{"orpha":178509,"name":"Perry syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Parkinsonism with alveolar hypoventilation and mental depression"],"definition":"A rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-178509/","orphanet_url":"https://www.orpha.net/en/disease/detail/178509","names":{"fr":{"name":"Syndrome de Perry","synonyms":["Parkinsonisme avec hypoventilation alvéolaire et depression"],"definition":"Le syndrome de Perry est un trouble neurodégénératif congénital rare caractérisé par l'apparition brutale d'un parkinsonisme, d'une hypoventilation centrale, d'une perte de poids, d'insomnie et d'un état dépressif."},"de":{"name":"Perry-Syndrom","synonyms":["Parkinsonismus - alveolare Hypoventilation - psychische Depression"],"definition":"Das Perry-Syndrom ist eine seltene erbliche Neurodegenerative Krankheit mit schnell progredientem früh einsetzenden Parkinsonismus, zentraler Hypoventilation, Gewichtsverlust und Depression."},"es":{"name":"Síndrome de Perry","synonyms":["Parkinsonismo con hipoventilación alveolar y depresión mental"],"definition":"Es un trastorno hereditario neurodegenerativo poco frecuente que se caracteriza por parkinsonismo de aparición temprana que progresa rápidamente, hipoventilación central, pérdida de peso, insomnio y depresión."},"it":{"name":"Sindrome di Perry","synonyms":["Parkinsonismo con ipoventilazione alveolare e depressione mentale"],"definition":"La sindrome di Perry è una malattia neurodegenerativa ereditaria rara, caratterizzata da parkinsonismo progressivo a esordio precoce ed evoluzione rapida, ipoventilazione centrale, perdita di peso, insonnia e depressione."},"nl":{"name":"Syndroom van Perry","synonyms":["Parkinsonisme met alveolaire hypoventilatie en mentale depressie"],"definition":"Een zeldzame, erfelijke neurodegeneratieve aandoening, gekenmerkt door snel progressief en vroeg optredend parkinsonisme, centrale hypoventilatie, gewichtsverlies, insomnie, en depressie."},"pt":{"name":"Síndrome de Perry"},"pl":{"name":"Zespół Perry'ego","synonyms":["Parkinsonizm z hipowentylacją pęcherzykową i depresją mentalną"]},"cs":{"name":"Perryho syndrom","synonyms":["Parkinsonismus asociovaný s alveolární hypoventilací a mentální depresí"]},"uk":{"name":"Синдром Перрі","synonyms":["Паркінсонізм з альвеолярною гіповентиляцією та психічною депресією"],"definition":"A rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression."},"zh":{"name":"Perry综合征","synonyms":["帕金森症伴肺泡通气不足和精神抑郁"],"definition":"Perry综合症是一种罕见的遗传性神经退行性疾病，其临床表现为快速进展的早发性帕金森综合征、中枢性通气不足、体重减轻、失眠和抑郁。"},"tr":{"name":"Perry sendromu","synonyms":["Alveolar hipoventilasyon ve mental depresyon ile seyreden parkinsonizm"]}},"xrefs":[{"source":"OMIM","code":"168605","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G23.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A00.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1441227658"},{"source":"MONDO","code":"0008201","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566822","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1868594","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10453","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10079207","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"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":"DCTN1","name":"dynactin subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2711","ensembl":"ENSG00000204843","omim":"601143","loci":["2p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":53.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007110","label":"Central hypoventilation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000751","label":"Personality changes","frequency":"Occasional (29-5%)","criteria":null}]}}