{"orpha":2828,"name":"Young-onset Parkinson disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Early-onset Parkinson disease","YOPD"],"definition":"A rare parkinsonian disorder characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most forms of this disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2828/","orphanet_url":"https://www.orpha.net/en/disease/detail/2828","names":{"fr":{"name":"Maladie de Parkinson à début précoce","synonyms":["Maladie de Parkinson précoce","YOPD"],"definition":"Maladie parkinsonienne rare caractérisée par un âge d'apparition compris entre 21 et 45 ans, une rigidité, des crampes douloureuses suivies de tremblements, une bradykinésie, une dystonie, des troubles de la marche et des chutes, ainsi que d'autres signes non moteurs. On observe dans la plupart des formes de cette maladie une progression lente et une réponse plus prononcée au traitement dopaminergique."},"de":{"name":"Parkinson-Syndrom, früh-adultes","synonyms":["Früh beginnende Parkinson-Krankheit","Früh-adulte Form des Parkinson-Syndroms","YOPD"],"definition":"Eine seltene Parkinson-Erkrankung im frühen Erwachsenenalter, die sich durch Steifigkeit, schmerzhafte Krämpfe, gefolgt von Tremor, Bradykinesie, Dystonie, Gangstörungen und Stürzen sowie anderen nicht-motorischen Symptomen manifestiert. Ein langsames Fortschreiten der Erkrankung und ein besseres Ansprechen auf eine dopaminerge Therapie werden bei den meisten Formen dieser Erkrankung beobachtet."},"es":{"name":"Enfermedad de Parkinson de inicio juvenil","synonyms":["Enfermedad de Parkinson de inicio precoz","YOPD"],"definition":"Es un trastorno parkinsoniano poco frecuente caracterizado por una edad de inicio entre los 21 y 45 años de edad, con rigidez, calambres dolorosos seguidos de temblor, bradicinesia, distonía, alteraciones de la marcha y caídas, así como otros síntomas no motores. En la mayoría de las formas de este trastorno también se observa una progresión lenta de la enfermedad y una respuesta más pronunciada a la terapia dopaminérgica."},"it":{"name":"Malattia di Parkinson ad esordio giovanile","synonyms":["Malattia di Parkinson a esordio giovanile","Malattia di Parkinson a esordio precoce"],"definition":"La malattia di Parkinson ad esordio giovanile (YOPD) è un parkinsonismo genetico raro, che esordisce tra i 21 e i 45 anni con rigidità, crampi dolorosi seguiti da tremori, bradicinesia, distonia, anomalie dell'andatura, cadute e altri sintomi non motori. Nella maggior parte delle forme della malattia si osserva una progressione lenta e una risposta marcata alla terapia con dopaminergici."},"nl":{"name":"Ziekte van Parkinson met aanvang op jonge leeftijd","synonyms":["YOPD","Ziekte van Parkinson met vroege aanvang"],"definition":"Een zeldzame vorm van ziekte van Parkinson, gekenmerkt door een aanvangsleeftijd tussen 21 en 45 jaar, rigiditeit, pijnlijke krampen gevolgd door tremor, bradykinesie, dystonie, gangstoornissen en vallen, en andere niet-motorische symptomen. Trage progressie en een meer uitgesproken respons op dopaminerge therapie worden ook waargenomen bij de meeste vormen van deze ziekte."},"pt":{"name":"Doença de Parkinson de início juvenil"},"pl":{"name":"Parkinsonizm młodych dorosłych","synonyms":["Choroba Parkinsona o wczesnym początku","Młodzieńcza choroba Parkinsona"]},"cs":{"name":"Parkinsonova choroba s časným nástupem","synonyms":["YOPD","Parkinsonova choroba s časným začátkem"]},"uk":{"name":"Хвороба Паркінсона з раннім початком","synonyms":["Хвороба Паркінсона з раннім початком","YOPD"],"definition":"A rare, genetic, parkinsonian disorder characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most forms of this disease."},"zh":{"name":"青年发病型帕金森病","synonyms":["早发帕金森病"]},"tr":{"name":"Genç başlangıçlı Parkinson hastalığı","synonyms":["YOPD","Erken başlangıçlı Parkinson hastalığı"]}},"xrefs":[{"source":"OMIM","code":"300557","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600116","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"602404","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605909","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606324","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606852","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610297","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613643","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615528","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616840","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G20","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A00.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1032409441"},{"source":"MONDO","code":"0017279","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4275179","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":448426,"name":"Genetic primary orthostatic hypotension","classifications":[156]},{"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":"HTRA2","name":"HtrA serine peptidase 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"21701785[PMID]","hgnc":"14348","ensembl":"ENSG00000115317","omim":"606441","loci":["2p13.1"]},{"symbol":"LRRK2","name":"leucine rich repeat kinase 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"22166458[PMID]","hgnc":"18618","ensembl":"ENSG00000188906","omim":"609007","loci":["12q12"]},{"symbol":"SNCA","name":"synuclein alpha","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"17489854[PMID]_18704525[PMID]_20013014[PMID]_24768741[PMID]","hgnc":"11138","ensembl":"ENSG00000145335","omim":"163890","loci":["4q22.1"]},{"symbol":"UCHL1","name":"ubiquitin C-terminal hydrolase L1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"12513","ensembl":"ENSG00000154277","omim":"191342","loci":["4p13"]},{"symbol":"DNAJC6","name":"DnaJ heat shock protein family (Hsp40) member C6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26528954[PMID]","hgnc":"15469","ensembl":"ENSG00000116675","omim":"608375","loci":["1p31.3"]},{"symbol":"PODXL","name":"podocalyxin like","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26864383[PMID]","hgnc":"9171","ensembl":"ENSG00000128567","omim":"602632","loci":["7q32.3"]},{"symbol":"VPS13C","name":"vacuolar protein sorting 13 homolog C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26942284[PMID]","hgnc":"23594","ensembl":"ENSG00000129003","omim":"608879","loci":["15q22.2"]},{"symbol":"PARK7","name":"Parkinsonism associated deglycase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22166458[PMID]","hgnc":"16369","ensembl":"ENSG00000116288","omim":"602533","loci":["1p36.23"]},{"symbol":"PINK1","name":"PTEN induced kinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22166458[PMID]","hgnc":"14581","ensembl":"ENSG00000158828","omim":"608309","loci":["1p36.12"]},{"symbol":"PRKN","name":"parkin RBR E3 ubiquitin protein ligase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22166458[PMID]","hgnc":"8607","ensembl":"ENSG00000185345","omim":"602544","loci":["6q26"]},{"symbol":"SYNJ1","name":"synaptojanin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23804577[PMID]_23804563[PMID]","hgnc":"11503","ensembl":"ENSG00000159082","omim":"604297","loci":["21q22.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":15.0,"area":"Europe","status":"Validated","source":"ORPHANET_23083512[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"15172778[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-08-08","source":"24631501[PMID]_25744440[PMID]_31176633[PMID]_20301792[PMID]","terms":[{"hpo":"HP:0002063","label":"Rigidity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000551","label":"Color vision defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030014","label":"Female sexual dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002578","label":"Gastroparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004409","label":"Hyposmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100785","label":"Insomnia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040307","label":"Male sexual dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025269","label":"Panic attack","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012760","label":"Reduced social responsiveness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012452","label":"Restless legs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000727","label":"Frontal lobe dementia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Very rare (<4-1%)","criteria":null}]}}