EPM2
MCID: LFR002
MIFTS: 52

Lafora Disease (EPM2) malady

Summaries for Lafora Disease

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 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, lafora type and myoclonus. 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 brain, and related mouse phenotypes are muscle and cellular.

Wikipedia:64 Lafora disease, also called Lafora progressive myoclonic epilepsy or MELF, is a fatal autosomal... more...

Description from OMIM:47 254780

Aliases & Classifications for Lafora Disease

Sources:
8Disease Ontology, 43NIH Rare Diseases, 45Novoseek, 61UMLS, 22GTR, 47OMIM, 57SNOMED-CT, 35MeSH, 40NCIt
See all sources

Aliases & Descriptions:

lafora disease 8 43 45 61
myoclonic epilepsy of lafora 8 43
lafora's disease 8 22
lafora progressive myoclonic epilepsy 8
epilepsy progressive myoclonic 2 43
lafora body disorder 43
epm2 43
melf 43


External Ids:

Disease Ontology8 DOID:3534
OMIM47 254780
SNOMED-CT57 230425004
MeSH35 D020192
NCIt40 C84804

Related Diseases for Lafora Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Lafora Disease:



Diseases related to lafora disease

Clinical Features for Lafora Disease

Sources:
47OMIM
See all sources

Clinical features from OMIM:

254780

Drugs & Therapeutics for Lafora Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
22GTR
See all sources

Genetic tests related to Lafora Disease:

id Genetic test Affiliating Genes
1 Lafora Disease22

Anatomical Context for Lafora Disease

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Lafora Disease:

33
Skin, Liver, Brain, Cortex, Retina, Heart

Animal Models for Lafora Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Lafora Disease

Sources:
51PubMed
See all sources

Articles related to Lafora Disease:

(show top 50)    (show all 133)
idTitleAuthorsYear
1
Inhibiting glycogen synthesis prevents lafora disease in a mouse model. (23913475)
2013
2
Lafora disease fibroblasts exemplify the molecular interdependence between thioredoxin 1 and the proteasome in mammalian cells. (23850970)
2013
3
Hyperphosphorylation of glucosyl C6 carbons and altered structure of glycogen in the neurodegenerative epilepsy Lafora disease. (23663739)
2013
4
Activation of serum/glucocorticoid-induced kinase 1 (SGK1) underlies increased glycogen levels, mTOR activation, and autophagy defects in Lafora disease. (24131995)
2013
5
Neuronatin gene: Imprinted and misfolded: Studies in Lafora disease, diabetes and cancer may implicate neuronatin-aggregates as a common downstream participant in neuronal loss. (24345642)
2013
6
Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families. (22047982)
2012
7
Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease. (22361617)
2012
8
Pancytopenia associated with levetiracetam treatment in Lafora's disease. (22270796)
2012
9
Lafora disease E3-ubiquitin ligase malin is related to TRIM32 at both the phylogenetic and functional level. (21798009)
2011
10
Lafora disease: a case report, pathologic and genetic study. (21623095)
2011
11
PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease. (21552327)
2011
12
A PTG variant contributes to a milder phenotype in Lafora disease. (21738631)
2011
13
Laforin, a dual-specificity phosphatase involved in Lafora disease, is phosphorylated at Ser25 by AMP-activated protein kinase. (21728993)
2011
14
A novel exon 3 mutation in a Tunisian patient with Lafora's disease. (21371719)
2011
15
Laforin, the most common protein mutated in Lafora disease, regulates autophagy. (20453062)
2010
16
Co-chaperone CHIP stabilizes aggregate-prone malin, a ubiquitin ligase mutated in Lafora disease. (19892702)
2010
17
Laforin in autophagy: a possible link between carbohydrate and protein in Lafora disease? (20818153)
2010
18
Posterior glucose hypometabolism in Lafora disease: early and late FDG-PET assessment. (20163446)
2010
19
MR spectroscopy findings in Lafora disease. (19040628)
2009
20
Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin. (19529779)
2009
21
Lafora disease and congenital generalized lipodystrophy: a case report. (19951852)
2009
22
Lafora disease as a cause of visually exacerbated myoclonic attacks in a dog. (19949558)
2009
23
Abnormal metabolism of glycogen phosphate as a cause for Lafora disease. (18852261)
2008
24
Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin. (18311786)
2008
25
Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora. (17452581)
2007
26
Novel human pathological mutations. Gene symbol: EPM2A. Disease: Lafora progressive myoclonus epilepsy. (17879451)
2007
27
Lafora's disease presenting with progressive myoclonus epilepsy]. (18033035)
2007
28
Lafora disease, seizures and sugars. (17915579)
2007
29
MRI volumetry and proton MR spectroscopy of the brain in Lafora disease. (16650146)
2006
30
Clinical and genetic findings in 26 Italian patients with Lafora disease. (16529633)
2006
31
Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation. (16190947)
2005
32
Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population. (16021330)
2005
33
The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies. (14706656)
2004
34
A unique carbohydrate binding domain targets the Lafora disease phosphatase to glycogen. (11739371)
2002
35
Mutation screening for Japanese Lafora's disease patients: identification of novel sequence variants in the coding and upstream regulatory regions of EPM2A gene. (11735300)
2001
36
Long-term observations of two siblings with Lafora disease treated with zonisamide. (11518630)
2001
37
Lafora's disease: towards a clinical, pathologic, and molecular synthesis. (11483392)
2001
38
Lafora disease: diagnosis by skin biopsy. (10534649)
1999
39
Biopsy results in a kindred with Lafora disease. (8418793)
1993
40
Comparative study of intraneuronal polyglucosan bodies in brains from patients with Lafora disease and aged dogs. (1335204)
1992
41
Lafora disease: a progressive myoclonus epilepsy. (1466943)
1992
42
Lafora-body disease with optic atrophy, macular degeneration and cardiac failure. (2509638)
1989
43
Monoclonal antibody against polyglucosan isolated from the myocardium of a patient with Lafora disease. (2845003)
1988
44
Brainstem auditory evoked responses in Lafora disease. (3000648)
1985
45
Sweat gland duct cells in Lafora disease: diagnosis by skin biopsy. (6796905)
1981
46
Presenile dementia--a form of Lafora disease. (6245119)
1980
47
The retina in Lafora disease: light and electron microscopy. (6779655)
1980
48
Biochemical studies on tissues from a patient with Lafora disease. (170019)
1975
49
The myocardium in Lafora disease. (175630)
1975
50
Muscle in Lafora disease. (4140718)
1974

