EPM2
MCID: LFR002
MIFTS: 49

Lafora Disease (EPM2) malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Lafora Disease

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Sources:
43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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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 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 MPS VI - Maroteaux-Lamy syndrome and Glucose metabolism. The compounds starch and glycogen have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and heart, and related mouse phenotypes are no phenotypic analysis and liver/biliary system.

Wikipedia:65 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

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8Disease Ontology, 43NIH Rare Diseases, 45Novoseek, 62UMLS, 22GTR, 40NCIt, 58SNOMED-CT, 47OMIM, 35MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

lafora disease 8 43 45 62
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
NCIt40 C84804
SNOMED-CT58 230425004
OMIM47 254780
MeSH35 D020192

Related Diseases for Lafora Disease

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



Diseases related to lafora disease

Symptoms for Lafora Disease

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47OMIM
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Clinical features from OMIM:

254780

Drugs & Therapeutics for Lafora Disease

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Lafora Disease

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Lafora Disease:

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

Animal Models for Lafora Disease or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Lafora Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.6CSTB, CLN3, NHLRC1
2MP:00053708.4EPM2A, CLN3, NHLRC1, GBE1
3MP:00053698.4CSTB, EPM2A, NHLRC1, GBE1
4MP:00053867.9NHLRC1, CLN3, EPM2A, CSTB
5MP:00053847.7GBE1, NHLRC1, CLN3, EPM2A, CSTB
6MP:00036317.6GBE1, NHLRC1, CLN3, EPM2A, CSTB

Publications for Lafora Disease

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52PubMed
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Articles related to Lafora Disease:

(show top 50)    (show all 115)
idTitleAuthorsYear
1
The phosphatase activity of laforin is dispensable to rescue Epm2a-/- mice from Lafora disease. (24430976)
2014
2
Inhibiting glycogen synthesis prevents lafora disease in a mouse model. (23913475)
2013
3
Lafora disease fibroblasts exemplify the molecular interdependence between thioredoxin 1 and the proteasome in mammalian cells. (23850970)
2013
4
Progressive myoclonus epilepsies: description of a case of Lafora disease with autopsy. (22703635)
2013
5
Hyperphosphorylation of glucosyl C6 carbons and altered structure of glycogen in the neurodegenerative epilepsy Lafora disease. (23663739)
2013
6
Activation of serum/glucocorticoid-induced kinase 1 (SGK1) underlies increased glycogen levels, mTOR activation, and autophagy defects in Lafora disease. (24131995)
2013
7
Laforin prevents stress-induced polyglucosan body formation and lafora disease progression in neurons. (23546741)
2013
8
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
9
Increased laforin and laforin binding to glycogen underlie Lafora body formation in malin-deficient Lafora disease. (22669944)
2012
10
Autophagy defects in Lafora disease: cause or consequence? (22301990)
2012
11
Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families. (22047982)
2012
12
Lafora disease E3-ubiquitin ligase malin is related to TRIM32 at both the phylogenetic and functional level. (21798009)
2011
13
Lafora disease: a case report, pathologic and genetic study. (21623095)
2011
14
Lafora disease ubiquitin ligase malin promotes proteasomal degradation of neuronatin and regulates glycogen synthesis. (21742036)
2011
15
Laforin, a dual specificity phosphatase involved in Lafora disease, is present mainly as monomeric form with full phosphatase activity. (21887368)
2011
16
Neurodegeneration and functional impairments associated with glycogen synthase accumulation in a mouse model of Lafora disease. (21882344)
2011
17
Laforin, the most common protein mutated in Lafora disease, regulates autophagy. (20453062)
2010
18
Co-chaperone CHIP stabilizes aggregate-prone malin, a ubiquitin ligase mutated in Lafora disease. (19892702)
2010
19
Lafora disease: epidemiology, pathophysiology and management. (20527995)
2010
20
Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease. (19542233)
2009
21
Lafora disease: insights into neurodegeneration from plant metabolism. (19818631)
2009
22
Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease. (19322595)
2009
23
MR spectroscopy findings in Lafora disease. (19040628)
2009
24
Abnormal metabolism of glycogen phosphate as a cause for Lafora disease. (18852261)
2008
25
Lafora disease. (17047580)
2006
26
MRI volumetry and proton MR spectroscopy of the brain in Lafora disease. (16650146)
2006
27
Fixation-sensitive myoclonus in Lafora disease. (16717223)
2006
28
Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation. (16190947)
2005
29
Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population. (16021330)
2005
30
Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin. (15930137)
2005
31
Lafora disease with primary generalized epileptic myoclonus. (15929095)
2005
32
Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus. (15304597)
2004
33
The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies. (14706656)
2004
34
Bioptically demonstrated Lafora disease without EPM2A mutation: a clinical and neurophysiological study of two sisters. (14643920)
2003
35
The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain. (12915448)
2003
36
Lafora disease. A new case of confirmation of diagnosis on molecular genetic studies]. (11988905)
2002
37
Long-term observations of two siblings with Lafora disease treated with zonisamide. (11518630)
2001
38
Glucose metabolism evaluated by positron emission tomography in Lafora disease. (10618892)
1999
39
Identification of a recombination event narrowing the Lafora disease gene region. (9222970)
1997
40
Lafora disease in the cow? (8056873)
1994
41
Posterior paroxysmal discharge: an aid to early diagnosis in Lafora disease. (8230063)
1993
42
Biopsy results in a kindred with Lafora disease. (8418793)
1993
43
Early detection of skin and muscular involvement in Lafora disease. (1654400)
1991
44
Pyruvate metabolism in Lafora disease. (2498072)
1989
45
Diagnosis of Lafora disease by skin biopsy. (2456316)
1988
46
Biopsy findings (cerebral cortex, muscle, skin) in Lafora disease. (3149866)
1987
47
Lafora disease: a quantitative morphological and biochemical study of the cerebral cortex. (3032486)
1987
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

