{"Name":"X-linked dyserythropoietic anemia with abnormal platelets and neutropenia","DiseaseID__c":"GARD:0017574","id":17574,"encodedName":"x-linked-dyserythropoietic-anemia-with-abnormal-platelets-and-neutropenia","IsDeleted":false,"Disease_Name_Full__c":"X-linked dyserythropoetic anemia with abnormal platelets and neutropenia","Xref_IDs__c":"C3550856; DOID:0112156; MEDGEN:763770; MONDO:0010444; OMIM:300835; ORPHA:363727","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:363727","Disease_Description__c":"X-linked dyserythropoietic anemia with abnormal platelets and neutropenia is a rare, genetic, constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia, and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes.","GARD_Name__c":"X-linked dyserythropoietic anemia with abnormal platelets and neutropenia","GARD_Synonym__c":"anemia, x-linked, with or without neutropenia and/or platelet abnormalities; anemia, x-linked, with/without neutropenia and/or platelet abnormalities, x-linked recessive","Curated_Disease_Description_Source__c":"ORPHA:363727","Curated_Disease_Description__c":"X-linked dyserythropoietic anemia with abnormal platelets and neutropenia is a rare, genetic, constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia, and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:363727","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010444","ORPHANET_ID__c":"ORPHA:363727","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anemia diseritropoyética ligada al cromosoma x con plaquetas anómalas y neutropenia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"anemia diseritropoyética ligada al cromosoma x con plaquetas anómalas y neutropenia","Spanish_GARD_Synonym__c":null,"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":"X-linked dyserythropoietic anemia with abnormal platelets and neutropenia is a rare, genetic, constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia, and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes.","Curated_Disease_Description_Source__c":"ORPHA:363727","GARD_Synonym__c":"anemia, x-linked, with or without neutropenia and/or platelet abnormalities; anemia, x-linked, with/without neutropenia and/or platelet abnormalities, x-linked recessive","Name":"X-linked dyserythropoetic anemia with abnormal platelets and neutropenia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"All ages","Provided_By__c":"ORPHA:363727"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3550856","Source__c":"C3550856","Xref__c":"C3550856"},{"URL__c":"https://www.omim.org/entry/300835","Source__c":"C3550856; MONDO:0010444; ORPHA:363727","Xref__c":"OMIM:300835"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112156","Source__c":"MONDO:0010444","Xref__c":"DOID:0112156"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=763770","Source__c":"C3550856","Xref__c":"MEDGEN:763770"},{"URL__c":"https://www.orpha.net/en/disease/detail/363727","Source__c":"C3550856; MONDO:0010444","Xref__c":"ORPHA:363727"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010444","Source__c":"GARD:0017574","Xref__c":"MONDO:0010444"}],"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":"OMIM:300835","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:300835","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012135","HPO_Synonym__c":"Abnormality of cells of the granulocytic lineage","HPO_Name__c":"Abnormal granulocytopoietic cell morphology","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300835","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005528","HPO_Synonym__c":"Bone marrow failure; Bone marrow hypoplasia; Hypoplastic bone marrow; Myeloid hypoplasia","HPO_Name__c":"Bone marrow hypocellularity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300835","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001875","HPO_Synonym__c":"Low blood neutrophil count; Low neutrophil count; Neutropenia; Peripheral neutropenia","HPO_Name__c":"Decreased total neutrophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300835","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"}},{"Provided_By__c":"OMIM:300835","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003540","HPO_Synonym__c":"Defective platelet aggregation; Deficient platelet aggregation; Platelet aggregation defect","HPO_Name__c":"Impaired platelet aggregation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300835","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001972","HPO_Name__c":"Macrocytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300835","Feature__r":{"HPO_Description__c":"A reticulocyte abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004312","HPO_Synonym__c":"Abnormality of reticulocytes","HPO_Name__c":"Abnormal reticulocyte morphology","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300835","Feature__r":{"HPO_Description__c":"The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004445","HPO_Synonym__c":"Ovalocytes; Ovalocytosis","HPO_Name__c":"Elliptocytosis","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":["anemia, x-linked, with or without neutropenia and/or platelet abnormalities"," anemia, x-linked, with/without neutropenia and/or platelet abnormalities, x-linked recessive"]}