Summaries for Lafora Disease

Sources:
17Genetics Home Reference, 30NIH Rare Diseases, 44Wikipedia, 15GeneReviews, 22MalaCards
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NIH Rare Diseases: Lafora disease is an inherited progressive myoclonus epilepsy which most commonly starts as epileptic seizures in adolescence. Most cases of Lafora disease are caused by mutations in one of two known genes: EMP2A and EMP2B. Both genes are located on chromosome 6 and are inherited in an autosomal recessive manner. A few cases of Lafora disease are caused by an as yet unidentified gene(s). Lafora disease causes seizures, muscle spasms, difficulty walking, dementia, and eventually death. There is currently no therapy that has proven effective against disease progression. Therapy is primarily palliative and aimed at reducing seizures. 30

MalaCards: Lafora Disease, also known as progressive myoclonus epilepsy, lafora type, is related to seizures and epilepsy syndrome. An important gene associated with Lafora Disease is EPM2A (epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)), and among its related pathways are Ubiquitin mediated proteolysis and Regulation of degradation of wt-CFTR. The drugs primidone and anti-epileptic agent [epc] and the compounds tungstate and 4-methylumbelliferyl phosphate have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and liver, and related mouse phenotypes are liver/biliary system and muscle.

Genetics Home Reference: Lafora progressive myoclonus epilepsy is a brain disorder characterized by recurrent seizures (epilepsy) and a decline in intellectual function. The signs and symptoms of the disorder usually appear in late childhood or adolescence and worsen with time.17

Wikipedia: Lafora disease, also called Lafora progressive myoclonic epilepsy or MELF, is a fatal autosomal...44 more...

GeneReviews summary for lafora

Aliases & Descriptions for Lafora Disease

Sources:
6Disease Ontology, 15GeneReviews, 30NIH Rare Diseases, 17Genetics Home Reference, 8DISEASES, 32Novoseek , 43UMLS, 16GeneTests, 24MeSH, 33OMIM, 27NCIt, 40SNOMED-CT
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Aliases & Descriptions:

lafora disease 6 15 30 17 8 32 43
progressive myoclonus epilepsy, lafora type 15 16 17
myoclonic epilepsy of lafora 6 30 17
lafora progressive myoclonic epilepsy 6 16
lafora body disorder 30 16
lafora's disease 6 16
epilepsy, progressive myoclonic, lafora 17
progressive myoclonic epilepsy type 2 17
lafora progressive myoclonus epilepsy 17
myoclonic epilepsies, progressive 43
epilepsy progressive myoclonic 2 30
lafora disease (disorder) 6
epilepsies, myoclonic 43
lafora body disease 15
epilepsy 43
melf 30
epm2 30

External Ids:

SNOMED-CT40 230425004

Related Diseases for Lafora Disease

Sources:
13GeneCards, 14GeneDecks
See all sources

Diseases related to lafora disease by text searches and GeneDecks gene sharing:

(show top 50)    (show all 423)
idRelated DiseaseScoreTop Affiliating Genes
1seizures33.1EPM2A, NHLRC1, CSTB, DUSP19, HSPA4, PARK2
2epilepsy syndrome32.4EPM2A, NHLRC1, CSTB, HSPA4, CDKN3
3merrf syndrome31.2CSTB, EPM2A
4early myoclonic encephalopathy29.4EPM2A, CSTB
5ataxia27.6HSPA4, UBC, NHLRC1, CDKN3, HSPA5, PRKAB1
6cerebritis26.9PARK2, DUSP19, UBC, CDKN3, HSPA5, CLN3
7dementia26.5CDKN3, CLN3, PARK2, HSPA4, CSTB, NHLRC1
8neurodegenerative disease26.4STUB1, CSTB, CDKN3, DUSP19, EPM2A, NHLRC1
9limb-girdle muscular dystrophy26.2UBC, TRIM32, PARK2
10gaucher's disease25.8UBC, GBE1, PARK2, HSPA4
11progressive myoclonus epilepsy25.8DUSP19, CLN3, PARK2, UBC, CDKN3, ACP1
12myoclonus25.8EPM2A, PARK2, UBC, CDKN3, GBE1, EPM2AIP1
13myoclonus epilepsy25.8GBE1, CLN3, PARK2, UBC, CDKN3, DUSP13
14neuronitis25.7NNAT, UBC, STUB1, PRKAB1, CSTB, NHLRC1
15neuropathy24.9PARK2, GBE1, EPM2A, NHLRC1, CSTB, PRKAB1
16obesity23.4DUSP19, TRIM32, PARK2, CDKN3, ACP1, GBE1
17neurodegeneration23.3STUB1, ACP1, HSPA4, CDKN3, UBC, PARK2
18parkinson's disease22.2PARK2, GBE1, CDKN3, HSPA4, STUB1, HSPA5
19ischemia21.8HSPA4, ACP1, PARK2, UBC, PRKAB1, CDKN3
20glioblastoma21.6HSPA5, CDKN3, UBC, DUSP19, CSTB, PRKAB1
21breast cancer21.1HSPA4, STUB1, PRKAB1, EPM2AIP1, HSPA5, UBC
22bubonic plague13.4CDKN3, ACP1
23ruvalcaba syndrome13.3CDKN3, DUSP13
24cowden disease13.2DUSP19, DUSP13, CDKN3
25limb-girdle muscular dystrophy type 2h13.2TRIM32, PARK2
26tauopathy13.0STUB1, CDKN3, PARK2
27bannayan-riley-ruvalcaba syndrome12.8CDKN3, DUSP13
28brain ischemia12.7ACP1, CDKN3, HSPA4, DUSP19
29polyposis12.2ACP1, UBC, CDKN3, DUSP13, DUSP19
30japanese encephalitis12.2HSPA4, ACP1, HSPA5
31ptosis12.1HSPA4, HSPA5, CDKN3, ACP1
32immunodeficiency11.8HSPA5, CDKN3, ACP1, PARK2, HSPA4
33retinoblastoma11.8ACP1, PARK2, PRKAB1, DUSP19, CDKN3, HSPA4
34hyperglycemia11.7PARK2, CDKN3, HSPA5, ACP1, PRKAB1
35hypertrophy of breast11.5ACP1, DUSP19, HSPA5, HSPA4, PRKAB1
36prion disease11.4CDKN3, PARK2, DUSP19, CSTB, NHLRC1, EPM2A
37colon carcinoma11.3HSPA4, DUSP13, HSPA5, CDKN3, ACP1, DUSP19
38temporal lobe epilepsy11.2
39ovarian carcinoma11.1CDKN3, PARK2, UBC, HSPA4, PRKAB1, CSTB
40thyroid carcinoma11.1ACP1, UBC, HSPA5, HSPA4, CDKN3
41myopathy11.1CSTB, NHLRC1, EPM2A, PARK2, CDKN3, ACP1
42amyotrophic lateral sclerosis11.0HSPA4, DUSP19, STUB1, HSPA5, UBC, PARK2
43lateral sclerosis11.0HSPA5, HSPA4, DUSP19, STUB1, UBC, PARK2
44cystic fibrosis10.6CDKN3, HSPA5, PARK2, UBC, STUB1, HSPA4
45neuroblastoma10.5ACP1, NNAT, HSPA4, HSPA5, CDKN3, UBC
46generalized epilepsy10.2
47retinitis10.2HSPA5, CDKN3, UBC, CLN3, HSPA4, TRIM32
48myeloid leukemia10.1STUB1, PARK2, ACP1, UBC, HSPA4, HSPA5
49fibrosis10.1ACP1, DUSP19, HSPA4, HSPA5, CDKN3, UBC
50hepatocellular carcinoma9.9PRKAB2, PARK2, HSPA4, ACP1, PRKAB1, CSTB

Graphical network of the top 20 diseases related to lafora disease:



Graphical network of diseases related to lafora disease

Clinical Features for Lafora Disease

Drugs & Therapeutics for Lafora Disease

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-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

Inferred drug relations via UMLS/NDF-RT:

43 28 anti-epileptic agent [epc], clonazepam, primidone

Genetic Tests for Lafora Disease

Anatomical Context for Lafora Disease

Sources:
22MalaCards
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MalaCards organs/tissues related to lafora disease:

22
Brain, Heart, Liver, Skin, B cells

Phenotypes for genes affiliated with Lafora Disease

Sources:
25MGI
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MGI Mouse Phenotypes related to lafora disease:

25
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1liver/biliary system phenotypeMP:00053708.1GBE1, EPM2A, NHLRC1, PRKAB2, PRKAB1, UBC
2muscle phenotypeMP:00053698.1PARK2, GBE1, EPM2A, NHLRC1, CSTB, PRKAB2
3nervous system phenotypeMP:00036317.5EPM2A, NHLRC1, CSTB, PRKAB1, STUB1, TRIM32
4behavior/neurological phenotypeMP:00053867.3EPM2A, NHLRC1, CSTB, PRKAB2, PRKAB1, STUB1
5homeostasis/metabolism phenotypeMP:00053766.4GBE1, EPM2A, NHLRC1, PRKAB2, PRKAB1, STUB1
6cellular phenotypeMP:00053846.2PRKAB1, CSTB, NHLRC1, EPM2A, GBE1, STUB1

Publications for genes affiliated with Lafora Disease

Sources:
35PubMed
See all sources

Articles related to lafora disease:

(show all 39)
idTitleAuthorsYearAffiliating Genes
1Lafora disease E3-ubiquitin ligase malin is related t o TRIM32 at both the phylogenetic and functional level. (21798009)RomA!-Mateo C.... Sanz P.2011TRIM32, NHLRC1
2Lafora disease ubiquitin ligase malin promotes protea somal degradation of neuronatin and regulates glycogen synthesis. (21742036)Sharma J.... Jana N.R.2011UBC, NHLRC1, NNAT
3The laforin-malin complex, involved in Lafora disease , promotes the incorporation of K63-linked ubiquitin chains into AMP-activated protein kinase beta subunits. (20534808)Moreno D.... Sanz P.2010PRKAB2, PRKAB1, EPM2A
4Novel mutations in EPM2A and NHLRC1 widen the spectru m of Lafora disease. (20738377)Lesca G.... Genton P.2010EPM2A, NHLRC1
5Co-chaperone CHIP stabilizes aggregate-prone malin, a ubiquitin ligase mutated in Lafora disease. (19892702)Rao S.N.... Jana N.R.2010STUB1, HSPA4, EPM2A
6MR spectroscopy findings in Lafora disease. (19040628)Altindag E.... Sirvanci M.2009NHLRC1
7Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin. (19529779)Vernia S.... Sanz P.2009EPM2A, NHLRC1
8Lafora disease and congenital generalized lipodystrop hy: a case report. (19951852)Tseng C.F.... Wu Y.H.2009NHLRC1
9Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease. (19322595)TraorAc M.... Fischbeck K.H.2009EPM2A, NHLRC1
10Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin. (18311786)Singh S.... Ganesh S.2008EPM2A, NHLRC1
11Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment. (17337485)Mittal S.... Ganesh S.2007UBE2D1, HSPA5, UBC
12Lafora's disease presenting with progressive myoclonus epilepsy (18033035)Bejot Y.... Giroud M.2007EPM2A, NHLRC1
13Founder effect with variable age at onset in Arab families with Lafora disease and EPM2A mutation. (17509003)Gomez-Abad C.... Berkovic S.F.2007EPM2A
14Lafora's disease (EPM2) (17304172)Genton P.2007EPM2A, NHLRC1
15Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. (17389303)Lohi H.... Minassian B.A.2007NHLRC1
16Lafora disease. (17047580)Madhavan D.... Kuzniecky R.I.2006EPM2A, NHLRC1
17Mechanisms of unexpected and/or sudden death in Lafora disease. (16326059)Wick R.... Byard R.W.2006EPM2A
18Clinical and genetic findings in 26 Italian patients with Lafora disease. (16529633)Franceschetti S.... Zara F.2006NHLRC1
19MRI volumetry and proton MR spectroscopy of the brain in Lafora disease. (16650146)Villanueva V.... Serratosa J.M.2006EPM2A
20Molecular characterization of laforin, a dual-specificity protein phosphatase implicated in Lafora disease. (17010495)Girard J.M.... Lederer F.2006ACP1, EPM2A, CDKN3
21Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation. (16190947)Baykan B.... Zara F.2005NHLRC1
22Transcriptional profiling of a mouse model for Lafora disease reveals dysregulation of genes involved in the expression and modification of proteins. (16084644)Ganesh S.... Yamakawa K.2005NHLRC1
23Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population. (16021330)Singh S.... Ganesh S.2005EPM2A, NHLRC1
24Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin. (15930137)Gentry M.S.... Dixon J.E.2005PARK2, UBC, EPM2A
25Lafora disease due to EPM2B mutations: a clinical and genetic study. (15781812)Gomez-Abad C.... Serratosa J.M.2005NHLRC1
26The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies. (14706656)Ganesh S.... Yamakawa K.2004EPM2A
27Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus. (15304597)Chan E.M.... Minassian B.A.2004NHLRC1
28Bioptically demonstrated Lafora disease without EPM2A mutation: a clinical and neurophysiological study of two sisters. (14643920)Boccella P.... Striano S.2003ACP1, EPM2A
29The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain. (12915448)Ganesh S.... Yamakawa K.2003EPM2A, CDKN3, NFU1
30Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. (14663053)Andrade D.M.... Minassian B.A.2003EPM2A
31Unusual presentation of Lafora's disease. (12940657)Al Otaibi S.F.... Weiss S.2003EPM2A
32Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation. (14532330)Fernandez-Sanchez M.E.... Rodriguez de Cordoba S.2003PPP1R3C, EPM2A, CDKN3
33Lafora disease. A new case of confirmation of diagnosis on molecular genetic studies (11988905)Martinez-Bermejo A.... Perez-Mies B.2002EPM2A
34A unique carbohydrate binding domain targets the Lafora disease phosphatase to glycogen. (11739371)Wang J.... Dixon J.E.2002EPM2A, CDKN3
35Mutation screening for Japanese Lafora's disease patients: identification of novel sequence variants in the coding and upstream regulatory regions of EPM2A gene. (11735300)Ganesh S.... Yamakawa K.2001EPM2A, CDKN3
36Lafora's disease: towards a clinical, pathologic, and molecular synthesis. (11483392)Minassian B.A.2001EPM2A, CDKN3
37Identification of new and common mutations in the EPM2A gene in Lafora disease. (10668720)Minassian B.A.... Scherer S.W.2000EPM2A
38Identification of a recombination event narrowing the Lafora disease gene region. (9222970)Maddox L.O.... Kuzniecky R.1997EPM2A
39Lafora disease is not linked to the Unverricht-Lundborg locus. (7485240)Labauge P.... Pellissier J.F.1995EPM2A