Variations for Lafora Disease

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Lafora Disease:

1
id Gene Name Type Significance SNP ID Assembly Location
1EPM2ANM_005670.3(EPM2A): c.721C> T (p.Arg241Ter)single nucleotide variantPathogenicrs104893950GRCh37Chr 6, 145948827: 145948827
2EPM2ANM_005670.3(EPM2A): c.835G> A (p.Gly279Ser)single nucleotide variantPathogenicrs137852917GRCh37Chr 6, 145948713: 145948713
3EPM2ANM_005670.3(EPM2A): c.322C> T (p.Arg108Cys)single nucleotide variantPathogenicrs137852915GRCh37Chr 6, 146007412: 146007412
4EPM2ANM_005670.3(EPM2A): c.335dupA (p.Tyr112Terfs)duplicationPathogenicGRCh37Chr 6, 146007399: 146007399
5EPM2ANM_005670.3(EPM2A): c.512G> A (p.Arg171His)single nucleotide variantPathogenicrs137852916GRCh37Chr 6, 145956587: 145956587
6EPM2ANM_005670.3(EPM2A): c.950dupT (p.Gln319Profs)duplicationPathogenicGRCh37Chr 6, 145948598: 145948598
7NM_005670.3(EPM2A): c.94T> G (p.Trp32Gly)single nucleotide variantPathogenicrs104893955GRCh37Chr 6, 146056541: 146056541

Expression for genes affiliated with Lafora Disease

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2BioGPS, 15Gene Expression Omnibus DataSets
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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

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50PathCards, 55Reactome, 38NCBI BioSystems Database
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Compounds for genes affiliated with Lafora Disease

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45Novoseek, 24HMDB
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Compounds related to Lafora Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1starch459.2EPM2A, GBE1
2glycogen45 2410.1EPM2A, NHLRC1, GBE1

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
1cytosolGO:0058298.6NFU1, EPM2A, NHLRC1, GBE1
2endoplasmic reticulumGO:0057838.5EPM2A, CLN3, NHLRC1

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

idNameGO IDScoreTop Affiliating Genes
1glycogen metabolic processGO:0059779.2EPM2A, GBE1
2glycogen biosynthetic processGO:0059789.1EPM2A, NHLRC1, GBE1
3carbohydrate metabolic processGO:0059759.1EPM2A, NHLRC1, GBE1
4glucose metabolic processGO:0060069.0GBE1, NHLRC1, EPM2A

Products for genes affiliated with Lafora Disease

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  • Antibodies
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  • Antibodies

Sources for Lafora Disease

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet