Human Phenotype Ontology 
Grandparent Node:
expand
Seizure (HP:0001250)help
Parent Node:
expand
Generalized-onset seizure (HP:0002197)help
..Starting node
..expand
Generalized clonic seizure (HP:0011169)help
Term ID: 11169
Name: Generalized clonic seizure
Synonym: Generalised clonic seizure; Generalised clonic seizures; Generalised onset clonic seizure; Generalised-onset clonic seizure; Generalized clonic seizures; Generalized onset clonic seizure; Generalized-onset clonic seizure
Definition: Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.
Comments:
Reference: HP:0011169
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAtonic seizure (HP:0010819) help
..expandBilateral tonic-clonic seizure (HP:0002069) help
..expandGeneralized myoclonic seizure (HP:0002123) help
..expandGeneralized non-motor (absence) seizure (HP:0002121) help
..expandGeneralized tonic seizure (HP:0010818) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011169HP:0011169Generalized clonic seizure0ACSF3 CL E G H19732227288ORPHA:289504Combined malonic and methylmalonic acidemiaHP:0040283 - Occasional68
HP:0011169HP:0011169Generalized clonic seizure0ACSF3 CL E G H19732227288OMIM:614265Combined malonic and methylmalonic aciduria.68
HP:0011169HP:0011169Generalized clonic seizure0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0011169HP:0011169Generalized clonic seizure0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional118
HP:0011169HP:0011169Generalized clonic seizure0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional405
HP:0011169HP:0011169Generalized clonic seizure0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0011169HP:0011169Generalized clonic seizure0DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsyHP:0040282 - Frequent26
HP:0011169HP:0011169Generalized clonic seizure0GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040282 - Frequent134
HP:0011169HP:0011169Generalized clonic seizure0GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040282 - Frequent139
HP:0011169HP:0011169Generalized clonic seizure0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional36
HP:0011169HP:0011169Generalized clonic seizure0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional108
HP:0011169HP:0011169Generalized clonic seizure0GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndromeHP:0040283 - Occasional434
HP:0011169HP:0011169Generalized clonic seizure0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional5
HP:0011169HP:0011169Generalized clonic seizure0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional145
HP:0011169HP:0011169Generalized clonic seizure0KCNQ2 CL E G H37856296ORPHA:306Benign familial infantile epilepsyHP:0040282 - Frequent528
HP:0011169HP:0011169Generalized clonic seizure0KCNQ3 CL E G H37866297ORPHA:306Benign familial infantile epilepsyHP:0040282 - Frequent302
HP:0011169HP:0011169Generalized clonic seizure0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional
HP:0011169HP:0011169Generalized clonic seizure0PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040282 - Frequent225
HP:0011169HP:0011169Generalized clonic seizure0PCDH19 CL E G H5752614270ORPHA:101039Female restricted epilepsy with intellectual disabilityHP:0040282 - Frequent225
HP:0011169HP:0011169Generalized clonic seizure0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional2
HP:0011169HP:0011169Generalized clonic seizure0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0011169HP:0011169Generalized clonic seizure0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional244
HP:0011169HP:0011169Generalized clonic seizure0PRRT2 CL E G H11247630500ORPHA:306Benign familial infantile epilepsyHP:0040282 - Frequent94
HP:0011169HP:0011169Generalized clonic seizure0PSAP CL E G H56609498OMIM:611721Combined saposin deficiency.81
HP:0011169HP:0011169Generalized clonic seizure0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0011169HP:0011169Generalized clonic seizure0SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040282 - Frequent1053
HP:0011169HP:0011169Generalized clonic seizure0SCN1A CL E G H632310585OMIM:607208Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)1053
HP:0011169HP:0011169Generalized clonic seizure0SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040282 - Frequent126
HP:0011169HP:0011169Generalized clonic seizure0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional126
HP:0011169HP:0011169Generalized clonic seizure0SCN2A CL E G H632610588ORPHA:306Benign familial infantile epilepsyHP:0040282 - Frequent427
HP:0011169HP:0011169Generalized clonic seizure0SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040282 - Frequent427
HP:0011169HP:0011169Generalized clonic seizure0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional427
HP:0011169HP:0011169Generalized clonic seizure0SCN8A CL E G H633410596ORPHA:306Benign familial infantile epilepsyHP:0040282 - Frequent357
HP:0011169HP:0011169Generalized clonic seizure0SCN8A CL E G H633410596OMIM:614558Epileptic encephalopathy, early infantile, 13357
HP:0011169HP:0011169Generalized clonic seizure0SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040282 - Frequent318
HP:0011169HP:0011169Generalized clonic seizure0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional11
HP:0011169HP:0011169Generalized clonic seizure0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0011169HP:0011169Generalized clonic seizure0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional1


Genes (31) :ACSF3 ARX CASK CDKL5 DMXL2 DPM2 GABRA1 GABRG2 GNAO1 GRIN1 GRIN2A GRM7 KCNA1 KCNQ2 KCNQ3 NEUROD2 PCDH19 PIGP PIGQ PNKP PRRT2 PSAP SATB1 SCN1A SCN1B SCN2A SCN8A SCN9A SIK1 SLC25A22 TRIM8

Diseases (12) :ORPHA:289504 OMIM:614265 ORPHA:1934 ORPHA:329178 ORPHA:33069 ORPHA:98818 ORPHA:306 ORPHA:101039 OMIM:611721 OMIM:619229 OMIM:607208 OMIM:614558
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.