Genetic Variations for Lafora Disease

Expression for genes affiliated with Lafora Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Lafora Disease

Search GEO for disease gene expression data for Lafora Disease.

Pathways for genes affiliated with Lafora Disease

Sources:
12EMD Millipore, 54Reactome, 30KEGG
See all sources

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

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 60Tocris Bioscience, 24HMDB
See all sources

Compounds related to Lafora Disease according to GeneCards/GeneDecks:

(show all 41)
idCompoundScoreTop Affiliating Genes
14-methylumbelliferyl phosphate4510.4CDKN3, DUSP19
2tungstate4510.4ACP1, DUSP13
3cap-p4510.4DUSP19, CDKN3
4cytostatin4510.4DUSP19, CDKN3
5dinophysistoxin 14510.4CDKN3, DUSP19
6tautomycin4510.4DUSP19, CDKN3
7fostriecin4510.4DUSP19, CDKN3
8adenosine 5-o-(3-thiotriphosphate)4510.4CDKN3, DUSP19
9sodium stibogluconate45 1111.3CDKN3, ACP1
10cantharidin4510.3DUSP19, CDKN3
11starch4510.3ACP1, GBE1, EPM2A
12microcystin-lr4510.3DUSP19, CDKN3
13p-nitrophenyl phosphate4510.2ACP1, CDKN3, DUSP19
14trifluoperazine45 29 1112.2DUSP19, CDKN3, ACP1
15calmidazolium4510.2DUSP19, CDKN3
16sodium orthovanadate45 6011.2DUSP19, CDKN3, ACP1
17phenylarsine oxide4510.2DUSP19, CDKN3, ACP1
18fluoride4510.2ACP1, CDKN3, DUSP19
19calyculin a45 60 1112.1ACP1, CDKN3, DUSP19
20levodopa45 1111.1DUSP19, CDKN3, PARK2
21ganciclovir45 1111.1ACP1, CDKN3, DUSP19
22sodium fluoride4510.1DUSP19, CDKN3
23vanadate4510.1ACP1, CDKN3, DUSP19
24nmda45 2911.0PARK2, ACP1, DUSP19
25n-ethylmaleimide45 1111.0DUSP19, CDKN3, ACP1
26cl 1004510.0ACP1, CDKN3, DUSP19, DUSP13
27phosphothreonine4510.0ACP1, CDKN3, DUSP19, DUSP13
28phosphoserine45 2411.0DUSP13, DUSP19, CDKN3, ACP1
29okadaic acid45 6010.9DUSP19, CDKN3, ACP1, PARK2
30phosphotyrosine459.9DUSP13, DUSP19, CDKN3, ACP1
31cytochalasin d45 6010.8ACP1, CDKN3, DUSP19
32lactone459.7CDKN3, DUSP19
33phosphoric acid45 2410.7UBE2D1, STUB1, TRIM32, PARK2
34h2o2459.6PARK2, ACP1, CDKN3, DUSP19, DUSP13
35pyrophosphate45 2410.6PARK2, TRIM32, STUB1, UBE2D1
36glycogen45 2410.6PPP1R3C, DUSP19, CDKN3, EPM2A, GBE1, PARK2
37Adenosine monophosphate11 2410.5UBE2D1, STUB1, PRKAB2, TRIM32, PARK2
38phosphoinositide459.5DUSP19, CDKN3, ACP1, PARK2
39cysteine459.5CSTB, NFU1, DUSP13, DUSP19, CDKN3, ACP1
40serine459.2PARK2, ACP1, CLN3, CDKN3, DUSP19, DUSP13
41tyrosine458.9STUB1, DUSP13, DUSP19, CDKN3, EPM2A, ACP1

GO Terms for genes affiliated with Lafora Disease

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lafora Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet