{"Name":"Thrombocytopenia with congenital dyserythropoietic anemia","DiseaseID__c":"GARD:0016676","id":16676,"encodedName":"thrombocytopenia-with-congenital-dyserythropoietic-anemia","IsDeleted":false,"Disease_Name_Full__c":"Thrombocytopenia with congenital dyserythropoietic anemia","Xref_IDs__c":"722475006; C4302508; MEDGEN:928177; MONDO:0019031; ORPHA:67044","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019031","Disease_Description__c":"Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.","GARD_Name__c":"Thrombocytopenia with congenital dyserythropoietic anemia","GARD_Synonym__c":"congenital dyserythropoietic anaemia with thombocytopenia; congenital dyserythropoietic anemia with thombocytopenia; x-linked congenital dyserythropoietic anaemia with thrombocytopenia; x-linked congenital dyserythropoietic anemia with thrombocytopenia; xdat","Curated_Disease_Description_Source__c":"ORPHA:67044","Curated_Disease_Description__c":"Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:67044","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019031","ORPHANET_ID__c":"ORPHA:67044","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trombocitopenia con anemia diseritropoyética congénita","Spanish_Description_Source__c":"ORPHA:67044","Spanish_Description__c":"La trombocitopenia con anemia diseritropoyética congénita (ADC; ver este término) es un trastorno hematológico raro que se ha observado casi exclusivamente en varones, caracterizado por trombocitopenia de moderada a grave y hemorragias con o sin la presencia de anemia de leve a grave.","Spanish_Disease_Name__c":"trombocitopenia con anemia diseritropoyética congénita","Spanish_GARD_Synonym__c":"anemia diseritropoyética congénita con trombocitopenia; anemia diseritropoyética congénita ligada al cromosoma x con trombocitopenia; xdat","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":"Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.","Curated_Disease_Description_Source__c":"ORPHA:67044","GARD_Synonym__c":"congenital dyserythropoietic anaemia with thombocytopenia; congenital dyserythropoietic anemia with thombocytopenia; x-linked congenital dyserythropoietic anaemia with thrombocytopenia; x-linked congenital dyserythropoietic anemia with thrombocytopenia; xdat","Name":"Thrombocytopenia with congenital dyserythropoietic anemia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Platelet Disorder Support Association","Website__c":"https://www.pdsa.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:67044"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:67044"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1364","Source__c":"Gene Review","Xref__c":"NBK1364"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4302508","Source__c":"C4302508","Xref__c":"C4302508"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722475006","Source__c":"C4302508; MONDO:0019031","Xref__c":"722475006"},{"URL__c":"https://www.orpha.net/en/disease/detail/67044","Source__c":"C4302508; MONDO:0019031; ORPHA:67044","Xref__c":"ORPHA:67044"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=928177","Source__c":"C4302508","Xref__c":"MEDGEN:928177"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019031","Source__c":"GARD:0016676","Xref__c":"MONDO:0019031"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GATA1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gata1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:67044","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of abnormally shaped erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004447","HPO_Name__c":"Poikilocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67044","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001931","HPO_Synonym__c":"Hypochromic anemia","HPO_Name__c":"Hypochromic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67044","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040185","HPO_Synonym__c":"Macrothrombozytopenia","HPO_Name__c":"Macrothrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67044","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67044","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012143","HPO_Synonym__c":"Abnormality of cells of the megakaryocyte lineage","HPO_Name__c":"Abnormal megakaryocyte morphology","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67044","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012145","HPO_Name__c":"Abnormality of multiple cell lineages in the bone marrow","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67044","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045040","HPO_Synonym__c":"Abnormal circulating LDH concentration; Abnormal lactate dehydrogenase level; Abnormal LDH level; AbnormalLDH level","HPO_Name__c":"Abnormal circulating lactate dehydrogenase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:67044","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A kind of anemia characterized by inadequate production of erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010972","HPO_Synonym__c":"Anemia, dyserythropoietic; Defective erythropoiesis; Dyserythropoietic anemia; Ineffective erythropoiesis","HPO_Name__c":"Anemia of inadequate production","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67044","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased variability in the size of erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011273","HPO_Synonym__c":"Unequal size of red blood cells","HPO_Name__c":"Anisocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["congenital dyserythropoietic anaemia with thombocytopenia"," congenital dyserythropoietic anemia with thombocytopenia"," x-linked congenital dyserythropoietic anaemia with thrombocytopenia"," x-linked congenital dyserythropoietic anemia with thrombocytopenia"," xdat"]}