Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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
..Atonic seizure (HP:0010819)

Term ID:

10819

Name:

Atonic seizure

Synonym:

Astatic seizure; Astatic seizures; Atonic seizures; Drop attacks; Drop seizures; Hypotonic seizure; Hypotonic seizures; Sudden loss of muscle tone

Definition:

Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.

Comments:

Reference:

HP:0010819

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bilateral tonic-clonic seizure (HP:0002069)

Generalized clonic seizure (HP:0011169)

Generalized myoclonic seizure (HP:0002123)

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

Generalized tonic seizure (HP:0010818)

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:0010819	HP:0010819	Atonic seizure	0	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040283 - Occasional	88
HP:0010819	HP:0010819	Atonic seizure	0	ADGRV1 CL E G H	84059	17416	OMIM:604352	Febrile seizures, familial, 4	.	530
HP:0010819	HP:0010819	Atonic seizure	0	ADGRV1 CL E G H	84059	17416	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	530
HP:0010819	HP:0010819	Atonic seizure	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional	19
HP:0010819	HP:0010819	Atonic seizure	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional	74
HP:0010819	HP:0010819	Atonic seizure	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	227
HP:0010819	HP:0010819	Atonic seizure	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36		96
HP:0010819	HP:0010819	Atonic seizure	0	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0010819	HP:0010819	Atonic seizure	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent
HP:0010819	HP:0010819	Atonic seizure	0	ARFGEF1 CL E G H	10565	15772	OMIM:619964
HP:0010819	HP:0010819	Atonic seizure	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0010819	HP:0010819	Atonic seizure	0	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040282 - Frequent	78
HP:0010819	HP:0010819	Atonic seizure	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040282 - Frequent	36
HP:0010819	HP:0010819	Atonic seizure	0	CACNA1A CL E G H	773	1388	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent	449
HP:0010819	HP:0010819	Atonic seizure	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0010819	HP:0010819	Atonic seizure	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	118
HP:0010819	HP:0010819	Atonic seizure	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	405
HP:0010819	HP:0010819	Atonic seizure	0	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10		1
HP:0010819	HP:0010819	Atonic seizure	0	CHD2 CL E G H	1106	1917	OMIM:615369	EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC		227
HP:0010819	HP:0010819	Atonic seizure	0	CHD2 CL E G H	1106	1917	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent	227
HP:0010819	HP:0010819	Atonic seizure	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	227
HP:0010819	HP:0010819	Atonic seizure	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0010819	HP:0010819	Atonic seizure	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	HP:0040283 - Occasional	12
HP:0010819	HP:0010819	Atonic seizure	0	CUX2 CL E G H	23316	19347	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent
HP:0010819	HP:0010819	Atonic seizure	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0010819	HP:0010819	Atonic seizure	0	DNM1 CL E G H	1759	2972	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent	72
HP:0010819	HP:0010819	Atonic seizure	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0010819	HP:0010819	Atonic seizure	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0010819	HP:0010819	Atonic seizure	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0010819	HP:0010819	Atonic seizure	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional	134
HP:0010819	HP:0010819	Atonic seizure	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040283 - Occasional	83
HP:0010819	HP:0010819	Atonic seizure	0	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional	4
HP:0010819	HP:0010819	Atonic seizure	0	GABRA1 CL E G H	2554	4075	OMIM:615744	Epileptic encephalopathy, early infantile, 19	.	134
HP:0010819	HP:0010819	Atonic seizure	0	GABRB3 CL E G H	2562	4083	OMIM:617113	Epileptic encephalopathy, early infantile, 43		57
HP:0010819	HP:0010819	Atonic seizure	0	GABRB3 CL E G H	2562	4083	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent	57
HP:0010819	HP:0010819	Atonic seizure	0	GABRD CL E G H	2563	4084	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	10
HP:0010819	HP:0010819	Atonic seizure	0	GABRG2 CL E G H	2566	4087	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	139
HP:0010819	HP:0010819	Atonic seizure	0	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2		91
HP:0010819	HP:0010819	Atonic seizure	0	GAMT CL E G H	2593	4136	ORPHA:382	Guanidinoacetate methyltransferase deficiency	HP:0040283 - Occasional	91
HP:0010819	HP:0010819	Atonic seizure	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	36
HP:0010819	HP:0010819	Atonic seizure	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0010819	HP:0010819	Atonic seizure	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0010819	HP:0010819	Atonic seizure	0	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6	.	88
HP:0010819	HP:0010819	Atonic seizure	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0010819	HP:0010819	Atonic seizure	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional	108
HP:0010819	HP:0010819	Atonic seizure	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0010819	HP:0010819	Atonic seizure	0	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional	434
HP:0010819	HP:0010819	Atonic seizure	0	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD		434
HP:0010819	HP:0010819	Atonic seizure	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0010819	HP:0010819	Atonic seizure	0	HCN1 CL E G H	348980	4845	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	54
HP:0010819	HP:0010819	Atonic seizure	0	HCN2 CL E G H	610	4846	OMIM:602477	Febrile seizures, familial, 2	.	7
HP:0010819	HP:0010819	Atonic seizure	0	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54		39
HP:0010819	HP:0010819	Atonic seizure	0	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1		119
HP:0010819	HP:0010819	Atonic seizure	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	145
HP:0010819	HP:0010819	Atonic seizure	0	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26		65
HP:0010819	HP:0010819	Atonic seizure	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0010819	HP:0010819	Atonic seizure	0	MAPK10 CL E G H	5602	6872	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent	61
HP:0010819	HP:0010819	Atonic seizure	0	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional	68
HP:0010819	HP:0010819	Atonic seizure	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional
HP:0010819	HP:0010819	Atonic seizure	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0010819	HP:0010819	Atonic seizure	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	52
HP:0010819	HP:0010819	Atonic seizure	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0010819	HP:0010819	Atonic seizure	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040283 - Occasional	77
HP:0010819	HP:0010819	Atonic seizure	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040283 - Occasional	231
HP:0010819	HP:0010819	Atonic seizure	0	PCDH19 CL E G H	57526	14270	OMIM:300088	Epileptic encephalopathy, early infantile, 9	.	225
HP:0010819	HP:0010819	Atonic seizure	0	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability	HP:0040283 - Occasional	225
HP:0010819	HP:0010819	Atonic seizure	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional	37
HP:0010819	HP:0010819	Atonic seizure	0	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency		6
HP:0010819	HP:0010819	Atonic seizure	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0010819	HP:0010819	Atonic seizure	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0010819	HP:0010819	Atonic seizure	0	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional	162
HP:0010819	HP:0010819	Atonic seizure	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	6
HP:0010819	HP:0010819	Atonic seizure	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	244
HP:0010819	HP:0010819	Atonic seizure	0	PRICKLE1 CL E G H	144165	17019	OMIM:612437	Epilepsy, progressive myoclonic 1B	.	133
HP:0010819	HP:0010819	Atonic seizure	0	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040283 - Occasional	948
HP:0010819	HP:0010819	Atonic seizure	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0010819	HP:0010819	Atonic seizure	0	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)		1053
HP:0010819	HP:0010819	Atonic seizure	0	SCN1A CL E G H	6323	10585	OMIM:604403	Generalized epilepsy with febrile seizures plus, type 2	.	1053
HP:0010819	HP:0010819	Atonic seizure	0	SCN1A CL E G H	6323	10585	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	1053
HP:0010819	HP:0010819	Atonic seizure	0	SCN1A CL E G H	6323	10585	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent	1053
HP:0010819	HP:0010819	Atonic seizure	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	1053
HP:0010819	HP:0010819	Atonic seizure	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	126
HP:0010819	HP:0010819	Atonic seizure	0	SCN1B CL E G H	6324	10586	OMIM:604233	Generalized epilepsy with febrile seizures plus, type 1	.	126
HP:0010819	HP:0010819	Atonic seizure	0	SCN1B CL E G H	6324	10586	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	126
HP:0010819	HP:0010819	Atonic seizure	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	427
HP:0010819	HP:0010819	Atonic seizure	0	SCN2A CL E G H	6326	10588	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	427
HP:0010819	HP:0010819	Atonic seizure	0	SCN9A CL E G H	6335	10597	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	318
HP:0010819	HP:0010819	Atonic seizure	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	11
HP:0010819	HP:0010819	Atonic seizure	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0010819	HP:0010819	Atonic seizure	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	255
HP:0010819	HP:0010819	Atonic seizure	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	29
HP:0010819	HP:0010819	Atonic seizure	0	STX1B CL E G H	112755	18539	OMIM:616172	Generalized epilepsy with febrile seizures plus, type 9	.	9
HP:0010819	HP:0010819	Atonic seizure	0	STX1B CL E G H	112755	18539	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional	9
HP:0010819	HP:0010819	Atonic seizure	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent	108
HP:0010819	HP:0010819	Atonic seizure	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0010819	HP:0020220	Focal atonic seizure	1	CL E G H
HP:0010819	HP:0032887	Generalized atonic seizure	1	CL E G H
HP:0010819	HP:0032728	Focal impaired awareness atonic seizure	2	CL E G H
HP:0010819	HP:0020218	Focal aware atonic seizure	2	CL E G H