Expression for genes affiliated with Lafora Disease

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Lafora Disease

Pathways for genes affiliated with Lafora Disease

Sources:
20KEGG, 41Thomson Reuters, 36QIAGEN, 10EMD Millipore
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Compounds for genes affiliated with Lafora Disease

Sources:
32Novoseek , 9DrugBank, 42Tocris Bioscience, 18HMDB
See all sources

Compounds related to lafora disease according to GeneDecks:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1tungstate32 10.4ACP1, DUSP13
24-methylumbelliferyl phosphate32 10.4DUSP19, CDKN3
3cytostatin32 10.4CDKN3, DUSP19
4cap-p32 10.4CDKN3, DUSP19
5dinophysistoxin 132 10.4DUSP19, CDKN3
6fostriecin32 10.3DUSP19, CDKN3
7tautomycin32 10.3DUSP19, CDKN3
8starch32 10.3GBE1, EPM2A, ACP1
9p-nitrophenyl phosphate32 10.2ACP1, DUSP19, CDKN3
10adenosine 5-o-(3-thiotriphosphate)32 10.2CDKN3, DUSP19
11sodium stibogluconate32 9 9 12.2ACP1, CDKN3
12trifluoperazine32 9 9 12.2CDKN3, DUSP19, ACP1
13sodium orthovanadate32 10.2ACP1, DUSP19, CDKN3
14microcystin-lr32 10.2DUSP19, CDKN3
15phenylarsine oxide32 10.2ACP1, DUSP19, CDKN3
16fluoride32 10.1CDKN3, DUSP19, ACP1
17cl 10032 10.1CDKN3, DUSP13, DUSP19, ACP1
18phosphothreonine32 10.1ACP1, DUSP19, DUSP13, CDKN3
19calyculin a32 42 9 9 13.0ACP1, DUSP19, CDKN3
20pt 142 9.9PRKAB2, PRKAB1
21dorsomorphin dihydrochloride42 9.9PRKAB2, PRKAB1
22sams peptide42 9.9PRKAB2, PRKAB1
23metformin hydrochloride42 9.9PRKAB2, PRKAB1
24ganciclovir32 9 9 11.8ACP1, DUSP19, CDKN3
25inositol32 9.6CDKN3, HSPA4, DUSP19, ACP1
26herbimycin a32 42 10.6CDKN3, HSPA4, DUSP19, ACP1
27nocodazole32 42 9 9 12.6DUSP19, TUBG2, HSPA4, CDKN3
28azetidine32 9.6HSPA4, HSPA5
29nmda32 42 10.4ACP1, DUSP19, HSPA4, CDKN3, PARK2
30c2ceramide32 9.4DUSP19, HSPA4, CDKN3
31iodoacetamide32 9.3ACP1, HSPA4, HSPA5
32delta-12-pgj232 9.2HSPA4, HSPA5
33phosphoserine32 18 10.2ACP1, DUSP19, DUSP13, HSPA5, CDKN3
34okadaic acid32 42 10.2ACP1, DUSP19, HSPA5, CDKN3, PARK2
35lactacystin32 9.1PARK2, CDKN3, HSPA5, HSPA4
36thapsigargin32 42 9.9DUSP19, HSPA4, HSPA5, CDKN3
37wortmannin32 42 9.8PRKAB1, ACP1, DUSP19, HSPA5, CDKN3
38Adenosine monophosphate9 18 9 10.6PRKAB2, PRKAB1, STUB1, TRIM32, UBE2D1, PARK2
