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Lafora disease
Summary
- Synonym
-
- Lafora Progressive Myoclonic Epilepsy
- Lafora's disease
- MYOCLONIC EPILEPSY OF LAFORA
- Definition
- A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3.
- Super Class
- autosomal recessive disease progressive myoclonus epilepsy
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 1116 | CHI3L1 | chitinase 3 like 1 | |
| 1203 | CLN5 | CLN5 intracellular trafficking protein | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 2752 | GLUL | glutamate-ammonia ligase | |
| 2992 | GYG1 | glycogenin 1 | |
| 2997 | GYS1 | glycogen synthase 1 | |
| 2998 | GYS2 | glycogen synthase 2 | |
| 5211 | PFKL | phosphofructokinase, liver type | |
| 5728 | PTEN | phosphatase and tensin homolog |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007359 | Focal-onset seizure |
| HP:0001312 | Giant somatosensory evoked potentials |
| HP:0002186 | Apraxia |
| HP:0000572 | Visual loss |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000709 | Psychosis |
| HP:0003678 | Rapidly progressive |
| HP:0000992 | Cutaneous photosensitivity |
| HP:0002344 | Progressive neurologic deterioration |
