{"orpha":306674,"name":"Kufor-Rakeb syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PARK9"],"definition":"Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-306674/","orphanet_url":"https://www.orpha.net/en/disease/detail/306674","names":{"fr":{"name":"Syndrome de Kufor-Rakeb","synonyms":["PARK9"],"definition":"Maladie neurodégénérative génétique rare caractérisée par un parkinsonisme juvénile, une atteinte dégénérative pyramidale (dystonie), une paralysie supranucléaire et des troubles cognitifs."},"de":{"name":"Kufor-Rakeb-Syndrom","synonyms":["PARK9"]},"es":{"name":"Síndrome de Rufor-Rakeb","synonyms":["PARK9"],"definition":"Es un trastorno neurodegenerativo de origen genético y poco frecuente caracterizado por parkinsonismo juvenil, afectación piramidal (distonía), parálisis supranuclear y deterioro cognitivo."},"it":{"name":"Sindrome di Kufor-Rakeb","synonyms":["PARK9"],"definition":"La sindrome di Kufor-Rakeb (KRS) è una malattia neurodegenerativa genetica rara, caratterizzata da parkinsonismo giovanile, degenerazione piramidale (distonia), paralisi sopranucleare e deficit cognitivo."},"nl":{"name":"Syndroom van Kufor-Rakeb","synonyms":["PARK9"],"definition":"Syndroom van Kufor-Rakeb (KRS) is een zeldzame, genetische, neurodegeneratieve stoornis die gekarakteriseerd wordt door juveniel parkinsonisme, piramidale degeneratie (dystonie), supranucleaire verlamming, en cognitieve stoornis."},"pt":{"name":"Síndrome de Kufor - Rakeb"},"pl":{"name":"Zespół Kufora i Rakeba","synonyms":["PARK9"]},"cs":{"name":"Syndrom Kufor-Rakeb","synonyms":["PARK9"]},"uk":{"name":"Синдром Куфора-Ракеба","synonyms":["PARK9"],"definition":"Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment."},"zh":{"name":"KUFOR-RAKEB综合征","synonyms":["PARK9"],"definition":"Kufor-Rakeb综合征（KRS）是一种罕见的遗传性神经退行性病变，以青少年帕金森综合征、锥体退行性变（肌张力障碍）、核上性麻痹和认知障碍为特征。"},"tr":{"name":"Kufor-Rakeb sendromu","synonyms":["PARK9"]}},"xrefs":[{"source":"OMIM","code":"606693","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G23.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011706","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537177","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1847640","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9174","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":514980,"name":"ATP13A2-related parkinsonism","classifications":[156,181]},{"orpha":385,"name":"Neurodegeneration with brain iron accumulation","classifications":[156,181]},{"orpha":98687,"name":"Supranuclear eye movement disorder","classifications":[156,189]}],"children":[],"genes":[{"symbol":"ATP13A2","name":"ATPase cation transporting 13A2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"2276817[PMID]_22166458[PMID]","hgnc":"30213","ensembl":"ENSG00000159363","omim":"610513","loci":["1p36.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"20853184[PMID]_21094623[PMID]_DOI: 10.1002/mdc3.12175[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20853184[PMID]_21094623[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-22","source":"15986421[PMID]","terms":[{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007350","label":"Hyperreflexia in upper limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000514","label":"Slow saccadic eye movements","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000605","label":"Supranuclear gaze palsy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001167","label":"Abnormality of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011446","label":"Abnormality of higher mental function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002425","label":"Anarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000338","label":"Hypomimic face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008969","label":"Leg muscle stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010553","label":"Oculogyric crisis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000183","label":"Tongue muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002367","label":"Visual hallucinations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000658","label":"Eyelid apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007083","label":"Hyperactive patellar reflex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031008","label":"Lingual dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025403","label":"Stooped posture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002493","label":"Upper motor neuron dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000511","label":"Vertical supranuclear gaze palsy","frequency":"Occasional (29-5%)","criteria":null}]}}