{"orpha":411602,"name":"Hereditary late-onset Parkinson disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant late-onset Parkinson disease","LOPD"],"definition":"Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-411602/","orphanet_url":"https://www.orpha.net/en/disease/detail/411602","names":{"fr":{"name":"Maladie de Parkinson héréditaire à début tardif","synonyms":["LOPD","Maladie de Parkinson autosomal dominant à début tardif"],"definition":"Forme de la maladie de Parkinson (MP) caractérisée par une apparition après l'âge de 50&nbsp;ans, des tremblements au repos, des troubles de la marche et des chutes, une bradykinésie, une rigidité et des crampes douloureuses. Les patients présentent généralement un faible risque de développer des symptômes non moteurs, une dystonie, une dyskinésie et une dyskinésie L-dopa induite (DIL)."},"de":{"name":"Hereditäre Parkinson-Krankheit mit spätem Beginn","synonyms":["Autosomal-dominante spät-beginnende Parkinson-Krankheit","LOPD"],"definition":"Die Hereditäre Parkinson-Krankheit mit spätem Krankheitsbeginn (LOPD) ist eine Form der Parkinson-Krankheit (PD), die sich nach dem 50.ten Lebensjahr manifestiert. Sie ist gekennzeichnet durch Ruhetremor, Gangbeschwerden und Stürze, Bradykinesie, Rigidität und schmerzhafte Krämpfe. Die Patienten weisen in der Regel ein geringes Risiko auf, nicht-motorische Symptome, Dystonie, Dyskinesie und Levodopa-induzierte Dyskinesie (LID) zu entwickeln."},"es":{"name":"Enfermedad de Parkinson hereditaria de inicio tardío","synonyms":["Enfermedad de Parkinson de inicio tardío autosómica dominante","LOPD"],"definition":"Es una forma de la enfermedad de Parkinson (EP) que debuta a partir de los 50 años de edad caracterizada por temblor de reposo, trastorno de la marcha y caídas, bradicinesia, rigidez y calambres dolorosos. Por lo general, los pacientes tienen bajo riesgo de desarrollar síntomas no motores, distonía, discinesia y discinesia inducida por levodopa (DIL)."},"it":{"name":"Malattia ereditaria di Parkison a esordio tardivo","synonyms":["LOPD","Malattia di Parkinson a esordio tardivo autosomica dominante"],"definition":"La malattia ereditaria di Parkinson ad esordio tardivo (LOPD) è una forma della malattia di Parkinson (PD) che esordisce dopo i cinquant'anni con tremore a riposo, anomalie dell'andatura e cadute, bradicinesia, rigidità e crampi dolorosi. Di solito i pazienti hanno un rischio basso di sviluppare sintomi non motori, distonia, discinesia e discinesia indotta dalla levodopa (LID)."},"nl":{"name":"Erfelijke ziekte van Parkinson met late aanvang","synonyms":["Autosomaal dominante ziekte van Parkinson met late aanvang","LOPD"],"definition":"Erfelijke ziekte van Parkinson met late aanvang (LOPD) is een vorm van ziekte van Parkinson (PD) die wordt gekarakteriseerd door een aanvangsleeftijd van meer dan 50 jaar, rusttremor, gangstoornissen en vallen, bradykinesie, rigiditeit en pijnlijke krampen. Patiënten vertonen meestal een laag risico op de ontwikkeling van niet-motorische symptomen, dystonie, dyskinesie en levodopa-geïnduceerde dyskinesie (LID)."},"pt":{"name":"Doença de Parkinson hereditária com início tardio"},"pl":{"name":"Dziedziczna choroba Parkinsona o późnym początku","synonyms":["Autosomalna dominująca choroba Parkinsona o późnym początku","LOPD"]},"cs":{"name":"Hereditární Parkinsonova nemoc s pozdním nástupem","synonyms":["LOPD","Autozomálně dominantní Parkinsonova choroba s pozdním nástupem"]},"uk":{"name":"Спадкова хвороба Паркінсона з пізнім початком","synonyms":["Аутосомно-домінантна хвороба Паркінсона з пізнім початком","LOPD"],"definition":"Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID)."},"zh":{"name":"遗传性迟发帕金森病","synonyms":["常染色体显性遗传晚期起病帕金森病"],"definition":"遗传性迟发性帕金森病（LOPD）是帕金森病（PD）的一种形式，其特征在于发病年龄超过50岁，休息时可有震颤，步态异常和跌倒，运动迟缓，僵硬和疼痛性痉挛。患者通常表现出低风险的非运动症状，肌张力障碍，运动障碍和左旋多巴诱发的运动障碍（LID）。"},"tr":{"name":"Kalıtsal geç başlangıçlı Parkinson hastalığı","synonyms":["LOPD","Otozomal dominant geç başlangıçlı Parkinson hastalığı"]}},"xrefs":[{"source":"OMIM","code":"168601","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605543","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607060","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607688","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614203","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614251","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616361","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G20","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008199","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"8199","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274355","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":276058,"name":"Genetic neurodegenerative disease with dementia","classifications":[156]},{"orpha":448426,"name":"Genetic primary orthostatic hypotension","classifications":[156]},{"orpha":98534,"name":"Neurodegenerative disease with dementia","classifications":[181]},{"orpha":182058,"name":"Primary orthostatic hypotension","classifications":[181]},{"orpha":307055,"name":"Rare parkinsonian syndrome due to genetic neurodegenerative disease","classifications":[156]},{"orpha":306666,"name":"Rare parkinsonian syndrome due to neurodegenerative disease","classifications":[181]}],"children":[],"genes":[{"symbol":"EIF4G1","name":"eukaryotic translation initiation factor 4 gamma 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"3296","ensembl":"ENSG00000114867","omim":"600495","loci":["3q27.1"]},{"symbol":"GIGYF2","name":"GRB10 interacting GYF protein 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"11960","ensembl":"ENSG00000204120","omim":"612003","loci":["2q37.1"]},{"symbol":"DNAJC13","name":"DnaJ heat shock protein family (Hsp40) member C13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"24218364[PMID]","hgnc":"30343","ensembl":"ENSG00000138246","omim":"614334","loci":["3q22.1"]},{"symbol":"LRRK2","name":"leucine rich repeat kinase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"22166458[PMID]","hgnc":"18618","ensembl":"ENSG00000188906","omim":"609007","loci":["12q12"]},{"symbol":"SNCA","name":"synuclein alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"17489854[PMID]_18704525[PMID]_20013014[PMID]_24768741[PMID]_17489854[PMID]_18704525[PMID]","hgnc":"11138","ensembl":"ENSG00000145335","omim":"163890","loci":["4q22.1"]},{"symbol":"VPS35","name":"VPS35 retromer complex component","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22166458[PMID]","hgnc":"13487","ensembl":"ENSG00000069329","omim":"601501","loci":["16q11.2"]},{"symbol":"GBA1","name":"glucosylceramidase beta 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"18987351[PMID]","hgnc":"4177","ensembl":"ENSG00000177628","omim":"606463","loci":["1q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-13","source":"19524782[PMID]_17251522[PMID]_19632874[PMID]_15541308[PMID]_20457952[PMID]_22801713[PMID]_18342564[PMID]_21907011[PMID]_24218364[PMID]","terms":[{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002304","label":"Akinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012450","label":"Chronic constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004409","label":"Hyposmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002548","label":"Parkinsonism with favorable response to dopaminergic medication","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002322","label":"Resting tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005340","label":"Spastic/hyperactive bladder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002171","label":"Gliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000338","label":"Hypomimic face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100315","label":"Lewy bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000744","label":"Low frustration tolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031435","label":"Monotonic speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004926","label":"Orthostatic hypotension due to autonomic dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002362","label":"Shuffling gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002367","label":"Visual hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100753","label":"Schizophrenia","frequency":"Very rare (<4-1%)","criteria":null}]}}