0010818	HP:0010818	Generalized tonic seizure	0	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41		3
HP:0010818	HP:0010818	Generalized tonic seizure	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0010818	HP:0010818	Generalized tonic seizure	0	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4	.	237
HP:0010818	HP:0010818	Generalized tonic seizure	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0010818	HP:0010818	Generalized tonic seizure	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040282 - Frequent	16
HP:0010818	HP:0010818	Generalized tonic seizure	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0010818	HP:0010818	Generalized tonic seizure	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0010818	HP:0010818	Generalized tonic seizure	0	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC

Genes (54) :ADGRV1 ARHGEF9 ARX CACNA1A CACNB4 CASK CDKL5 CHD2 COG2 CUX2 DMXL2 DNM1 DOCK7 DPM1 EEF1A2 GABRA1 GABRB3 GABRG2 GNAO1 GNB1 GRIN1 GRIN2A GRM7 HCN2 KARS1 KCNA1 KCNQ2 KCNQ3 MAPK10 MDH2 NECAP1 NEUROD2 PAFAH1B1 PCDH19 PIGP PIGQ PIGT PNKP PRRT2 RPL10 SATB1 SCN1A SCN1B SCN2A SCN8A SCN9A SIK1 SLC1A2 SLC25A22 STXBP1 TANGO2 TBCD TRIM8 VPS50

Diseases (35) :OMIM:604352 ORPHA:163985 ORPHA:1934 ORPHA:2382 OMIM:607682 ORPHA:505652 ORPHA:435934 OMIM:617395 ORPHA:411986 ORPHA:79322 OMIM:616393 ORPHA:33069 OMIM:615473 OMIM:616973 ORPHA:208447 ORPHA:289266 OMIM:602477 OMIM:619147 ORPHA:306 ORPHA:1949 ORPHA:439218 OMIM:617339 OMIM:615833 ORPHA:95232 ORPHA:101039 ORPHA:369837 ORPHA:459070 OMIM:619229 OMIM:604403 OMIM:617105 OMIM:612164 ORPHA:480864 ORPHA:496641 OMIM:617193 OMIM:619685

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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