| Human Phenotype
Ontology
|
Grandparent Node:
 Abnormal nervous system physiology (HP:0012638) | Parent Node:
Seizure (HP:0001250) | ..Starting node
..Multifocal seizures (HP:0031165)
|
| Term ID: |
31165 |
| Name: |
Multifocal seizures |
| Synonym: |
Multifocal onset seizures |
| Definition: |
Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations). |
| Comments: |
|
| Reference: |
HP:0031165 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: | ..Dialeptic seizure (HP:0011146)
| ..Epileptic spasm (HP:0011097)
| ..Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
| ..Focal-onset seizure (HP:0007359)
| ..Generalized-onset seizure (HP:0002197)
| ..Status epilepticus (HP:0002133)
| ..Symptomatic seizures (HP:0011145)
| | Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0031165 | HP:0031165 | Multifocal seizures | 0 | ADPRS CL E G H | 54936 | 21304 | OMIM:618170 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | | | | | | | | HP:0031165 | HP:0031165 | Multifocal seizures | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:619606 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99 | | | | 150 | | | | HP:0031165 | HP:0031165 | Multifocal seizures | 0 | BRAT1 CL E G H | 221927 | 21701 | OMIM:614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | . | | | 20 | | | | HP:0031165 | HP:0031165 | Multifocal seizures | 0 | CARS2 CL E G H | 79587 | 25695 | ORPHA:477774 | Combined oxidative phosphorylation defect type 27 | HP:0040282 - Frequent | | | 35 | | | | HP:0031165 | HP:0031165 | Multifocal seizures | 0 | CDKL5 CL E G H | 6792 | 11411 | OMIM:300672 | Developmental and epileptic encephalopathy 2 | . | | | 405 | | | | HP:0031165 | HP:0031165 | Multifocal seizures | 0 | FRRS1L CL E G H | 23732 | 1362 | OMIM:616981 | Epileptic encephalopathy, early infantile, 37 | | | | 4 | | | | HP:0031165 | HP:0031165 | Multifocal seizures | 0 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | | | HP:0031165 | HP:0031165 | Multifocal seizures | 0 | NECAP1 CL E G H | 25977 | 24539 | OMIM:615833 | Epileptic encephalopathy, early infantile, 21 | | | | 1 | | | | HP:0031165 | HP:0031165 | Multifocal seizures | 0 | PIGQ CL E G H | 9091 | 14135 | OMIM:618548 | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4 | | | | 3 | | | | HP:0031165 | HP:0031165 | Multifocal seizures | 0 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | | | HP:0031165 | HP:0031165 | Multifocal seizures | 0 | PPP2R5D CL E G H | 5528 | 9312 | OMIM:616355 | Mental retardation, autosomal dominant 35 | | | | 10 | | | | HP:0031165 | HP:0031165 | Multifocal seizures | 0 | SLC13A5 CL E G H | 284111 | 23089 | OMIM:615905 | Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta | . | | | 73 | | | | HP:0031165 | HP:0031165 | Multifocal seizures | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | | | HP:0031165 | HP:0031165 | Multifocal seizures | 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:0031165 | HP:0031165 | Multifocal seizures | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040282 - Frequent | | | 13 | | | | HP:0031165 | HP:0031165 | Multifocal seizures | 0 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | | | HP:0031165 | HP:0031165 | Multifocal seizures | 0 | WARS2 CL E G H | 10352 | 12730 | OMIM:617710 | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | | | | 2 | | | | HP:0031165 | HP:0031165 | Multifocal seizures | 0 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | HP:0040283 - Occasional | | | 2 | | |
Genes (17) :ADPRS ATP1A3 BRAT1 CARS2 CDKL5 FRRS1L GALNT2 NECAP1 PIGQ PIGS PPP2R5D SLC13A5 SMC1A TANGO2 TBCK TFE3 WARS2
Diseases (18) :OMIM:618170 OMIM:619606 OMIM:614498 ORPHA:477774 OMIM:300672 OMIM:616981 OMIM:618885 OMIM:615833 OMIM:618548 OMIM:618143 OMIM:616355 OMIM:615905 OMIM:301044 ORPHA:480864 ORPHA:488632 OMIM:301066 OMIM:617710 ORPHA:572798 |
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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