{"orpha":30,"name":"Hereditary orotic aciduria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Orotidylic decarboxylase deficiency","Uridine monophosphate synthetase deficiency"],"definition":"A rare genetic disorder of pyrimidine metabolism characterized by early onset of megaloblastic anemia, global developmental delay, and failure to thrive, associated with massive urinary overexcretion of orotic acid (sometimes with orotic acid crystalluria). Patients without megaloblastic anemia, but with additional manifestations such as epilepsy, have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-30/","orphanet_url":"https://www.orpha.net/en/disease/detail/30","names":{"fr":{"name":"Acidurie orotique héréditaire","synonyms":["Déficit en décarboxylase orotidylique","Déficit en uridine monophosphate synthase","Oroticacidurie"],"definition":"Trouble rare du métabolisme de la pyrimidine caractérisé par l'apparition précoce d'une anémie mégaloblastique, un retard de développement global et un retard de croissance, associés à une excrétion urinaire excessive d'acide orotique (et, dans certains cas, d'une cristallurie orotique). On rapporte également les cas de patients sans anémie mégaloblastique, mais présentant d'autres symptômes, par exemple, l'épilepsie."},"de":{"name":"Orotazidurie, hereditäre","synonyms":["Orotidyl-Dekarboxylase-Mangel","Uridin-Monophosphat-Synthase-Mangel"],"definition":"Eine seltene genetische Störung des Pyrimidinstoffwechsels, die durch eine früh einsetzende megaloblastische Anämie, eine globale Entwicklungsverzögerung und Gedeihstörung gekennzeichnet ist und mit einer massiven Überausscheidung von Orotsäure im Urin einhergeht (manchmal mit Orotsäurekristallurie). Es wurde auch über Patienten ohne megaloblastische Anämie, aber mit zusätzlichen Symptomen wie Epilepsie, berichtet."},"es":{"name":"Aciduria orótica hereditaria","synonyms":["Deficiencia de orotidílico decarboxilasa","Deficiencia de uridina monofosfato sintetasa"],"definition":"Es un trastorno genético del metabolismo de pirimidinas poco frecuente caracterizado por la aparición precoz de anemia megaloblástica, retraso global del desarrollo y fallo de medro, acompañado de sobre-excreción urinaria masiva de ácido orótico (en ocasiones con cristaluria de ácido orótico). También se han descrito pacientes sin anemia megaloblástica, pero con manifestaciones adicionales como epilepsia."},"it":{"name":"Aciduria orotica ereditaria","synonyms":["Deficit di orotidilico decarbossilasi","Deficit di uridina-monofosfato sintasi","Oroticaciduria"],"definition":"Si tratta di una malattia genetica rara del metabolismo della pirimidina, caratterizzata da anemia megaloblastica ad esordio precoce, ritardo dello sviluppo globale e ritardo della crescita, associati ad un'eccessiva escrezione di acido orotico nelle urine (talvolta con cristalluria dell'acido orotico). Sono stati descritti pazienti che presentano altri sintomi, come l'epilessia, in assenza di anemia megaloblastica."},"nl":{"name":"Erfelijke orootacidurie","synonyms":["Deficiëntie van orotidyl-decarboxylase","Deficiëntie van uridinemonofosfaatsynthetase","Hereditaire orootacidurie"],"definition":"Een zeldzame, genetische aandoening van metabolisme van pyrimidine, gekarakteriseerd door vroege aanvang van megaloblastische anemie, algehele ontwikkelingsachterstand, en groeifalen, geassocieerd met massale overmatige excretie van orootzuur in urine (soms met kristalurie van orootzuur). Patiënten zonder megaloblastische anemie, maar met bijkomende manifestaties zoals epilepsie, werden ook reeds gerapporteerd."},"pt":{"name":"Acidúria orótica hereditária","synonyms":["Acidúria orótica","Deficiência de descarboxilase orotidílica","Deficiência de uridina monofosfato sintetase"]},"pl":{"name":"Dziedziczna kwasica orotowa","synonyms":["Kwasica orotowa","Niedobór dekarboksylazy orotydyny","Niedobór syntetazy monofosforanu urydyny"]},"cs":{"name":"Dědičná orotová acidurie","synonyms":["Orotová acidurie"]},"uk":{"name":"Спадкова оротова ацидурія","synonyms":["Дефіцит оротидилдекарбоксилази","Дефіцит уридинмонофосфатсинтетази"],"definition":"A rare genetic disorder of pyrimidine metabolism characterized by early onset of megaloblastic anemia, global developmental delay, and failure to thrive, associated with massive urinary overexcretion of orotic acid (sometimes with orotic acid crystalluria). Patients without megaloblastic anemia, but with additional manifestations such as epilepsy, have also been reported."},"zh":{"name":"遗传性乳清酸尿症","synonyms":["尿苷一磷酸合成酶缺乏症"]},"tr":{"name":"Kalıtsal orotik asidüri","synonyms":["Orotidilik dekarboksilaz eksikliği","Üridin monofosfat sentetaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"258900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E79.8","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"3A03.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"449856959"},{"source":"MONDO","code":"0009797","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"9797","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537136","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220987","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5429","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10052621","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]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":98415,"name":"Vitamin B12- and folate-independent constitutional megaloblastic anemia","classifications":[156,194]}],"children":[],"genes":[{"symbol":"UMPS","name":"uridine monophosphate synthetase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"9042911[PMID]_19562503[PMID]","hgnc":"12563","ensembl":"ENSG00000114491","omim":"613891","loci":["3q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"25757096[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25757096[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003355","label":"Aminoaciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003526","label":"Orotic acid crystalluria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003218","label":"Oroticaciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011840","label":"Abnormality of T cell physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null}]}}