{"orpha":501,"name":"Lafora disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EPM2","PME type 2","Progressive myoclonic epilepsy type 2","Progressive myoclonus epilepsy type 2"],"definition":"A rare, inherited, severe form of progressive myoclonus epilepsy characterized by drug-resistant epilepsy, myoclonus, and psychomotor deterioration affecting previously healthy children or adolescents.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-501/","orphanet_url":"https://www.orpha.net/en/disease/detail/501","names":{"fr":{"name":"Maladie de Lafora","synonyms":["EMP type 2","EPM2","Epilepsie myoclonique progressive type 2","PME type 2"],"definition":"Forme rare, héréditaire et grave d'épilepsie myoclonique progressive caractérisée par une épilepsie pharmacorésistante, des myoclonies et une détérioration psychomotrice affectant des enfants ou des adolescents jusqu'alors en bonne santé."},"de":{"name":"Lafora-Krankheit","synonyms":["EPM2","Epilepsie, myoklonische progressive, Typ 2","PME Typ 2","Progressive Myoklonus-Epilepsie Typ 2"],"definition":"Eine schwere Form der progressiven Myoklonus-Epilepsie, die durch medikamentenresistente Epilepsie, Myoklonus und psychomotorische Verschlechterung gekennzeichnet ist und zuvor gesunde Kinder oder Jugendliche betrifft."},"es":{"name":"Enfermedad de Lafora","synonyms":["EMP tipo 2","EPM2","Epilepsia mioclónica progresiva tipo 2","Epilepsia progresiva con mioclonías tipo 2"],"definition":"Es una forma poco frecuente, hereditaria y grave de epilepsia mioclónica progresiva caracterizada por epilepsia refractaria a los medicamentos, mioclono y deterioro psicomotor que afecta a niños o adolescentes previamente sanos."},"it":{"name":"Malattia di Lafora","synonyms":["EPM2","Epilessia mioclonica progressiva, tipo 2","PME, tipo 2"],"definition":"La malattia di Lafora (LD) è una grave epilessia mioclonica progressiva ereditaria rara. È caratterizzata da mioclono e/o crisi epilettiche generalizzate, allucinazioni visive (crisi parziali occipitali) e deterioramento neurologico progressivo."},"nl":{"name":"Ziekte van Lafora","synonyms":["EPM2","PME type 2","Progressieve myoclonische epilepsie type 2","Progressieve myoclonusepilepsie type 2"],"definition":"Een zeldzame, erfelijke, ernstige vorm van progressieve myoclonusepilepsie, gekenmerkt door medicatieresistente epilepsie, myoclonus, en psychomotorische achteruitgang die voorheen gezonde kinderen of adolescenten treft."},"pt":{"name":"Doença de Lafora","synonyms":["Epilepsia mioclónica progressiva tipo 2"]},"pl":{"name":"Choroba ciałek Lafora","synonyms":["EPM2","PME typu 2","Postępująca padaczka miokloniczna typu 2","Progressive myoclonus epilepsy type 2"]},"cs":{"name":"Laforova nemoc","synonyms":["EPM2","PME, typ 2","Progresivní myoklonická epilepsie Laforova typu","Progresivní myoklonická epilepsie, typ 2"]},"uk":{"name":"Хвороба Лафора","synonyms":["EPM2","PME тип 2","Прогресуюча міоклонічна епілепсія типу 2","Прогресуюча міоклонусна епілепсія типу 2"],"definition":"A rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline."},"zh":{"name":"Lafora病","synonyms":["进行性肌阵挛性癫痫2型"]},"tr":{"name":"Lafora hastalığı","synonyms":["EPM2","PME tip 2","İlerleyici miyoklonik epilepsi tip 2","İlerleyici miyoklonus epilepsi tip 2"]}},"xrefs":[{"source":"OMIM","code":"254780","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620681","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.41","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"558455490"},{"source":"MONDO","code":"0009697","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020192","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751783","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8214","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10054030","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98261,"name":"Progressive myoclonic epilepsy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"EPM2A","name":"EPM2A glucan phosphatase, laforin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301563[PMID]_22047982[PMID]_22669944[PMID]","hgnc":"3413","ensembl":"ENSG00000112425","omim":"607566","loci":["6q24.3"]},{"symbol":"NHLRC1","name":"NHL repeat containing E3 ubiquitin protein ligase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301563[PMID]_22047982[PMID]_22669944[PMID]","hgnc":"21576","ensembl":"ENSG00000187566","omim":"608072","loci":["6p22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"France","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"25217339[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.02,"area":"Worldwide","status":"Validated","source":"29489177[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-02","source":"30143794[PMID]_15781812[PMID]_20301563[PMID]_28800070[PMID]_30638256[PMID]","terms":[{"hpo":"HP:0100318","label":"Lafora bodies","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025357","label":"Erratic myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001312","label":"Giant somatosensory evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002100","label":"Recurrent aspiration pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002367","label":"Visual hallucinations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010819","label":"Atonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007270","label":"Atypical absence seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007334","label":"Bilateral tonic-clonic seizure with focal onset","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011165","label":"Focal sensory seizure with visual features","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007537","label":"Severe photosensitivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031358","label":"Vegetative state","frequency":"Occasional (29-5%)","criteria":null}]}}