{"orpha":35120,"name":"Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["P5N deficiency","UMPH1 deficiency","Uridine 5'-monophosphate hydrolase deficiency"],"definition":"Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-35120/","orphanet_url":"https://www.orpha.net/en/disease/detail/35120","names":{"fr":{"name":"Anémie hémolytique par déficit en pyrimidine 5' nucléotidase","synonyms":["Déficit en P5N","Déficit en UMPH1","Déficit en uridine 5'-monophosphate hydrolase"],"definition":"Anémie hémolytique héréditaire rare due à une anomalie du métabolisme nucléotidique de l'érythrocyte qui se caractérise par une anémie hémolytique légère à modérée associée à des ponctuations basophiles et à l'accumulation de fortes concentrations de nucléotides pyrimidiniques dans les érythrocytes. Inconstants, les symptômes peuvent inclure un ictère, une splénomégalie, une hépatomégalie, des calculs biliaires, les patients nécessitant parfois des transfusions. De rares cas de légers retards de développement et de difficultés d'apprentissage ont été rapportés."},"de":{"name":"Hämolytische Anämie durch Pyrimidin-5'-Nukleotidase-Mangel","synonyms":["P5N-Mangel","UMPH1-Mangel","Uridine 5'-Monophosphat-Hydrolase-Mangel"]},"es":{"name":"Anemia hemolítica por deficiencia de pirimidina 5' nucleotidasa","synonyms":["Deficiencia de hidrolasa del monofosfato de uridina 5","Deficiencia de P5N","Deficiencia de UMPH1"],"definition":"Es una anemia hemolítica, hereditaria y poco frecuente, debida a un trastorno del metabolismo de nucleótidos eritrocitarios. Está caracterizada por anemia hemolítica de leve a moderada, con punteado basófilo y acúmulo de elevadas concentraciones de nucleótidos de pirimidina dentro del eritrocito. Los afectados presentan ictericia, esplenomegalia, hepatomegalia, cálculos biliares, y, en ocasiones, requieren transfusiones de forma variable Se han descrito casos excepcionales de retraso leve del desarrollo psicomotor y dificultades de aprendizaje."},"it":{"name":"Anemia emolitica da deficit di pirimidina 5' nucleotidasi","synonyms":["Deficit di P5N","Deficit di UMPH1","Deficit di uridina-5'-monofosfato idrolasi"],"definition":"L'anemia emolitica da deficit di pirimidina 5' nucleotidasi è un'anemia emolitica ereditaria rara, secondaria ad un disturbo del metabolismo dei nucleotidi eritrocitari. È caratterizzata da anemia emolitica lieve-moderata, associata a punteggiatura basofila e all'accumulo di alte concentrazioni di nucleotidi pirimidinici all'interno degli eritrociti. I pazienti presentano ittero, splenomegalia, epatomegalia, calcoli biliari e talvolta necessitano di trasfusioni. Sono stati descritti rari pazienti con lieve ritardo dello sviluppo e difficoltà di apprendimento."},"nl":{"name":"Hemolytische anemie als gevolg van pyrimidine-5'-nucleotidasedeficiëntie","synonyms":["P5N-deficiëntie","UMPH1-deficiëntie","Uridine-5'-monofosfaathydrolasedeficiëntie"],"definition":"Hemolytische anemie door pyrimidine-5'-nucleotidasedeficiëntie is een zeldzame, erfelijke hemolytische anemie als gevolg van een stoornis van het nucleotidemetabolisme in erytrocyten, en wordt gekarakteriseerd door milde tot matige hemolytische anemie geassocieerd met basofiele stippeling en accumulatie van hoge concentraties pyrimidinenucleotiden in de rode bloedcellen. Patiënten vertonen variabele kenmerken als geelzucht, splenomegalie, hepatomegalie, galstenen, en vereisen soms transfusies. Er worden ook zeldzame gevallen van milde ontwikkelingsachterstand en leerproblemen gerapporteerd."},"pt":{"name":"Anemia hemolítica devida a deficiência de pirimidina 5' nucleotidase","synonyms":["Deficiência de pirimidina 5' nucleotidase"]},"pl":{"name":"Niedokrwistość hemolityczna z powodu niedoboru 5'nukleotydazy pirymidynowej","synonyms":["Niedobór hydrolazy 5' monofosforanu urydyny","Niedobór P5N","Niedobór UMPH1"],"definition":"*Niedokrwistość hemolityczna z powodu niedoboru 5'nukleotydazy pirymidynowej jest rzadką, dziedziczną niedokrwistością hemolityczną, spowodowaną zaburzeniem metabolizmu nukleotydów erytrocytów. Charakteryzuje się łagodną lub umiarkowaną niedokrwistością hemolityczną, związaną z gromadzeniem zasadochłonnych ziarnistości wysokich stężeń nukleotydów w erytrocytach. Objawy choroby są zmienne, może wystąpić żółtaczka, powiększenie śledziony i wątroby, kamica żółciowa, czasami konieczne są transfuzje. W rzadkich przypadkach opisywano łagodne opóźnienie rozwoju i trudności w uczeniu."},"cs":{"name":"Hemolytická anémie způsobená nedostatkem pyrimidin-5-nukleotidázy","synonyms":["Deficit P5N","Deficit UMPH1","Deficit uridin-5-monofosfát hydrolázy"]},"uk":{"name":"Гемолітична анемія внаслідок дефіциту піримідин 5 нуклеотидази","synonyms":["Дефіцит P5N","Дефіцит UMPH1","Дефіцит уридин 5-монофосфатгідролази"],"definition":"Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported."},"zh":{"name":"5-核苷酸嘧啶缺乏所致溶血性贫血","synonyms":["尿苷5'-单磷酸水解酶缺乏症"]},"tr":{"name":"Pirimidin 5 'nükleotidaz eksikliğine bağlı hemolitik anemi","synonyms":["P5N eksikliği","UMPH1 eksikliği","Üridin 5'-monofosfat hidrolaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"266120","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D55.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A10.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"13365769"},{"source":"MONDO","code":"0009946","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564859","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849507","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":79193,"name":"Disorder of pyrimidine metabolism","classifications":[150,156]},{"orpha":98374,"name":"Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder","classifications":[156,194]}],"children":[],"genes":[{"symbol":"NT5C3A","name":"5'-nucleotidase, cytosolic IIIA","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11369620[PMID]_12714505[PMID]","hgnc":"17820","ensembl":"ENSG00000122643","omim":"606224","loci":["7p14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"6317231[PMID]_11369620[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"6317231[PMID]_11369620[PMID]_ORPHANET"}],"phenotypes":null}