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EPM2
MCID: LFR002
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Lafora Disease malady |
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3 drugs, 23 genes, 5 tissues, 426 related diseases, 6 phenotypes, 39 articles, clinical trials, genetic tests.
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Sources: 17Genetics Home Reference, 30NIH Rare Diseases, 44Wikipedia, 15GeneReviews, 22MalaCards See all sources Export this MalaCard |
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 |
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Sources: 6Disease Ontology, 15GeneReviews, 30NIH Rare Diseases, 17Genetics Home Reference, 8DISEASES, 32Novoseek , 43UMLS, 16GeneTests, 24MeSH, 33OMIM, 27NCIt, 40SNOMED-CT See all sources |
Aliases & Descriptions:
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-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 Inferred drug relations via UMLS/NDF-RT:43 28 anti-epileptic agent [epc], clonazepam, primidone |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to lafora disease:22Brain, Heart, Liver, Skin, B cells
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to lafora disease:25
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Sources: 35PubMed See all sources |
Articles related to lafora disease:(show all 39)
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Sources: 1BioGPS See all sources |
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Sources: 20KEGG, 41Thomson Reuters, 36QIAGEN, 10EMD Millipore See all sources |
Pathways related to lafora disease according to GeneDecks:
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Sources: 32Novoseek , 9DrugBank, 42Tocris Bioscience, 18HMDB See all sources |
Compounds related to lafora disease according to GeneDecks:(show top 50) (show all 56)
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Sources: 12Gene Ontology See all sources |
Cellular components related to lafora disease according to GeneDecks:
Biological processes related to lafora disease according to GeneDecks:
Molecular functions related to lafora disease according to GeneDecks:(show all 7)
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