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blepharospasm
Summary
- Definition
- A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks.
- Super Class
- focal dystonia
External Links
- Disease Ontology
- DOID:529
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2731 | GLDC | glycine decarboxylase | |
| 3155 | HMGCL | 3-hydroxy-3-methylglutaryl-CoA lyase | |
| 3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 4594 | MMUT | methylmalonyl-CoA mutase | |
| 4668 | NAGA | alpha-N-acetylgalactosaminidase | |
| 4758 | NEU1 | neuraminidase 1 | |
| 5160 | PDHA1 | pyruvate dehydrogenase E1 subunit alpha 1 | |
| 5277 | PIGA | phosphatidylinositol glycan anchor biosynthesis class A | |
| 5286 | PIK3C2A | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96MW5 | Conserved oligomeric Golgi complex subunit 8 | |
| Q99519 | Sialidase-1 | |
| Q9NPH2 | Inositol-3-phosphate synthase 1 | |
| Q9NQ66 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 | |
| Q9UNP4 | Lactosylceramide alpha-2,3-sialyltransferase |
