{"orpha":419,"name":"Hyperprolinemia type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Proline oxidase deficiency"],"definition":"A rare disorder of proline metabolism characterized biochemically by markedly elevated levels of proline in plasma and urine due to deficiency of proline oxidase. The reported clinical phenotype ranges from asymptomatic to variable neurologic and psychiatric manifestations (including global developmental delay, seizures, autistic features, and hyperactivity).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-419/","orphanet_url":"https://www.orpha.net/en/disease/detail/419","names":{"fr":{"name":"Hyperprolinémie type I","synonyms":["Déficit en proline oxydase"],"definition":"Trouble rare du métabolisme de la proline caractérisé, sur le plan biochimique, par une hausse marquée du taux de proline dans le plasma et l'urine en raison d'un déficit en proline oxydase. Le phénotype clinique rapporté va de l'asymptomatique à des manifestations neurologiques et psychiatriques variables (y compris un retard global de développement, des crises convulsives, des caractéristiques du trouble du spectre de l'autisme et une hyperactivité)."},"de":{"name":"Hyperprolinämie Typ I","synonyms":["Prolinoxydase-Mangel"],"definition":"Eine seltene Störung des Prolin-Stoffwechsels, die biochemisch durch deutlich erhöhte Prolinwerte in Plasma und Urin aufgrund eines Mangels an Prolinoxidase gekennzeichnet ist. Der berichtete klinische Phänotyp reicht von asymptomatisch bis zu variablen neurologischen und psychiatrischen Manifestationen (einschließlich globaler Entwicklungsverzögerung, Krampfanfällen, autistischen Merkmalen und Hyperaktivität)."},"es":{"name":"Hiperprolinemia tipo 1","synonyms":["Deficiencia de prolina oxidasa"],"definition":"Es un trastorno poco frecuente del metabolismo de la prolina caracterizado bioquímicamente por niveles marcadamente elevados de prolina en plasma y orina debido a una deficiencia de prolina oxidasa. El fenotipo clínico descrito varía desde asintomático hasta manifestaciones neurológicas y psiquiátricas variables (incluyendo retraso global del desarrollo, crisis, rasgos del espectro autista e hiperactividad)."},"it":{"name":"Iperprolinemia tipo 1","synonyms":["Deficit di prolina ossidasi"],"definition":"Si tratta di una malattia rara del metabolismo della prolina caratterizzata, dal punto di vista biochimico, da livelli molto elevati di prolina nel plasma e nelle urine, secondari a un deficit della prolina ossidasi. I pazienti possono essere asintomatici, oppure presentano sintomi neurologici e psichiatrici variabili (ritardo dello sviluppo globale, crisi epilettiche, tratti autistici e iperattività)."},"nl":{"name":"Hyperprolinemie type 1","synonyms":["Prolineoxidasedeficiëntie"],"definition":"Een zeldzame aandoening van metabolisme van proline, biochemisch gekarakteriseerd door opmerkelijk verhoogde gehaltes van proline in plasma en urine als gevolg van deficiëntie van proline-oxidase. Klinische fenotypes die werden gerapporteerd, gaan van asymptomatisch tot variabele neurologische en psychiatrische manifestaties (waaronder algehele ontwikkelingsachterstand, insulten, autistische kenmerken, en hyperactiviteit)."},"pt":{"name":"Hiperprolinemia tipo 1","synonyms":["Deficiência de prolina oxidase"]},"pl":{"name":"Hiperprolinemia typu 1","synonyms":["Niedobór oksydazy prolinowej"]},"cs":{"name":"Hyperprolinémie, typ 1","synonyms":["Deficit prolin oxidázy"]},"uk":{"name":"Гіперпролінемія, тип 1","synonyms":["Дефіцит проліноксидази"],"definition":"A rare disorder of proline metabolism characterized biochemically by markedly elevated levels of proline in plasma and urine due to deficiency of proline oxidase. The reported clinical phenotype ranges from asymptomatic to variable neurologic and psychiatric manifestations (including global developmental delay, seizures, autistic features, and hyperactivity)."},"zh":{"name":"1型高脯氨酸血症","synonyms":["脯氨酸氧化酶缺乏"]},"tr":{"name":"Hiperprolinemi tip 1","synonyms":["Prolin oksidaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"239500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.5","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C50.8","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2006510589"},{"source":"MONDO","code":"0009400","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268529","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2847","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10058513","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":225689,"name":"Amino acid or protein metabolism disease with epilepsy","classifications":[156,181]},{"orpha":289866,"name":"Disorder of proline metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PRODH","name":"proline dehydrogenase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20524212[PMID]_23462603[PMID]","hgnc":"9453","ensembl":"ENSG00000100033","omim":"606810","loci":["22q11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008358","label":"Hyperprolinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003137","label":"Prolinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100753","label":"Schizophrenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}