{"orpha":352649,"name":"Brain dopamine-serotonin vesicular transport disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352649/","orphanet_url":"https://www.orpha.net/en/disease/detail/352649","names":{"fr":{"name":"Déficit du transport vésiculaire cérébral de la dopamine et de la sérotonine","definition":"Le déficit du transport vésiculaire cérébral de la dopamine et de la sérotonine est une maladie neurométabolique découverte récemment et débutant au cours de l'enfance. Elle est caractérisée par une dystonie, un syndrome parkinsonien, une incapacité à marcher, un dysfonctionnement autonome, un retard de développement et des troubles de l'humeur."},"de":{"name":"Störung des zerebralen vesikulären Dopamin-Serotonin-Transportes","definition":"Der Defekt des zerebralen vesikulären Dopamin-Serotonin-Transportes ist eine kürzlich erkannte neurometabolische Erkrankung mit Beginn im Kleinkindalter. Charakteristisch sind Dystonie, Parkinsonismus, Unfähigkeit zu gehen, vegetative Funktionsstörungen, verzögerte Entwicklung und Stimmungsschwankungen."},"es":{"name":"Enfermedad del transporte vesicular cerebral de dopamina-serotonina","definition":"Es una enfermedad neurometabólica de inicio en la lactancia, caracterizada por distonía, parkinsonismo, incapacidad para caminar, disfunción autonómica, retraso en el desarrollo y trastornos anímicos."},"it":{"name":"Malattia del trasporto vescicolare cerebrale della dopamina e della serotonina","definition":"La malattia del trasporto vescicolare cerebrale della dopamina e della serotonina è una patologia neurometabolica, scoperta recentemente, ad esordio neonatale, caratterizzata da distonia, parkinsonismo, disfunzione del sistema autonomo, ritardo dello sviluppo e disturbi dell'umore."},"nl":{"name":"Defect van vesiculair transport van dopamine en serotonine in hersenen","definition":"Een zeldzame neurometabole ziekte met infantiele aanvang, gekarakteriseerd door dystonie, parkinsonisme, onvermogen om te lopen, autonome disfunctie, ontwikkelingsachterstand en stemmingsstoornissen."},"pt":{"name":"Doença cerebral do transporte vesicular de dopamina - serotonina"},"pl":{"name":"Choroba pęcherzykowego transportu dopaminy-serotoniny w mózgu"},"cs":{"name":"Porucha vezikulárního transportu dopamin-serotonin v mozku"},"uk":{"name":"Везикулярна хвороба дофамін-серотонінового транспорту мозку","definition":"A rare infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances."},"zh":{"name":"脑多巴胺-血清素囊泡转运病","definition":"本病是一种罕见的婴儿起病的神经代谢疾病，以肌张力障碍、帕金森症、行动不便、自主神经功能障碍、发育迟缓和情绪障碍为特征。"},"tr":{"name":"Beyin dopamin-serotonin veziküler taşıma hastalığı"}},"xrefs":[{"source":"OMIM","code":"618049","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G25.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C59.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018130","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303546","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13594","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79169,"name":"Disorder of neurotransmitter metabolism and transport","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":391711,"name":"Persistent combined dystonia","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SLC18A2","name":"solute carrier family 18 member A2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23363473[PMID]","hgnc":"10935","ensembl":"ENSG00000165646","omim":"193001","loci":["10q25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"23363473[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-02-16","source":"23363473[PMID]","terms":[{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011443","label":"Abnormality of coordination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002597","label":"Abnormality of the vasculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000338","label":"Hypomimic face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030215","label":"Inappropriate crying","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010553","label":"Oculogyric crisis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002310","label":"Orofacial dyskinesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005484","label":"Secondary microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002362","label":"Shuffling gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010307","label":"Stridor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Very frequent (99-80%)","criteria":null}]}}