{"orpha":306734,"name":"Primary dystonia, DYT21 type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DYT21"],"definition":"Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-306734/","orphanet_url":"https://www.orpha.net/en/disease/detail/306734","names":{"fr":{"name":"Dystonie primaire type DYT21","synonyms":["DYT21"],"definition":"Sous-type de dystonie mixte caractérisé par une forme de dystonie de torsion à apparition tardive."},"de":{"name":"Dystonie, primäre, Typ DYT21","synonyms":["DYT21"]},"es":{"name":"Distonía primaria tipo DYT21","definition":"Es un subtipo de distonía mixta con una forma de distonía de torsión pura de inicio tardío."},"it":{"name":"Distonia primitiva, tipo DYT21","synonyms":["DYT21"]},"nl":{"name":"Primaire dystonie, DYT21-type","synonyms":["DYT21"],"definition":"Primaire dystonie, DYT21-type is een subtype van gemengde dystonie met een laat aanvangende vorm van torsiedystonie."},"pt":{"name":"Distonia primária, tipo DYT21"},"pl":{"name":"Dystonia pierwotna, typ DYT21","synonyms":["DYT21"]},"cs":{"name":"Primární dystonie, typ DYT21","synonyms":["DYT21"]},"uk":{"name":"Первинна дистонія, тип DYT21","synonyms":["DYT21"],"definition":"Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia."},"zh":{"name":"原发性肌张力障碍DYT21型","synonyms":["DYT21型"],"definition":"DYT21型原发性肌张力障碍是混合性肌张力障碍的一个亚型，晚发型单纯扭转性肌张力障碍。"},"tr":{"name":"Primer distoni, DYT21 tipi","synonyms":["DYT21"]}},"xrefs":[{"source":"OMIM","code":"614588","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G24.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013813","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3281236","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":376724,"name":"Generalized isolated dystonia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DYT21","name":"dystonia 21, torsion (autosomal dominant)","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21301909[PMID]","hgnc":"39436","ensembl":null,"omim":null,"loci":["2q14.3-q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"21301909[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21301909[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-09","source":"21301909[PMID]_3400518[PMID]","terms":[{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004373","label":"Focal dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007325","label":"Generalized dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002268","label":"Paroxysmal dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002530","label":"Axial dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012049","label":"Laryngeal dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Occasional (29-5%)","criteria":null}]}}