{"orpha":683,"name":"Progressive supranuclear palsy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PSP syndrome"],"definition":"A rare late-onset neurodegenerative disease characterized by ocular motor dysfunction, postural instability, akinesia-rigidity, and cognitive dysfunction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-683/","orphanet_url":"https://www.orpha.net/en/disease/detail/683","names":{"fr":{"name":"Paralysie supranucléaire progressive","synonyms":["Syndrome PSP"],"definition":"Maladie neurodégénérative rare d'apparition tardive caractérisée par un dysfonctionnement des muscles oculomoteurs, une instabilité posturale, une akinésie-rigidité et un trouble cognitif."},"de":{"name":"Progressive supranukleäre Blickparese","synonyms":["PSP-Syndrom"],"definition":"Eine seltene, spät auftretende neurodegenerative Erkrankung, die durch okulomotorische Dysfunktion, posturale Instabilität, Akinesie-Starrheit und kognitive Dysfunktion gekennzeichnet ist."},"es":{"name":"Parálisis supranuclear progresiva","synonyms":["Síndrome PSP"],"definition":"Es una enfermedad neurodegenerativa poco frecuente de inicio tardío caracterizada por disfunción oculomotora, inestabilidad postural, acinesia-rigidez y disfunción cognitiva."},"it":{"name":"Paralisi sopranucleare progressiva","synonyms":["PSP"],"definition":"Si tratta di una malattia neurodegenerativa rara ad esordio tardivo, caratterizzata da disfunzione dei muscoli oculomotori, instabilità posturale, acinesia-rigidità e disfunzione cognitiva."},"nl":{"name":"Progressieve supranucleaire paralyse","synonyms":["PSP-syndroom","Progressieve supranucleaire verlamming"],"definition":"Een zeldzame neurodegeneratieve aandoening, gekenmerkt door oculaire motorische disfunctie, posturale instabiliteit, akinesie-rigiditeit, en cognitieve disfunctie."},"pt":{"name":"Parésia supranuclear progressiva","synonyms":["Doença de Steele-Richardson-Olszewski","PSP"],"definition":"Doença neurodegenerativa rara, de início tardio, caracterizada por disfunção motora ocular, instabilidade postural, acinesia-rigidez e disfunção cognitiva."},"pl":{"name":"Postępujące porażenie nadjądrowe","synonyms":["PSP"]},"cs":{"name":"Progresivní supranukleární obrna","synonyms":["Syndrom PSP"]},"uk":{"name":"Прогресуючий надядерний параліч","synonyms":["PSP-синдром"],"definition":"A rare late-onset neurodegenerative disease characterized by ocular motor dysfunction, postural instability, akinesia-rigidity, and cognitive dysfunction."},"zh":{"name":"进行性核上性麻痹","synonyms":["PSP综合征"]},"tr":{"name":"İlerleyici supranüklear felç","synonyms":["PSP sendromu"]}},"xrefs":[{"source":"OMIM","code":"260540","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601104","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609454","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610898","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G23.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"8A00.10","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1493396558"},{"source":"MONDO","code":"0019037","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D013494","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0038868","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7471","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10036813","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98535,"name":"Frontotemporal degeneration with dementia","classifications":[181]},{"orpha":306708,"name":"Frontotemporal neurodegeneration with movement disorder","classifications":[156,181]},{"orpha":276061,"name":"Genetic frontotemporal degeneration with dementia","classifications":[156]},{"orpha":98687,"name":"Supranuclear eye movement disorder","classifications":[156,189]}],"children":[{"orpha":99750,"name":"Atypical progressive supranuclear palsy syndrome","type":"Clinical subtype"},{"orpha":240071,"name":"Classic progressive supranuclear palsy syndrome","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"MAPT","name":"microtubule associated protein tau","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":null,"hgnc":"6893","ensembl":"ENSG00000186868","omim":"157140","loci":["17q21.31"],"via":{"orpha":240071,"name":"Classic progressive supranuclear palsy syndrome"}}],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.75,"area":"United Kingdom","status":"Validated","source":"21088431[PMID]_10577638[PMID]_11408338[PMID]_ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":0.65,"area":"Worldwide","status":"Validated","source":"11487180[PMID]_9371909[PMID]_4792160[PMID]_3405368[PMID]_6333204[PMID]_3386818[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.26,"area":"Worldwide","status":"Validated","source":"27037234[PMID]_34220661[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":14.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2015[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.39,"area":"United States","status":"Validated","source":"3386818[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.2,"area":"Italy","status":"Validated","source":"9613728[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":14.0,"area":"Guadeloupe","status":"Validated","source":"11912113[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Libyan Arab Jamahiriya","status":"Validated","source":"3405368[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.63,"area":"United States","status":"Validated","source":"6333204[PMID]_9371909[PMID]_3386818[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Australia","status":"Validated","source":"4792160[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-09-05","source":"31779824[PMID]_6847139[PMID]_25732053[PMID]","terms":[{"hpo":"HP:0012535","label":"Abnormal synaptic transmission","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002527","label":"Falls","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002529","label":"Neuronal loss in central nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000605","label":"Supranuclear gaze palsy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000623","label":"Supranuclear ophthalmoplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","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:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002171","label":"Gliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002200","label":"Pseudobulbar signs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000514","label":"Slow saccadic eye movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000511","label":"Vertical supranuclear gaze palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}