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:
Interictal epileptiform activity (HP:0011182)

Parent Node:
EEG with generalized epileptiform discharges (HP:0011198)

..Starting node
..EEG with burst suppression (HP:0010851)

Term ID:

10851

Name:

EEG with burst suppression

Synonym:

Definition:

The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.

Comments:

Reference:

HP:0010851

Genes and Diseases:

Child Nodes:

Sister Nodes:

EEG with generalized polymorphic epileptiform discharges (HP:0011200)

EEG with generalized polyspikes (HP:0012001)

EEG with generalized sharp slow waves (HP:0011199)

EEG with generalized spikes (HP:0012000)

EEG with spike-wave complexes (HP:0010850)

Hypsarrhythmia (HP:0002521)

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:0010851	HP:0010851	EEG with burst suppression	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	19
HP:0010851	HP:0010851	EEG with burst suppression	0	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent		227
HP:0010851	HP:0010851	EEG with burst suppression	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent	227
HP:0010851	HP:0010851	EEG with burst suppression	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040283 - Occasional	41
HP:0010851	HP:0010851	EEG with burst suppression	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0010851	HP:0010851	EEG with burst suppression	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0010851	HP:0010851	EEG with burst suppression	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	166
HP:0010851	HP:0010851	EEG with burst suppression	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency		17
HP:0010851	HP:0010851	EEG with burst suppression	0	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0010851	HP:0010851	EEG with burst suppression	0	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0010851	HP:0010851	EEG with burst suppression	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal		20
HP:0010851	HP:0010851	EEG with burst suppression	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	118
HP:0010851	HP:0010851	EEG with burst suppression	0	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia		3
HP:0010851	HP:0010851	EEG with burst suppression	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	405
HP:0010851	HP:0010851	EEG with burst suppression	0	CNPY3 CL E G H	10695	11968	OMIM:617929	Epileptic encephalopathy, early infantile, 60
HP:0010851	HP:0010851	EEG with burst suppression	0	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0010851	HP:0010851	EEG with burst suppression	0	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65		1
HP:0010851	HP:0010851	EEG with burst suppression	0	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81		3
HP:0010851	HP:0010851	EEG with burst suppression	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	3
HP:0010851	HP:0010851	EEG with burst suppression	0	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5		167
HP:0010851	HP:0010851	EEG with burst suppression	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional	26
HP:0010851	HP:0010851	EEG with burst suppression	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0010851	HP:0010851	EEG with burst suppression	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0010851	HP:0010851	EEG with burst suppression	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	36
HP:0010851	HP:0010851	EEG with burst suppression	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0010851	HP:0010851	EEG with burst suppression	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	108
HP:0010851	HP:0010851	EEG with burst suppression	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	5
HP:0010851	HP:0010851	EEG with burst suppression	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	145
HP:0010851	HP:0010851	EEG with burst suppression	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0010851	HP:0010851	EEG with burst suppression	0	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy	HP:0040281 - Very frequent	528
HP:0010851	HP:0010851	EEG with burst suppression	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB		37
HP:0010851	HP:0010851	EEG with burst suppression	0	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	68
HP:0010851	HP:0010851	EEG with burst suppression	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent
HP:0010851	HP:0010851	EEG with burst suppression	0	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0010851	HP:0010851	EEG with burst suppression	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	2
HP:0010851	HP:0010851	EEG with burst suppression	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	3
HP:0010851	HP:0010851	EEG with burst suppression	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0010851	HP:0010851	EEG with burst suppression	0	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	162
HP:0010851	HP:0010851	EEG with burst suppression	0	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent		6
HP:0010851	HP:0010851	EEG with burst suppression	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent	6
HP:0010851	HP:0010851	EEG with burst suppression	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	244
HP:0010851	HP:0010851	EEG with burst suppression	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040282 - Frequent	92
HP:0010851	HP:0010851	EEG with burst suppression	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	126
HP:0010851	HP:0010851	EEG with burst suppression	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	427
HP:0010851	HP:0010851	EEG with burst suppression	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	11
HP:0010851	HP:0010851	EEG with burst suppression	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	166
HP:0010851	HP:0010851	EEG with burst suppression	0	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E		14
HP:0010851	HP:0010851	EEG with burst suppression	0	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4	.	237
HP:0010851	HP:0010851	EEG with burst suppression	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent	1
HP:0010851	HP:0010851	EEG with burst suppression	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0010851	HP:0010851	EEG with burst suppression	0	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0010851	HP:0010851	EEG with burst suppression	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		4

Genes (48) :AKT3 ALDH7A1 ALG11 ALG14 ARX ASNS ATP1A2 ATP6V0A1 BRAT1 CASK CDK5 CDKL5 CNPY3 CUL3 CYFIP2 DMXL2 DNM2 DPM2 FGF13 GAD1 GNAO1 GNB1 GRIN1 GRM7 KCNA1 KCNC2 KCNQ2 MOGS MTOR NEUROD2 NSF PIGP PIGQ PIGS PIK3CA PLPBP PNKP PNPO SCN1B SCN2A SIK1 SLC25A22 SLC25A46 STXBP1 TRIM8 UGDH VARS2 ZNF148

Diseases (33) :ORPHA:99802 OMIM:266100 ORPHA:3006 ORPHA:280071 OMIM:619036 OMIM:308350 ORPHA:1934 OMIM:615574 OMIM:619605 OMIM:619971 OMIM:614498 OMIM:616342 OMIM:617929 OMIM:619239 OMIM:618008 OMIM:618663 OMIM:615368 ORPHA:329178 OMIM:301058 OMIM:619124 OMIM:616973 OMIM:619913 ORPHA:439218 OMIM:606056 OMIM:619340 OMIM:618143 OMIM:617290 ORPHA:79096 OMIM:619303 OMIM:612164 OMIM:618792 OMIM:615917 OMIM:617260

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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