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West syndrome
Summary
- Definition
- An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability.
- Super Class
- infancy electroclinical syndrome
External Links
- Disease Ontology
- DOID:0050562
- Mondo Disease Ontology
- MeSH
- NCI Thesaurus
- ORDO
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 18 | ABAT | 4-aminobutyrate aminotransferase | |
| 781 | CACNA2D1 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | |
| 3295 | HSD17B4 | hydroxysteroid 17-beta dehydrogenase 4 | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 5160 | PDHA1 | pyruvate dehydrogenase E1 subunit alpha 1 | |
| 5277 | PIGA | phosphatidylinositol glycan anchor biosynthesis class A | |
| 5373 | PMM2 | phosphomannomutase 2 | |
| 6487 | ST3GAL3 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | |
| 7355 | SLC35A2 | solute carrier family 35 member A2 | |
| 9091 | PIGQ | phosphatidylinositol glycan anchor biosynthesis class Q |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NP73 | UDP-N-acetylglucosamine transferase subunit ALG13 | |
| Q9NQ66 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 |
