{"Name":"Adult pure red cell aplasia","DiseaseID__c":"GARD:0010898","id":10898,"encodedName":"adult-pure-red-cell-aplasia","IsDeleted":false,"Disease_Name_Full__c":"Adult pure red cell aplasia","Xref_IDs__c":"765748009; C4707560; C70548; MEDGEN:1647585; MONDO:0020338; ORPHA:98872","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":3,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0020338","Disease_Description__c":"A rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms.","GARD_Name__c":"Adult pure red cell aplasia","GARD_Synonym__c":"adult pure red-cell aplasia; primary acquired prca; primary acquired pure red cell aplasia; pure red-cell aplasia of adults","Curated_Disease_Description_Source__c":"MONDO:0020338","Curated_Disease_Description__c":"A rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:98872","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020338","ORPHANET_ID__c":"ORPHA:98872","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aplasia de glóbulos rojos pura primaria adquirida","Spanish_Description_Source__c":"ORPHA:98872","Spanish_Description__c":"Es una anemia aplásica adquirida poco frecuente caracterizada por anemia normocítica grave con recuentos normales de leucocitos y plaquetas periféricos, reticulocitopenia, niveles elevados de ferritina sérica y de saturación de la transferrina y ausencia aislada, casi completa, de eritroblastos en la médula ósea, con granulopoyesis y megacariopoyesis normales. Se presenta con signos de anemia grave (fatiga, letargia, palidez, intolerancia al ejercicio físico y disnea de esfuerzo) en ausencia de síntomas hemorrágicos.","Spanish_Disease_Name__c":"aplasia de glóbulos rojos pura primaria adquirida","Spanish_GARD_Synonym__c":"prca primaria adquirida","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":"A rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms.","Curated_Disease_Description_Source__c":"MONDO:0020338","GARD_Synonym__c":"adult pure red-cell aplasia; primary acquired prca; primary acquired pure red cell aplasia; pure red-cell aplasia of adults","Name":"Adult pure red cell aplasia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Aplastic Anemia and MDS International Foundation","Website__c":"https://www.aamds.org"},{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"}],"GARD_Disease_Tag__c":[{"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=765748009","Source__c":"C4707560; MONDO:0020338","Xref__c":"765748009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1647585","Source__c":"C4707560","Xref__c":"MEDGEN:1647585"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C70548","Source__c":"MONDO:0020338","Xref__c":"C70548"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4707560","Source__c":"C4707560","Xref__c":"C4707560"},{"URL__c":"https://www.orpha.net/en/disease/detail/98872","Source__c":"C4707560; MONDO:0020338; ORPHA:98872","Xref__c":"ORPHA:98872"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020338","Source__c":"GARD:0010898","Xref__c":"MONDO:0020338"}],"tags":{"Disease Category":["Hematology"],"Specialist":["Hematology"]},"synonyms":["adult pure red-cell aplasia"," primary acquired prca"," primary acquired pure red cell aplasia"," pure red-cell aplasia of adults"]}