{"orpha":199351,"name":"PLA2G6-related neurodegeneration, adult-onset","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Dystonia-parkinsonism, Paisan-Ruiz type","PARK14","PLA2G6-related dystonia-parkinsonism","PLA2G6-associated neurodegeneration, adult-onset","Adult-onset dystonia-parkinsonism","Adult PLAN","Adult phospholipase A2-associated neurodegeneration"],"definition":"A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-199351/","orphanet_url":"https://www.orpha.net/en/disease/detail/199351","names":{"fr":{"name":"Neurodégénérescence de l'adulte associée à PLA2G6","synonyms":["Dystonie-parkinsonisme associées à PLA2G6","Dystonie-parkinsonisme type Paisan-Ruiz","PARK14","Dystonie-parkinsonisme de l'adulte","Neurodégénérescence de l'adulte associée à la phospholipase A2"],"definition":"La dystonie-parkinsonisme de l'adulte est une maladie neurodégénérative rare qui se présente généralement avant l'âge de 30 ans. Elle se caractérise par une dystonie, un syndrome parkinsonien sensible à la lévodopa (L-dopa), un syndrome pyramidal et une détérioration rapide des fonctions cognitives."},"de":{"name":"PLA2G6-assoziierte Neurodegeneration, adulte Form","synonyms":["Adulte PLAN","Dystonie-Parkinsonismus mit Beginn im Erwachsenenalter","Dystonie-Parkinson-Syndrom Typ Paisan-Ruiz","PARK14","PLA2G6-abhängiger-Dystonie-Parkinsonismus","Phospholipase A2-assoziierte Neurodegeneration mit Beginn im Erwachsenenalter"],"definition":"Der Dystonie-Parkinsonismus mit Beginn im Erwachsenenalter ist eine seltene neurodegenerative Erkrankung, die in der Regel vor dem 30. Lebensjahr manifest wird und durch Dystonie, L-Dopa-responsiven Parkinsonismus, Pyramidenzeichen und schnellen kognitiven Abbau gekennzeichnet ist."},"es":{"name":"Neurodegeneración asociada al gen PLA2G6 de inicio en el adulto","synonyms":["PLAN en el adulto","Neurodegeneración asociada a la fosfolipasa A2 en el adulto","Distonía-parkinsonismo tipo Paisan-Ruiz","PARK14","Distonía-parkinsonismo de inicio en el adulto","Distonía-parkinsonismo asociados al gen PLA2G6"],"definition":"Es una enfermedad neurodegenerativa poco frecuente que se suele presentar antes de los treinta años de edad y caracterizada por distonía, parkinsonismo sensible a L-dopa, signos piramidales y un rápido declive cognitivo."},"it":{"name":"Neurodegenerazione correlata a PLA2G6 ad esordio nell'età adulta","synonyms":["Distonia-parkinsonismo PLA2G6-correlato","PLAN dell'adulto","Distonia-parkinsonismo a esordio nell'età adulta","PARK14","Distonia-parkinsonismo, tipo Paisan-Ruiz","Neurodegenerazione associata a PLA2G6 ad esordio nell'età adulta","Neurodegenerazione associata alla fosfolipasi A2 nell'adulto"],"definition":"La distonia-parkinsonismo ad esordio nell'età adulta è una malattia neurodegenerativa rara, che di solito esordisce prima dei 30 anni, ed è caratterizzata da distonia, parkinsonismo L-Dopa-sensibile, segni piramidali e rapido declino cognitivo."},"nl":{"name":"PLA2G6-gerelateerde neurodegeneratie, volwassen aanvang","synonyms":["PLA2G6-geassocieerde neurodegeneratie beginnend op volwassen leeftijd","Dystonie-parkinsonisme beginnend op volwassen leeftijd","PLAN bij volwassene","Neurodegeneratie geassocieerd met fosfolipase A2 bij volwassene","Dystonie-parkinsonisme, Paisan-Ruiz-type","PARK14","PLA2G6-gerelateerde dystonie-parkinsonisme"],"definition":"Een zeldzame neurodegeneratieve ziekte die doorgaans aanvangt voor de leeftijd van 30 jaar en die gekarakteriseerd wordt door dystonie, L-DOPA-responsief parkinsonisme, piramidale indicaties en snelle cognitieve aftakeling."},"pt":{"name":"Distonia-parkinsonismo de início no adulto","synonyms":["Distonia-parkinsonismo tipo Paisan-Ruiz"],"definition":"A distonia-parkinsonismo tipo Paisan-Ruiz é uma síndrome de distonia-parkinsonismo de apresentação no adulto, caracterizada por manifestações extrapiramidais (distonia, bradicinésia), problemas cognitivos/psiquiátricos, atrofia cerebral e cerebelar e ausência de ferro nos gânglios basais na ressonância magnética."},"pl":{"name":"Dystonia-parkinsonizm o początku w wieku dorosłym","synonyms":["Dystonia-parkinsonizm związana z plA2G6","Dystonia-parkinsonizm, typ Paisana i Ruiza","PARK14"]},"cs":{"name":"Dystonie a parkinsonismus s nástupem v dospělosti","synonyms":["Dystonie a parkinsonismus, Paisan-Ruizové typ","PARK14","Dystonie a parkinsonismus související s PLA2G6"]},"uk":{"name":"Дистонія-паркінсонізм у дорослих","synonyms":["Дистонія-паркінсонізм, тип Пайсан-Руїса","PARK14","Дистонія-паркінсонізм, повязана з PLA2G6"],"definition":"A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline."},"zh":{"name":"成人发病的肌张力障碍-帕金森综合征","synonyms":["Paisan-Ruiz型肌张力障碍-帕金森症"],"definition":"成人起病肌张力障碍-帕金森综合征是一种罕见的神经退行性疾病，其主要临床表现为肌张力障碍、左旋多巴反应性帕金森综合征、锥体束征和认知能力迅速下降，发病年龄多在30岁之前。"},"tr":{"name":"Yetişkin başlangıçlı distoni-parkinsonizm","synonyms":["PARK14","PLA2G6-ilişkili distoni-parkinsonizm","Distoni-parkinsonizm, Paisan-Ruiz tipi"]}},"xrefs":[{"source":"OMIM","code":"612953","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G24.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A00.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1428683065"},{"source":"MONDO","code":"0013060","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567844","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2751842","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12568","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":329303,"name":"PLA2G6-related neurodegeneration","classifications":[150,156,181]},{"orpha":391711,"name":"Persistent combined dystonia","classifications":[156,181]},{"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":"PLA2G6","name":"phospholipase A2 group VI","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9039","ensembl":"ENSG00000184381","omim":"603604","loci":["22q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"18570303[PMID]_20938027[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-23","source":"26196026[PMID]_20619503[PMID]_20938027[PMID]_21700586[PMID]_22030388[PMID]_20482602[PMID]","terms":[{"hpo":"HP:0040081","label":"Abnormal circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010522","label":"Dyslexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000658","label":"Eyelid apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004373","label":"Focal dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006892","label":"Frontotemporal cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002145","label":"Frontotemporal dementia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007058","label":"Generalized cerebral atrophy/hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000571","label":"Hypometric saccades","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000338","label":"Hypomimic face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002185","label":"Neurofibrillary tangles","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:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007153","label":"Progressive extrapyramidal movement disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025262","label":"Stiff hip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000746","label":"Delusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012675","label":"Iron accumulation in brain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011999","label":"Paranoia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000751","label":"Personality changes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000605","label":"Supranuclear gaze palsy","frequency":"Occasional (29-5%)","criteria":null}]}}