EPM2
MCID: LFR002
MIFTS: 53

Lafora Disease (EPM2) malady

Summaries for Lafora Disease

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Lafora disease is an inherited, severe form of progressive myoclonus epilepsy. the condition most commonly begins with epileptic seizures in adolescence. other signs and symptoms include difficulty walking, muscle spasms (myoclonus) and dementia. affected individuals experience rapid cognitive deterioration and progressive increase in intensity of seizures and myoclonus. the condition is often fatal within 4 to 10 years of onset. most cases are caused by mutations in either the emp2a or nhlrc1 (also called emp2b) gene and are inherited in an autosomal recessive manner. treatment focuses on alleviating symptoms and typically includes antiepileptic and antimyoclonic drugs, and psychological support. last updated: 6/10/2013

MalaCards: Lafora Disease, also known as myoclonic epilepsy of lafora, is related to progressive myoclonus epilepsy and progressive myoclonus epilepsy, lafora type. An important gene associated with Lafora Disease is EPM2A (epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)), and among its related pathways are Proteolysis Putative ubiquitin pathway and Antigen processing: Ubiquitination & Proteasome degradation. The compounds 4-methylumbelliferyl phosphate and tungstate have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and heart, and related mouse phenotypes are muscle and cellular.

Wikipedia:63 Lafora disease, also called Lafora progressive myoclonic epilepsy or MELF, is a fatal autosomal... more...

Description from OMIM:46 254780

Aliases & Classifications for Lafora Disease

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8Disease Ontology, 42NIH Rare Diseases, 44Novoseek, 60UMLS, 22GTR, 46OMIM, 56SNOMED-CT, 34MeSH, 39NCIt
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Aliases & Descriptions:

lafora disease 8 42 44 60
myoclonic epilepsy of lafora 8 42
lafora's disease 8 22
lafora progressive myoclonic epilepsy 8
epilepsy progressive myoclonic 2 42
lafora body disorder 42
epm2 42
melf 42


External Ids:

Disease Ontology8 DOID:3534
OMIM46 254780
SNOMED-CT56 230425004
MeSH34 D020192
NCIt39 C84804

Related Diseases for Lafora Disease

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Lafora Disease:



Diseases related to lafora disease

Clinical Features for Lafora Disease

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46OMIM
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Clinical features from OMIM:

254780

Drugs & Therapeutics for Lafora Disease

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Lafora Disease

Drug clinical trials:

Search ClinicalTrials for Lafora Disease

Search NIH Clinical Center for Lafora Disease

Search CenterWatch for Lafora Disease

Genetic Tests for Lafora Disease

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22GTR
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Genetic tests related to Lafora Disease:

id Genetic test Affiliating Genes
1 Lafora Disease22

Anatomical Context for Lafora Disease

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32MalaCards
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MalaCards organs/tissues related to Lafora Disease:

32
Skin, Liver, Heart, Brain, Cortex, Retina

Animal Models for Lafora Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Lafora Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.0NHLRC1, CSTB, PPP1R3C, PRKAB2, TRIM32, EPM2A
2MP:00053848.7STUB1, PRDM8, EPM2A, GBE1, CLN3, ACP1
3MP:00053868.6CSTB, STUB1, PRKAB2, PRDM8, TRIM32, EPM2A
4MP:00036318.5CSTB, STUB1, PRDM8, TRIM32, EPM2A, GBE1

Publications for Lafora Disease

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50PubMed
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Articles related to Lafora Disease:

