{"orpha":70594,"name":"Dopa-responsive dystonia due to sepiapterin reductase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive sepiapterin reductase-deficient DRD","DRD due to SRD","SPR deficiency","Sepiapterin reductase deficiency"],"definition":"Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-70594/","orphanet_url":"https://www.orpha.net/en/disease/detail/70594","names":{"fr":{"name":"Dystonie dopa-sensible par déficit en sépiaptérine réductase","synonyms":["DRD autosomique récessive par déficit en sépiaptérine réductase","DRD par déficit en SPR","Déficit en SPR"],"definition":"La dystonie dopa-sensible (DRD) par déficit en sépiaptérine réductase (SRD) est un trouble neurométabolique très rare caractérisé par une dystonie avec fluctuations diurnes, une hypotonie axiale, des crises oculogyres et un retard du développement moteur et cognitif."},"de":{"name":"Dopa-responsive Dystonie durch Sepiapterin-Reduktase-Mangel","synonyms":["DRD durch SRD","SPR-Mangel","Sepiapterin-Reduktase-Defizienz","Sepiapterin-Reduktase-defiziente DRD, autosomal-rezessiv"],"definition":"Die Dopa-responsive Dystonie (DRD; siehe dort) durch Sepiapterin-Reduktase-Mangel (SRD) ist eine sehr seltene neurometabolische Erkrankung und gekennzeichnet durch tageszeitlich fluktuierende Dystonie, Stammhypotonie, okulogyre Krisen und verzögerte motorische und kognitive Entwicklung."},"es":{"name":"Distonía dopa-sensible por deficiencia de sepiapterina reductasa","synonyms":["DRD deficiente en sepiapterina reductasa autosómica recesiva","DRD por SRD","Deficiencia de SPR","Deficiencia de sepiapterina reductasa"],"definition":"La distonía sensible a dopa (DRD; ver este término) por déficit de sepiapterina-reductasa (SRD) es un trastorno neurometabólico muy raro caracterizado por distonía con fluctuaciones diurnas, hipotonía axial, crisis oculógiras y retrasos en el desarrollo motor y cognitivo."},"it":{"name":"Distonia Dopa-sensibile da deficit della sepiapterina reduttasi","synonyms":["DRD autosomica recessiva da deficit di sepiapterina reduttasi","DRD da SRD","Deficit di SPR","Deficit di sepiapterina reduttasi"],"definition":"La distonia-parkinsonismo ad esordio rapido (RDP) è un disturbo del movimento molto raro, caratterizzato da esordio improvviso del parkinsonismo e della distonia, spesso scatenati dallo stress fisico o psichico."},"nl":{"name":"Doparesponsieve dystonie als gevolg van sepiapterinereductasedeficiëntie","synonyms":["Autosomaal recessieve sepiapterinereductasedeficiënte DRD","DRD als gevolg van SRD","SPR-deficiëntie","Sepiapterinereductasedeficiëntie"],"definition":"Doparesponsieve dystonie (DRD; zie deze term) als gevolg van sepiapterinereductasedeficiëntie (SRD) is een zeer zeldzame neurometabole aandoening die wordt gekarakteriseerd door dystonie met dagelijkse fluctuaties, axiale hypotonie, oculogyre crisissen, en vertraging van de motorische en cognitieve ontwikkeling."},"pt":{"name":"Deficiência de sepiapterina redutase"},"pl":{"name":"Dystonia wrażliwa na lewodopę spowodowana niedoborem reduktazy sepiapteryny","synonyms":["Autosomalna recesywna DPD z niedoborem reduktazy sepiapteryny","DRD z powodu SRD","Niedobor reduktazy sepiapteryny","Niedobór SPR"],"definition":"Dystonia wrażliwa na lewodopę (DRD; sprawdź ten termin) spowodowana niedoborem reduktazy sepiapteryny (SRD) to bardzo rzadkie schorzenie neurometaboliczne charakteryzujące się dystonią z wahaniami dobowymi, hipotonią osiową, napadami przymusowego patrzenia z rotacją gałek ocznych (oculogyric crisis) oraz opóźnieniem rozwoju ruchowego i poznawczego."},"cs":{"name":"Dopa responzivní dystonie způsobená deficitem sepiapterin reduktázy","synonyms":["Deficit SPR","Deficit sepiapterin reduktázy","Autozomálně recesivní sepiapterin reduktáza deficientní DRD","DRD způsobená SRD"]},"uk":{"name":"Дофа-залежна дистонія, спричинена дефіцитом сепітаперінредуктази","synonyms":["Аутосомно-рецесивний дефіцит сепітаперінредуктази DRD","DRD через SRD","Дефіцит сепітаперінредуктази","Дефіцит SPR"],"definition":"Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development."},"zh":{"name":"墨喋呤还原酶缺乏所致多巴反应性肌张力障碍","synonyms":["常染色体隐性遗传性墨蝶呤还原酶缺乏型DRD"]},"tr":{"name":"Sepiapterin redüktaz eksikliğine bağlı dopaya duyarlı distoni","synonyms":["SRD nedeniyle DRD","SPR eksikliği","Sepiapterin redüktaz eksikliği","Otozomal Çekinik sepiapterin redüktaz eksikliği olan DRD"]}},"xrefs":[{"source":"OMIM","code":"612716","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G24.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C59.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1465745277"},{"source":"MONDO","code":"0012994","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562657","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268468","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10365","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":255,"name":"Dopa-responsive dystonia","classifications":[150,156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SPR","name":"sepiapterin reductase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"11257","ensembl":"ENSG00000116096","omim":"182125","loci":["2p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":43.0,"area":"Worldwide","status":"Validated","source":"22522443[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":"2017-10-05","source":"26131547[PMID]","terms":[{"hpo":"HP:0000366","label":"Abnormality of the nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","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:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002329","label":"Drowsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000338","label":"Hypomimic face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002509","label":"Limb hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010553","label":"Oculogyric crisis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005968","label":"Temperature instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100021","label":"Cerebral palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Occasional (29-5%)","criteria":null}]}}