Genes (77) :ADGRG1 ADGRV1 AKT3 ALDH4A1 ALDH7A1 ALG13 AP2M1 ARFGEF1 ARX ASAH1 ATP6AP2 CACNA1A CAMK2B CASK CDKL5 CEP85L CHD2 COX8A CSNK2A1 CUX2 DMXL2 DNM1 DOCK7 DOHH DPM1 DYRK1A EPM2A FRRS1L GABRA1 GABRB3 GABRD GABRG2 GAMT GNAO1 GNB1 GNB2 GOSR2 GPAA1 GRIN1 GRIN2A GRM7 HCN1 HCN2 HNRNPU IQSEC2 KCNA1 KCNB1 KCNC2 MAPK10 MTOR NEUROD2 NEXMIF NGLY1 NHLRC1 PAFAH1B1 PCDH19 PHGDH PIGM PIGP PIGQ PIK3CA PLPBP PNKP PRICKLE1 PTEN RUSC2 SCN1A SCN1B SCN2A SCN9A SIK1 SLC25A22 SLC2A1 SLC6A1 STX1B SYNGAP1 TRIM8

Diseases (53) :ORPHA:101070 OMIM:604352 ORPHA:36387 ORPHA:99802 ORPHA:79101 ORPHA:3006 OMIM:300884 OMIM:618587 ORPHA:1942 OMIM:619964 ORPHA:1934 ORPHA:2590 ORPHA:93952 ORPHA:2382 OMIM:617799 OMIM:618873 OMIM:615369 OMIM:619059 OMIM:617062 ORPHA:411986 OMIM:620066 ORPHA:79322 ORPHA:268261 ORPHA:501 ORPHA:725 OMIM:615744 OMIM:617113 OMIM:612736 ORPHA:382 OMIM:616973 OMIM:619503 OMIM:614018 OMIM:617810 ORPHA:208447 OMIM:245570 OMIM:602477 OMIM:617391 OMIM:309530 OMIM:616056 OMIM:619913 OMIM:300912 ORPHA:404454 ORPHA:95232 OMIM:300088 ORPHA:101039 ORPHA:79351 OMIM:610293 OMIM:612437 OMIM:617773 OMIM:607208 OMIM:604403 OMIM:604233 OMIM:616172

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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