(show top 50)    (show all 122)
idTitleAuthorsYear
1
PTG depletion rescues malin-deficient Lafora disease in mouse. (24419970)
2014
2
Lafora disease fibroblasts exemplify the molecular interdependence between thioredoxin 1 and the proteasome in mammalian cells. (23850970)
2013
3
A bioassay for Lafora disease and laforin glucan phosphatase activity. (24012855)
2013
4
Neuronatin-mediated aberrant calcium signaling and endoplasmic reticulum stress underlie neuropathology in Lafora disease. (23408434)
2013
5
Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families. (22047982)
2012
6
Lafora progressive myoclonus epilepsy: glycogen storage disease vs neurodegenerative disease. (22622859)
2012
7
Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease. (22361617)
2012
8
Presentation of an unusual patient with Lafora disease. (22425593)
2012
9
Dysfunctions in endosomal-lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora disease. (21965301)
2012
10
Lafora disease E3-ubiquitin ligase malin is related to TRIM32 at both the phylogenetic and functional level. (21798009)
2011
11
Lafora disease: a case report, pathologic and genetic study. (21623095)
2011
12
Lafora disease ubiquitin ligase malin promotes proteasomal degradation of neuronatin and regulates glycogen synthesis. (21742036)
2011
13
Laforin, a dual specificity phosphatase involved in Lafora disease, is present mainly as monomeric form with full phosphatase activity. (21887368)
2011
14
Neurodegeneration and functional impairments associated with glycogen synthase accumulation in a mouse model of Lafora disease. (21882344)
2011
15
A PTG variant contributes to a milder phenotype in Lafora disease. (21738631)
2011
16
Laforin, a dual specificity phosphatase involved in Lafora disease, regulates insulin response and whole-body energy balance in mice. (21493628)
2011
17
Rapidly progressive phenotype of Lafora disease associated with a novel NHLRC1 mutation. (21555062)
2011
18
Laforin, the most common protein mutated in Lafora disease, regulates autophagy. (20453062)
2010
19
Co-chaperone CHIP stabilizes aggregate-prone malin, a ubiquitin ligase mutated in Lafora disease. (19892702)
2010
20
Laforin in autophagy: a possible link between carbohydrate and protein in Lafora disease? (20818153)
2010
21
Sequestration of chaperones and proteasome into Lafora bodies and proteasomal dysfunction induced by Lafora disease-associated mutations of malin. (20858601)
2010
22
Impaired autophagy in Lafora disease. (20818165)
2010
23
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease. (20738377)
2010
24
MR spectroscopy findings in Lafora disease. (19040628)
2009
25
Lafora disease: spectroscopy study correlated with neuropsychological findings. (18063398)
2008
26
Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora. (17452581)
2007
27
Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment. (17337485)
2007
28
MRI volumetry and proton MR spectroscopy of the brain in Lafora disease. (16650146)
2006
29
Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation. (16190947)
2005
30
Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population. (16021330)
2005
31
Transcriptional profiling of a mouse model for Lafora disease reveals dysregulation of genes involved in the expression and modification of proteins. (16084644)
2005
32
Lafora disease due to EPM2B mutations: a clinical and genetic study. (15781812)
2005
33
Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. (14663053)
2003
34
Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation. (14532330)
2003
35
Long-term observations of two siblings with Lafora disease treated with zonisamide. (11518630)
2001
36
Identification of new and common mutations in the EPM2A gene in Lafora disease. (10668720)
2000
37
Lafora disease is not linked to the Unverricht-Lundborg locus. (7485240)
1995
38
Lafora disease in the cow? (8056873)
1994
39
Biopsy results in a kindred with Lafora disease. (8418793)
1993
40
A case of Lafora disease diagnosed by skin biopsy. (1434196)
1992
41
Biopsy findings (cerebral cortex, muscle, skin) in Lafora disease. (3149866)
1987
42
Lafora disease diagnosed by liver biopsy. (3939309)
1985
43
Lafora disease diagnosed by skin biopsy. (3939310)
1985
44
Occipital seizures in Lafora disease: a further case documented by EEG. (3930106)
1985
45
Lafora disease: liver histopathology in presymptomatic children. (6311076)
1983
46
Visual ictal phenomena in a case of Lafora disease proven by skin biopsy. (6403344)
1983
47
Ultrastructural findings in Lafora disease. (6791573)
1981
48
Presenile dementia--a form of Lafora disease. (6245119)
1980
49
Biochemical studies on tissues from a patient with Lafora disease. (170019)
1975
50
Muscle in Lafora disease. (4140718)
1974

Genetic Variations for Lafora Disease

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Expression for genes affiliated with Lafora Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Lafora Disease

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Pathways for genes affiliated with Lafora Disease

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12EMD Millipore, 53Reactome, 29KEGG
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Pathways related to Lafora Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6PARK2, STUB1, UBE2D1
2
Hide members
9.3NHLRC1, PARK2, TRIM32, STUB1, UBE2D1

Compounds for genes affiliated with Lafora Disease

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44Novoseek, 11DrugBank, 28IUPHAR, 59Tocris Bioscience, 24HMDB
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Compounds related to Lafora Disease according to GeneCards/GeneDecks:

