{"Name":"Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency","DiseaseID__c":"GARD:0016635","id":16635,"encodedName":"hemolytic-anemia-due-to-pyrimidine-5-nucleotidase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency","Xref_IDs__c":"C1849507; C564859; DOID:0051007; MEDGEN:341470; MONDO:0009946; OMIM:266120; ORPHA:35120","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009946","Disease_Description__c":"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.","GARD_Name__c":"Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency","GARD_Synonym__c":"anemia, congenital, nonspherocytic hemolytic, 8; anemia, hemolytic, due to umph1 deficiency; cnsha8; hemolytic anemia due to p5n deficiency; hemolytic anemia due to umph1 deficiency; p5n deficiency; pyrimidine 5-prime nucleotidase deficiency, hemolytic anaemia due to; pyrimidine 5-prime nucleotidase deficiency, hemolytic anemia due to; umph1 deficiency; uridine 5-prime monophosphate hydrolase deficiency, hemolytic anaemia due to; uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to; uridine 5'-monophosphate hydrolase deficiency","Curated_Disease_Description_Source__c":"MONDO:0009946","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:35120","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009946","ORPHANET_ID__c":"ORPHA:35120","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anemia hemolítica por deficiencia de pirimidina 5' nucleotidasa","Spanish_Description_Source__c":"ORPHA:35120","Spanish_Description__c":"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.","Spanish_Disease_Name__c":"anemia hemolítica por deficiencia de pirimidina 5' nucleotidasa","Spanish_GARD_Synonym__c":"deficiencia de hidrolasa del monofosfato de uridina 5; deficiencia de p5n; deficiencia de umph1","Category_Linearization__c":"ORPHA:97992","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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.","Curated_Disease_Description_Source__c":"MONDO:0009946","GARD_Synonym__c":"anemia, congenital, nonspherocytic hemolytic, 8; anemia, hemolytic, due to umph1 deficiency; cnsha8; hemolytic anemia due to p5n deficiency; hemolytic anemia due to umph1 deficiency; p5n deficiency; pyrimidine 5-prime nucleotidase deficiency, hemolytic anaemia due to; pyrimidine 5-prime nucleotidase deficiency, hemolytic anemia due to; umph1 deficiency; uridine 5-prime monophosphate hydrolase deficiency, hemolytic anaemia due to; uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to; uridine 5'-monophosphate hydrolase deficiency","Name":"Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:35120"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:35120"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1849507","Source__c":"C1849507","Xref__c":"C1849507"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341470","Source__c":"C1849507","Xref__c":"MEDGEN:341470"},{"URL__c":"https://www.orpha.net/en/disease/detail/35120","Source__c":"C1849507; MONDO:0009946; ORPHA:35120","Xref__c":"ORPHA:35120"},{"URL__c":"https://www.omim.org/entry/266120","Source__c":"C1849507; MONDO:0009946; ORPHA:35120","Xref__c":"OMIM:266120"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564859","Source__c":"MONDO:0009946","Xref__c":"C564859"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0051007","Source__c":"MONDO:0009946","Xref__c":"DOID:0051007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009946","Source__c":"GARD:0016635","Xref__c":"MONDO:0009946"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NT5C3A","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:266120","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased amount of bilirubin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002904","HPO_Synonym__c":"High blood bilirubin levels","HPO_Name__c":"Hyperbilirubinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:266120","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The activity of concentration of pyrimidine 5-prime-nucleotidase (EC 3.1.3.5) in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000240","HPO_Name__c":"Reduced circulating pyrimidine 5-prime-nucleotidase activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:266120","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of anemia caused by premature destruction of red blood cells (hemolysis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001878","HPO_Synonym__c":"Haemolytic anemia; Increased hemolysis","HPO_Name__c":"Hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:266120","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001923","HPO_Synonym__c":"Increased immature red blood cells; Increased number of immature red blood cells; Increased reticulocyte count; Increased reticulocytes","HPO_Name__c":"Reticulocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:266120","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of free hemoglobin in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003641","HPO_Synonym__c":"Hemoglobin in urine","HPO_Name__c":"Hemoglobinuria","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Hematology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["anemia, congenital, nonspherocytic hemolytic, 8"," anemia, hemolytic, due to umph1 deficiency"," cnsha8"," hemolytic anemia due to p5n deficiency"," hemolytic anemia due to umph1 deficiency"," p5n deficiency"," pyrimidine 5-prime nucleotidase deficiency, hemolytic anaemia due to"," pyrimidine 5-prime nucleotidase deficiency, hemolytic anemia due to"," umph1 deficiency"," uridine 5-prime monophosphate hydrolase deficiency, hemolytic anaemia due to"," uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to"," uridine 5'-monophosphate hydrolase deficiency"]}