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

Parent Node:
obsolete Absence seizures with special features (HP:0011148)

..Starting node
..Myoclonic absence seizure (HP:0011150)

Term ID:

11150

Name:

Myoclonic absence seizure

Synonym:

Myoclonic absence; Myoclonic absences

Definition:

Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017.

Comments:

Reference:

HP:0011150

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absence seizure with eyelid myoclonia (HP:0011149)

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:0011150	HP:0011150	Myoclonic absence seizure	0	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	75
HP:0011150	HP:0011150	Myoclonic absence seizure	0	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities		47
HP:0011150	HP:0011150	Myoclonic absence seizure	0	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional	4
HP:0011150	HP:0011150	Myoclonic absence seizure	0	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	134
HP:0011150	HP:0011150	Myoclonic absence seizure	0	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	57
HP:0011150	HP:0011150	Myoclonic absence seizure	0	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	139
HP:0011150	HP:0011150	Myoclonic absence seizure	0	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040283 - Occasional	434
HP:0011150	HP:0011150	Myoclonic absence seizure	0	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional
HP:0011150	HP:0011150	Myoclonic absence seizure	0	KCNMA1 CL E G H	3778	6284	OMIM:618596	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16; EIG16		114
HP:0011150	HP:0011150	Myoclonic absence seizure	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B		1053
HP:0011150	HP:0011150	Myoclonic absence seizure	0	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0011150	HP:0011150	Myoclonic absence seizure	0	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	255
HP:0011150	HP:0011150	Myoclonic absence seizure	0	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5		108
HP:0011150	HP:0011150	Myoclonic absence seizure	0	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040283 - Occasional	108

Genes (13) :CACNA1H DHDDS FRRS1L GABRA1 GABRB3 GABRG2 GRIN2A JRK KCNMA1 SCN1A SETD1B SLC2A1 SYNGAP1

Diseases (8) :ORPHA:64280 OMIM:617836 ORPHA:725 OMIM:618596 OMIM:619317 OMIM:619000 OMIM:612621 ORPHA:544254

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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