{"orpha":648919,"name":"Idiopathic catatonia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Idiopathic catatonic syndrome","Isolated catatonia","Isolated catatonic syndrome"],"definition":"A rare neurologic disease with psychiatric involvement characterized by a cluster of signs and symptoms of catatonia that is not associated with any underlying psychiatric or organic disorder or intoxication.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-648919/","orphanet_url":"https://www.orpha.net/en/disease/detail/648919","names":{"fr":{"name":"Catatonie idiopathique","synonyms":["Catatonie isolée","Syndrome catatonique idiopathique","Syndrome catatonique isolé"],"definition":"Maladie neurologique rare avec atteinte psychiatrique caractérisée par un ensemble de signes et de symptômes de catatonie non associés à un trouble psychiatrique ou organique sous-jacent ou à une intoxication."},"de":{"name":"Idiopathische Katatonie","definition":"Eine seltene neurologische Erkrankung mit psychiatrischer Beteiligung, die durch eine Reihe von Anzeichen und Symptomen der Katatonie gekennzeichnet ist, die nicht mit einer zugrunde liegenden psychiatrischen oder organischen Störung oder Intoxikation in Verbindung stehen."},"es":{"name":"Catatonía idiopática","definition":"Es una enfermedad neurológica poco frecuente con afectación psiquiátrica caracterizada por un conjunto de signos y síntomas de catatonia no asociados con ningún trastorno psiquiátrico u orgánico subyacente o intoxicación."},"it":{"name":"Catatonia idiopatica"},"nl":{"name":"Idiopathische katatonie","definition":"Een zeldzame neurologische aandoening met psychiatrische betrokkenheid, gekenmerkt door een cluster van verschijnselen en symptomen van katatonie die niet geassocieerd is met een onderliggende psychiatrische of organische aandoening of intoxicatie."},"pt":{"name":"Catatonia idiopática","definition":"Doença neurológica rara com envolvimento psiquiátrico caracterizada por um conjunto de sinais e sintomas de catatonia que não está associada a nenhum distúrbio psiquiátrico ou orgânico subjacente ou intoxicação."},"pl":{"name":"Idiopatyczna katatonia","synonyms":["Idiopathic catatonic syndrome","Isolated catatonia","Isolated catatonic syndrome"],"definition":"Rzadka choroba neurologiczna z zaburzeniami psychicznymi, charakteryzująca się zespołem objawów katatonii, które nie są powiązane z żadnym ukrytym schorzeniem psychicznym, organicznym lub zatruciem."},"cs":{"name":"Idiopatická katatonie","synonyms":["Idiopathic catatonic syndrome","Isolated catatonia","Isolated catatonic syndrome"]},"uk":{"name":"Ідіопатична кататонія","synonyms":["Ідіопатичний кататонічний синдром","Ізольована кататонія","Ізольований кататонічний синдром"],"definition":"A rare neurologic disease with psychiatric involvement characterized by a cluster of signs and symptoms of catatonia that is not associated with any underlying psychiatric or organic disorder or intoxication."}},"xrefs":[{"source":"ICD-10","code":"F20.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0957487","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816742","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98033,"name":"Rare neurologic disease with psychiatric involvement","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"26243853[PMID]_37138368[PMID]_36649557[PMID]_23051079[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"26243853[PMID]_37138368[PMID]_36649557[PMID]_23051079[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-03-04","source":"37523662[PMID]_28613592[PMID]_26243853[PMID]_17558626[PMID]_25538636[PMID]","terms":[{"hpo":"HP:0002533","label":"Abnormal posturing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007302","label":"Bipolar affective disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010529","label":"Echolalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000273","label":"Facial grimacing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410291","label":"Negativism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100753","label":"Schizophrenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002396","label":"Cogwheel rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030903","label":"Grasp reflex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025401","label":"Staring gaze","frequency":"Occasional (29-5%)","criteria":null}]}}