{"orpha":38874,"name":"Dihydropyrimidinuria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Dihydropyrimidinase deficiency"],"definition":"Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-38874/","orphanet_url":"https://www.orpha.net/en/disease/detail/38874","names":{"fr":{"name":"Dihydropyrimidinurie","synonyms":["Déficit en dihydropyrimidinase"],"definition":"Trouble très rare du métabolisme de la pyrimidine au tableau clinique variable, à savoir des troubles gastro-intestinaux (difficultés à s'alimenter, vomissements cycliques, reflux gastro-oesophagien, malabsorption avec atrophie villositaire), une hypotonie, une déficience intellectuelle, des convulsions et, plus rarement, un retard de croissance staturo-pondérale, une microcéphalie et un autisme. Des cas asymptomatiques ont également été rapportés. Le déficit en DPD augmente le risque de toxicité du 5-FU."},"de":{"name":"Dihydropyrimidinurie","synonyms":["Dihydropyrimidinase-Mangel"],"definition":"Dihydropyrimidinase (DPD)-Mangel ist eine sehr seltene Störung des Pyrimidinstoffwechsels mit einem variablen klinischen Erscheinungsbild, das gastrointestinale Manifestationen (Fütterungsprobleme, zyklisches Erbrechen, gastroösophagealer Reflux, Malabsorption mit Zottenatrophie), Hypotonie, intellektuelle Defizite, Krampfanfälle und seltener Wachstumsverzögerung, Gedeihstörung, Mikrozephalie und Autismus umfasst. Es werden auch asymptomatische Fälle berichtet. Ein DPD-Mangel erhöht das Risiko einer 5-FU-Toxizität."},"es":{"name":"Dihidropirimidinuria","synonyms":["Deficiencia de dihidropirimidinasa"],"definition":"El déficit de dihidropirimidinasa (DPD) es un raro trastorno del metabolismo de la pirimidina con una presentación clínica variable que incluye manifestaciones gastrointestinales (problemas en la alimentación, vómitos cíclicos, reflujo gastroesofágico, malabsorción con atrofia de las vellosidades), hipotonía, déficit intelectual, convulsiones y, menos frecuentemente, retraso en el crecimiento, retraso en el desarrollo, microcefalias y autismo. También se han descrito casos asintomáticos. El déficit de DPD aumenta el riesgo de toxicidad por 5-FU."},"it":{"name":"Diidropirimidinuria","synonyms":["Deficit di diidropirimidinasi"],"definition":"Il deficit di diidropirimidinasi (DPD) è una malattia molto rara del metabolismo della pirimidina, che comporta un quadro clinico variabile, che comprende sintomi gastrointestinali (problemi di alimentazione, vomito ciclico, reflusso gastroesofageo, malassorbimento con atrofia dei villi), ipotonia, deficit cognitivo, convulsioni e, meno frequentemente, ritardo della crescita, ritardo dello sviluppo, microcefalia e autismo. Sono stati riportati anche casi asintomatici. Il deficit di DPD aumenta il rischio di tossicità da 5-FU."},"nl":{"name":"Dihydropyrimidinurie","synonyms":["Deficiëntie van dihydropyrimidinase"],"definition":"Een zeer zeldzame aandoening van metabolisme van pyrimidine, gekenmerkt door een variabele klinische presentatie, bestaande uit onder meer gastro-intestinale manifestaties (voedingsproblemen, cyclisch braken, gastro-oesofageale reflux, malabsorptie met villusatrofie), hypotonie, intellectuele achterstand, insulten, en minder frequent groeiretardatie, niet-gedijen, microcefalie, en autisme. Er worden ook asymptomatische gevallen van deficiëntie van dihydropyrimidinase (DPD) gerapporteerd. DPD-deficiëntie verhoogt het risico op intoxicatie door 5-fluoro-uracil (5-FU)."},"pt":{"name":"Diidropirimidinúria","synonyms":["Deficiência de diidropirimidinase"]},"pl":{"name":"Dihydropirymidynuria","synonyms":["Niedobór dihydropirymidynazy"]},"cs":{"name":"Dihydropyrimidinurie","synonyms":["Deficit dihydropyrimidinázy"]},"uk":{"name":"Дигідропіримідинурія","synonyms":["Дефіцит дигідропіримідинази"],"definition":"Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity."},"zh":{"name":"二氢嘧啶尿","synonyms":["二氢嘧啶酶缺乏症"]},"tr":{"name":"Dihidropirimidinüri","synonyms":["Dihidropirimidinaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"222748","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E79.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C55.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1998720114"},{"source":"MONDO","code":"0009111","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3495551","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12347","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79193,"name":"Disorder of pyrimidine metabolism","classifications":[150,156]}],"children":[],"genes":[{"symbol":"DPYS","name":"dihydropyrimidinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"9718352[PMID]_20362666[PMID]","hgnc":"3013","ensembl":"ENSG00000147647","omim":"613326","loci":["8q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26771602[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-07-22","source":"38199782[PMID]_29054612[PMID]_20362666[PMID]","terms":[{"hpo":"HP:6000119","label":"Elevated urinary dihydrothymine level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000118","label":"Elevated urinary dihydrouracil level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000331","label":"Elevated urinary thymine level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012127","label":"Uraciluria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011473","label":"Villous atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very rare (<4-1%)","criteria":null}]}}