39cysteine32 8.6CSTB, ACP1, NFU1, DUSP19, DUSP13, HSPA5
40threonine32 8.4PRKAB1, ACP1, DUSP19, DUSP13, HSPA5, CDKN3
41genistein32 9 18 9 11.4PRKAB1, ACP1, DUSP19, HSPA4, HSPA5, CDKN3
42iron32 18 9.4NFU1, HSPA4, HSPA5, UBE2D1, PARK2
43superoxide32 18 9.2PARK2, HSPA5, HSPA4, PRKAB1, CSTB
44dopamine32 9 18 9 11.1ACP1, DUSP19, HSPA4, HSPA5, PARK2
45glutamine32 8.1PRKAB1, STUB1, ACP1, HSPA4, HSPA5, PARK2
46glycogen32 18 9.0PARK2, GBE1, EPM2A, NHLRC1, PRKAB1, PPP1R3C
47atp32 7.9PRKAB1, DUSP19, HSPA4, HSPA5, CDKN3, PARK2
48h2o232 7.9PRKAB1, ACP1, DUSP19, DUSP13, HSPA4, HSPA5
49tyrosine32 7.7EPM2A, PRKAB1, STUB1, ACP1, DUSP19, DUSP13
50serine32 7.5CSTB, PRKAB1, ACP1, DUSP19, DUSP13, HSPA4

GO Terms for genes affiliated with Lafora Disease

Sources:
12Gene Ontology
See all sources

Cellular components related to lafora disease according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1AMP-activated protein kinase complexGO:0315889.3PRKAB1, PRKAB2
2endoplasmic reticulumGO:0057838.4EPM2AIP1, EPM2A, NHLRC1, HSPA5, PARK2, CLN3
3cytoplasmGO:0057377.1NFU1, ACP1, STUB1, CSTB, NNAT, DUSP13
4cytosolGO:0058296.5PARK2, GBE1, EPM2A, PRKAB2, PRKAB1, STUB1

Biological processes related to lafora disease according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305128.6UBC, HSPA5, STUB1
2positive regulation of protein ubiquitinationGO:0313988.3NHLRC1, STUB1, HSPA5, UBE2D1
3protein polyubiquitinationGO:0002098.2PARK2, UBC, UBE2D1, TRIM32, STUB1, NHLRC1

Molecular functions related to lafora disease according to GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1protein tyrosine/serine/threonine phosphatase activityGO:00813810.0CDKN3, DUSP13, EPM2A
2protein tyrosine phosphatase activityGO:0047259.8EPM2A, DUSP19, DUSP13, CDKN3
3protein serine/threonine phosphatase activityGO:0047229.7CDKN3, PPP1R3C, EPM2A
4AMP-activated protein kinase activityGO:0046799.3PRKAB1, PRKAB2
5misfolded protein bindingGO:0517879.2HSPA5, STUB1
6ubiquitin-protein ligase activityGO:0048428.9NHLRC1, STUB1, TRIM32, UBE2D1, PARK2
7protein bindingGO:0055155.3ACP1, STUB1, PRKAB1, PRKAB2, NHLRC1, EPM2A

Sources for Lafora Disease

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS