{"orpha":171695,"name":"Parkinsonian-pyramidal syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Pallidopyramidal syndrome"],"definition":"Parkinsonian-pyramidal syndrome is a rare, genetic, neurological disorder characterized by the association of both parkinsonian (i.e. bradykinesia, rigidity and/or rest tremor) and pyramidal (i.e. increased reflexes, extensor plantar reflexes, pyramidal weakness or spasticity) manifestations, which vary according to the underlying associated disease (e.g. neurodegenerative disease, inborn errors of metabolism).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171695/","orphanet_url":"https://www.orpha.net/en/disease/detail/171695","names":{"fr":{"name":"Syndrome parkinsonien-pyramidal","synonyms":["Syndrome pallido-pyramidal"],"definition":"Maladie neurologique génétique rare caractérisée par l'association de signes de la maladie de Parkinson (bradykinésie, rigidité et/ou tremblement de repos) et d'atteinte pyramidale (augmentation des réflexes, réflexe de Babinski, atteinte pyramidale avec faiblesse ou spasticité), qui varient en fonction de la maladie sous-jacente associée (par exemple, maladie neurodégénérative, erreurs innées du métabolisme)."},"de":{"name":"Parkinson-pyramidales Syndrom","synonyms":["Pallido-pyramidales Syndrom"]},"es":{"name":"Síndrome parkinsoniano piramidal","synonyms":["Síndrome palidopiramidal"],"definition":"Es un trastorno neurológico de origen genético y poco frecuente caracterizado por la asociación de manifestaciones parkinsonianas (bradicinesia, rigidez y/o temblor de reposo) y piramidales (aumento de los reflejos, reflejo plantar extensor, debilidad piramidal o espasticidad), que varían según la enfermedad subyacente asociada (por ejemplo, enfermedad neurodegenerativa, errores innatos del metabolismo)."},"it":{"name":"Sindrome parkinsoniana piramidale","synonyms":["Sindrome pallido-piramidale"],"definition":"La sindrome parkinsoniana piramidale è una malattia neurologica genetica rara, caratterizzata dall'associazione tra i segni del parkinsonismo (bradicinesia, rigidità e/o tremore a riposo) e segni piramidali (aumento dei riflessi, riflessi plantari in estensione, debolezza piramidale o spasticità), che variano a seconda della malattia preesistente (malattia neurodegenerativa, difetti congeniti del metabolismo)."},"nl":{"name":"Parkinson-piramidaal syndroom","synonyms":["Pallidopiramidaal syndroom"],"definition":"Parkinson-piramidaal syndroom is een zeldzame, genetische, neurologische stoornis die gekarakteriseerd wordt door de associatie van parkinsoniaanse (i.e. bradykinesie, rigiditeit en/of rusttremor) en piramidale (i.e. verhoogde reflexen, voetzoolreflex in extensie, piramidale zwakte of spasticiteit) manifestaties, die variëren naargelang de onderliggende geassocieerde ziekte (e.g. neurodegeneratieve ziekte, aangeboren fouten van het metabolisme)."},"pt":{"name":"Síndrome parkinsoniano-piramidal"},"pl":{"name":"Zespół parkinsonowsko-piramidowy","synonyms":["Zespół palidopiramidalny"]},"cs":{"name":"Parkinsonicko-pyramidální syndrom","synonyms":["Palido-pyramidální syndrom"]},"uk":{"name":"Паркінсонічно-пірамідний синдром","synonyms":["Палідопірамідний синдром"],"definition":"Parkinsonian-pyramidal syndrome is a rare, genetic, neurological disorder characterized by the association of both parkinsonian (i.e. bradykinesia, rigidity and/or rest tremor) and pyramidal (i.e. increased reflexes, extensor plantar reflexes, pyramidal weakness or spasticity) manifestations, which vary according to the underlying associated disease (e.g. neurodegenerative disease, inborn errors of metabolism)."},"zh":{"name":"帕金森-锥体综合征","synonyms":["苍白球椎体综合征"],"definition":"帕金森病锥体综合征是一种罕见的遗传性神经系统疾病，其主要临床表现为帕金森病（i.e.运动迟缓、肌强直和（或）静止性震颤）和锥体系统损伤症状（i.e.反射增强、跖反射伸性、肌无力或痉挛），临床表现与其它潜在疾病（e.g.神经退行性疾病、先天性代谢障碍）有关。"},"tr":{"name":"Parkinson-piramidal sendrom","synonyms":["Pallidopiramidal sendrom"]}},"xrefs":[{"source":"OMIM","code":"168100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"168601","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"260300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G20","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A00.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1128311778"},{"source":"MONDO","code":"0009830","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538104","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850100","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9175","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":"FBXO7","name":"F-box protein 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19038853[PMID]","hgnc":"13586","ensembl":"ENSG00000100225","omim":"605648","loci":["22q12.3"]},{"symbol":"SNCA","name":"synuclein alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23526723[PMID]","hgnc":"11138","ensembl":"ENSG00000145335","omim":"163890","loci":["4q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-13","source":"11261505[PMID]_18513678[PMID]_942621[PMID]","terms":[{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000338","label":"Hypomimic face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031435","label":"Monotonic speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000011","label":"Neurogenic bladder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002362","label":"Shuffling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000514","label":"Slow saccadic eye movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011960","label":"Substantia nigra gliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002367","label":"Visual hallucinations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100315","label":"Lewy bodies","frequency":"Occasional (29-5%)","criteria":null}]}}