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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

External Links

Disease Ontology

DOID:3534

Mondo Disease Ontology

MeSH

D020192

UMLS

C0751783

NCI Thesaurus

C84804

OMIM

254780

GARD

8214

MGI genotype (from TogoID)

Related Genes

Displaying entries **11 - 13** of 13 in total

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Gene ID	Gene Symbol	Description	Source
7957	EPM2A	EPM2A glucan phosphatase, laforin	DisGeNET DisGeNET Alliance of Genome Resources
79660	PPP1R3B	protein phosphatase 1 regulatory subunit 3B	DisGeNET
378884	NHLRC1	NHL repeat containing E3 ubiquitin protein ligase 1	Alliance of Genome Resources

Displaying **all 4** entries
Gene ID	Gene Symbol	Description	Source
13853	Epm2a	epilepsy, progressive myoclonic epilepsy, type 2 gene alpha	Alliance of Genome Resources
14936	Gys1	glycogen synthase 1, muscle	Alliance of Genome Resources
105193	Nhlrc1	NHL repeat containing 1	Alliance of Genome Resources
232493	Gys2	glycogen synthase 2	Alliance of Genome Resources

Displaying **all 4** entries
Gene ID	Gene Symbol	Description	Source
25623	Gys2	glycogen synthase 2	Alliance of Genome Resources
114005	Epm2a	EPM2A glucan phosphatase, laforin	Alliance of Genome Resources
364682	Nhlrc1	NHL repeat containing E3 ubiquitin protein ligase 1	Alliance of Genome Resources
690987	Gys1	glycogen synthase 1	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
41823	Glys	Glycogen synthase	Alliance of Genome Resources

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source
373082	gys2	glycogen synthase 2	Alliance of Genome Resources
394155	gys1	glycogen synthase 1 (muscle)	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source	Organism
100490155	gys1	glycogen synthase 1	Alliance of Genome Resources	Xenopus tropicalis (tropical clawed frog)

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
174924	gsy-1	Glycogen [starch] synthase	Alliance of Genome Resources

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source
850569	GSY1	glycogen (starch) synthase GSY1	Alliance of Genome Resources
850962	GSY2	glycogen (starch) synthase GSY2	Alliance of Genome Resources

Related Glycoprotein

Displaying **all 8** entries
UniProt ID	Protein Name	Source
O75503	Bis(monoacylglycero)phosphate synthase CLN5	DisGeNET
P04062	Lysosomal acid glucosylceramidase	DisGeNET
P15104	Glutamine synthetase	DisGeNET
P17858	ATP-dependent 6-phosphofructokinase, liver type	DisGeNET
P22303	Acetylcholinesterase	DisGeNET
P36222	Chitinase-3-like protein 1	DisGeNET
P46976	Glycogenin-1	DisGeNET
P60484	Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN	DisGeNET

The Human Phenotype Ontology

Displaying entries **11 - 20** of 39 in total

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HPO ID	HPO Term
HP:0007334	Bilateral tonic-clonic seizure with focal onset
HP:0001289	Confusion
HP:0011165	Focal sensory seizure with visual features
HP:0002069	Bilateral tonic-clonic seizure
HP:0001257	Spasticity
HP:0002384	Focal impaired awareness seizure
HP:0000712	Emotional lability
HP:0002123	Generalized myoclonic seizure
HP:0007270	Atypical absence seizure
HP:0001288	Gait disturbance