{"orpha":329466,"name":"Autosomal dominant focal dystonia, DYT25 type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DYT25","Dystonia 25"],"definition":"A form of focal dystonia characterized by cervical, laryngeal and hand-forearm dystonia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329466/","orphanet_url":"https://www.orpha.net/en/disease/detail/329466","names":{"fr":{"name":"Dystonie focale autosomique dominante, type DYT25","synonyms":["DYT25","Dystonie 25"],"definition":"Forme de dystonie focale caractérisée par une dystonie cervicale, laryngée et de la main et de l'avant-bras."},"de":{"name":"Dystonie, fokale, autosomal-dominante, Typ DYT25","synonyms":["DYT25","Dystonie 25"]},"es":{"name":"Distonía focal autosómica dominante tipo DYT25","synonyms":["DYT25","Distonía DYT25"],"definition":"Es una forma de distonía focal caracterizada por distonía cervical, laríngea y de la mano-antebrazo."},"it":{"name":"Distonia focale autosomica dominante, DYT25"},"nl":{"name":"Autosomaal dominante focale dystonie, DYT25-type","synonyms":["DYT25","Dystonie 25"],"definition":"Een vorm van focale dystonie, gekarakteriseerd door dystonie van cervix, larynx en hand-onderarm."},"pt":{"name":"Distonia focal autossómica dominante, tipo DYT25"},"pl":{"name":"Autosomalna dominująca dystonia ogniskowa, DYT25","synonyms":["DYT25","Dystonia 25"]},"cs":{"name":"Autozomálně dominantní izolovaná dystonie, DYT25","synonyms":["DYT25","Dystonia 25"]},"uk":{"name":"Аутосомно-домінантна фокальна дистонія, тип DYT25","synonyms":["Дистонія 25","DYT25"],"definition":"A form of focal dystonia characterized by cervical, laryngeal and hand-forearm dystonia."},"zh":{"name":"常染色体显性局灶性肌张力障碍DYT25型","synonyms":["肌张力障碍25"],"definition":"一种局灶性肌张力障碍，以颈部、喉和手前臂肌张力障碍为特征。"},"tr":{"name":"Otozomal dominant fokal distoni, DYT25 tipi","synonyms":["DYT25","Dystonia 25"]}},"xrefs":[{"source":"OMIM","code":"615073","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G24.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014033","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304670","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10667","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":1866,"name":"Focal, segmental or multifocal dystonia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GNAL","name":"G protein subunit alpha L","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23222958[PMID]","hgnc":"4388","ensembl":"ENSG00000141404","omim":"139312","loci":["18p11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":28.0,"area":"Worldwide","status":"Validated","source":"23222958[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23222958[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-09","source":"8309575[PMID]_23222958[PMID]_24952478[PMID]","terms":[{"hpo":"HP:0004373","label":"Focal dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002530","label":"Axial dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012179","label":"Craniofacial dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012049","label":"Laryngeal dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031008","label":"Lingual dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Frequent (79-30%)","criteria":null}]}}