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Standards Ontologies Notations
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
Disease Ontology
DOID:3534
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
2997 GYS1 glycogen synthase 1
2998 GYS2 glycogen synthase 2
7957 EPM2A EPM2A glucan phosphatase, laforin
378884 NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
Displaying all 4 entries
Gene ID Gene Symbol Description Source
13853 Epm2a epilepsy, progressive myoclonic epilepsy, type 2 gene alpha
14936 Gys1 glycogen synthase 1, muscle
105193 Nhlrc1 NHL repeat containing 1
232493 Gys2 glycogen synthase 2
Displaying all 4 entries
Gene ID Gene Symbol Description Source
25623 Gys2 glycogen synthase 2
114005 Epm2a EPM2A glucan phosphatase, laforin
364682 Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1
690987 Gys1 glycogen synthase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
41823 Glys Glycogen synthase
Displaying all 2 entries
Gene ID Gene Symbol Description Source
373082 gys2 glycogen synthase 2
394155 gys1 glycogen synthase 1 (muscle)
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
100490155 gys1 glycogen synthase 1 Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
174924 gsy-1 Glycogen [starch] synthase
Displaying all 2 entries
Gene ID Gene Symbol Description Source
850569 GSY1 glycogen (starch) synthase GSY1
850962 GSY2 glycogen (starch) synthase GSY2
The Human Phenotype Ontology
Displaying entries 21 - 30 of 39 in total
HPO ID HPO Term
HP:0010819 Atonic seizure
HP:0001399 Hepatic failure
HP:0001251 Ataxia
HP:0002367 Visual hallucination
HP:0012444 Brain atrophy
HP:0002100 Recurrent aspiration pneumonia
HP:0001260 Dysarthria
HP:0002521 Hypsarrhythmia
HP:0000726 Dementia
HP:0002315 Headache
Displaying 1 entry
Gene ID Gene Symbol Description
7957 EPM2A EPM2A glucan phosphatase, laforin
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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024