{"orpha":238455,"name":"Infantile dystonia-parkinsonism","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DTDS","Dopamine transporter deficiency syndrome","IPD","PKDYS"],"definition":"Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-238455/","orphanet_url":"https://www.orpha.net/en/disease/detail/238455","names":{"fr":{"name":"Dystonie-parkinsonisme infantile","synonyms":["DTDS","IPD","PKDYS","Syndrome de déficit du transporteur de la dopamine"],"definition":"La dystonie-parkinsonisme infantile (IPD) est un syndrome neurologique héréditaire extrêmement rare qui débute au cours des premiers mois de vie avec un syndrome parkinsonien hypokinétique et une dystonie potentiellement fatale."},"de":{"name":"Infantile Dystonie-Parkinsonismus","synonyms":["Dopamin-Transporterdefektsyndrom","Dystonie-Parkinsonismus-Syndrom, infantiles","IPD","PKDYS"],"definition":"Der Infantile Dystonie-Parkinsonismus (IPD) ist ein extrem seltenes, erbliches neurologisches Syndrom, das im frühen Kleinkindalter mit hypokinetischem Parkinsonismus und Dystonie einsetzt und letal verlaufen kann."},"es":{"name":"Distonía-parkinsonismo infantil","synonyms":["IPD","PKDYS"],"definition":"La distonía-parkinsonismo infantil (IPD) es un síndrome neurológico hereditario extremadamente raro que se presenta en la primera infancia con parkinsonismo hipocinético y distonía, y que puede resultar mortal."},"it":{"name":"Distonia-parkinsonismo infantile","synonyms":["IPD","PKDYS"],"definition":"La distonia-parkinsonismo infantile (IPD) è una sindrome neurologica ereditaria estremamente rara, che esordisce nella prima infanzia con parkinsonismo ipocinetico e distonia, e può essere letale."},"nl":{"name":"Infantiele dystonie-parkinsonisme","synonyms":["IPD","PKDYS"],"definition":"Infantiele dystonie-parkinsonisme is een uiterst zeldzaam erfelijk neurologisch syndroom dat zich in de vroege zuigelingentijd uit met hypokinetisch parkinsonisme en dystonie, en dat dat fataal kan zijn."},"pt":{"name":"Distonia-parkinsonismo infantil","synonyms":["IPD","PKDYS"]},"pl":{"name":"Dziecięca dystonia-parkinsonizm","synonyms":["IPD","PKDYS","Niemowlęca dystonia-parkinsonizm"],"definition":"Dziecięca dystonia-parkinsonizm (IPD) to bardzo rzadki wrodzony zespół neurologiczny, który objawia się we wczesnym dzieciństwie parkinsonizmem hipokinetycznym oraz dystonią i może być śmiertelny."},"cs":{"name":"Infantilní dystonie a parkinsonismus","synonyms":["IPD","PKDYS"]},"uk":{"name":"Інфантильна дистонія-паркінсонізм","synonyms":["Синдром дефіциту транспортера дофаміну","DTDS","IPD","PKDYS"],"definition":"Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal."},"zh":{"name":"婴儿肌张力障碍-帕金森病","synonyms":["帕金森病-张力障碍综合征"],"definition":"婴儿型肌张力障碍-帕金森综合征（IPD）是一种极为罕见的遗传性神经系统综合征，婴儿早期表现出运动功能减退的帕金森综合征和肌张力障碍，可致死。"},"tr":{"name":"İnfantil distoni-parkinsonizm","synonyms":["IPD","PKDYS"]}},"xrefs":[{"source":"OMIM","code":"613135","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619738","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G24.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A02.12","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"784965902"},{"source":"MONDO","code":"0013150","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567730","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2751067","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10484","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":391711,"name":"Persistent combined dystonia","classifications":[156,181]},{"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]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SLC6A3","name":"solute carrier family 6 member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"11049","ensembl":"ENSG00000142319","omim":"126455","loci":["5p15.33"]},{"symbol":"WARS2","name":"tryptophanyl tRNA synthetase 2, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31970218[PMID]_34890876[PMID]","hgnc":"12730","ensembl":"ENSG00000116874","omim":"604733","loci":["1p12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"24613933[PMID]_19478460[PMID]_22279524[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24613933[PMID]_19478460[PMID]_22279524[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-13","source":"19478460[PMID]_22030388[PMID]","terms":[{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004354","label":"Abnormality of carboxylic acid metabolism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100021","label":"Cerebral palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002375","label":"Hypokinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000338","label":"Hypomimic face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002509","label":"Limb hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010553","label":"Oculogyric crisis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002310","label":"Orofacial dyskinesia","frequency":"Frequent (79-30%)","criteria":null}]}}