(show all 41)
idCompoundScoreTop Affiliating Genes
14-methylumbelliferyl phosphate4410.4CDKN3, DUSP19
2tungstate4410.4ACP1, DUSP13
3cap-p4410.4DUSP19, CDKN3
4cytostatin4410.4DUSP19, CDKN3
5dinophysistoxin 14410.4CDKN3, DUSP19
6tautomycin4410.4DUSP19, CDKN3
7fostriecin4410.4DUSP19, CDKN3
8adenosine 5-o-(3-thiotriphosphate)4410.4CDKN3, DUSP19
9sodium stibogluconate44 1111.3CDKN3, ACP1
10cantharidin4410.3DUSP19, CDKN3
11starch4410.3ACP1, GBE1, EPM2A
12microcystin-lr4410.3DUSP19, CDKN3
13p-nitrophenyl phosphate4410.2ACP1, CDKN3, DUSP19
14trifluoperazine44 28 1112.2DUSP19, CDKN3, ACP1
15calmidazolium4410.2DUSP19, CDKN3
16sodium orthovanadate44 5911.2DUSP19, CDKN3, ACP1
17phenylarsine oxide4410.2DUSP19, CDKN3, ACP1
18fluoride4410.2ACP1, CDKN3, DUSP19
19calyculin a44 59 1112.1ACP1, CDKN3, DUSP19
20levodopa44 1111.1DUSP19, CDKN3, PARK2
21ganciclovir44 1111.1ACP1, CDKN3, DUSP19
22sodium fluoride4410.1DUSP19, CDKN3
23vanadate4410.1ACP1, CDKN3, DUSP19
24nmda44 2811.0PARK2, ACP1, DUSP19
25n-ethylmaleimide44 1111.0DUSP19, CDKN3, ACP1
26cl 1004410.0ACP1, CDKN3, DUSP19, DUSP13
27phosphothreonine4410.0ACP1, CDKN3, DUSP19, DUSP13
28phosphoserine44 2411.0DUSP13, DUSP19, CDKN3, ACP1
29okadaic acid44 5910.9DUSP19, CDKN3, ACP1, PARK2
30phosphotyrosine449.9DUSP13, DUSP19, CDKN3, ACP1
31cytochalasin d44 5910.8ACP1, CDKN3, DUSP19
32lactone449.7CDKN3, DUSP19
33phosphoric acid44 2410.7UBE2D1, STUB1, TRIM32, PARK2
34h2o2449.6PARK2, ACP1, CDKN3, DUSP19, DUSP13
35pyrophosphate44 2410.6PARK2, TRIM32, STUB1, UBE2D1
36glycogen44 2410.6PPP1R3C, DUSP19, CDKN3, EPM2A, GBE1, PARK2
37Adenosine monophosphate11 2410.5UBE2D1, STUB1, PRKAB2, TRIM32, PARK2
38phosphoinositide449.5DUSP19, CDKN3, ACP1, PARK2
39cysteine449.5CSTB, NFU1, DUSP13, DUSP19, CDKN3, ACP1
40serine449.2PARK2, ACP1, CLN3, CDKN3, DUSP19, DUSP13
41tyrosine448.9STUB1, DUSP13, DUSP19, CDKN3, EPM2A, ACP1

GO Terms for genes affiliated with Lafora Disease

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16Gene Ontology
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Cellular components related to Lafora Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulumGO:0057839.6NHLRC1, PARK2, CLN3, EPM2AIP1, EPM2A
2cytosolGO:0058298.1TUBG2, UBE2D1, STUB1, PRKAB2, NFU1, TRIM32
3cytoplasmGO:0057377.8PARK2, NNAT, UBE2D1, CSTB, STUB1, NFU1

Biological processes related to Lafora Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycogen biosynthetic processGO:00597810.1GBE1, PPP1R3C
2protein dephosphorylationGO:0064709.6EPM2A, DUSP19, DUSP13
3positive regulation of protein ubiquitinationGO:0313989.6UBE2D1, STUB1, NHLRC1
4protein polyubiquitinationGO:0002099.3NHLRC1, PARK2, TRIM32, STUB1, UBE2D1

Molecular functions related to Lafora Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine/serine/threonine phosphatase activityGO:0081389.8EPM2A, CDKN3, DUSP13
2protein tyrosine phosphatase activityGO:0047259.7EPM2A, CDKN3, DUSP19, DUSP13
3protein serine/threonine phosphatase activityGO:0047229.6PPP1R3C, CDKN3, EPM2A
4ubiquitin-protein ligase activityGO:0048429.3UBE2D1, STUB1, TRIM32, PARK2, NHLRC1
5protein bindingGO:0055157.9PPP1R3C, STUB1, PRKAB2, NFU1, TRIM32, CDKN3

Products for genes affiliated with Lafora Disease

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Sources for Lafora Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet