{"Name":"Congenital amegakaryocytic thrombocytopenia","DiseaseID__c":"GARD:0026560","id":26560,"encodedName":"congenital-amegakaryocytic-thrombocytopenia","IsDeleted":false,"Disease_Name_Full__c":"Congenital amegakaryocytic thrombocytopenia","Xref_IDs__c":"423022355; 716336002; C115207; C1327915; MEDGEN:272171; MONDO:0800451; OMIMPS:604498","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":null,"Disease_Description__c":null,"GARD_Name__c":"Congenital amegakaryocytic thrombocytopenia","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":null,"Curated_Disease_Description__c":"Amegakaryocytic Thrombocytopenia is a rare, inherited bone marrow failure syndrome (IBMFS) in young children where the bone marrow fails to produce platelets or megakaryocytes. This prohibits the blood from clotting clot if they start to bleed. Over time, the bone marrow may also cease making red blood cells and neutrophils. Mutation of the gene Amega (MPL) is the cause of the disease. Clinical manifestations including petechiae (tiny purplish, red spots of bleeding into the skin), bruising, and bleeding, usually beginning at birth or within the first year of life.\r\n\r\nAbout half of the people with IBMFS have characteristic physical findings including neurologic and cardiac anomalies. Over time, complete failure of the bone marrow to produce other blood products (aplastic anemia) also occurs in nearly half of the children. The diagnosis of this syndrome is usually made by 1 month of age. Some people are at risk for developing leukemia (cancer in the blood forming tissue of bone marrow).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0800451","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Amegakaryocytic Thrombocytopenia is a rare, inherited bone marrow failure syndrome (IBMFS) in young children where the bone marrow fails to produce platelets or megakaryocytes. This prohibits the blood from clotting clot if they start to bleed. Over time, the bone marrow may also cease making red blood cells and neutrophils. Mutation of the gene Amega (MPL) is the cause of the disease. Clinical manifestations including petechiae (tiny purplish, red spots of bleeding into the skin), bruising, and bleeding, usually beginning at birth or within the first year of life.\r\n\r\nAbout half of the people with IBMFS have characteristic physical findings including neurologic and cardiac anomalies. Over time, complete failure of the bone marrow to produce other blood products (aplastic anemia) also occurs in nearly half of the children. The diagnosis of this syndrome is usually made by 1 month of age. Some people are at risk for developing leukemia (cancer in the blood forming tissue of bone marrow).","Name":"Congenital amegakaryocytic thrombocytopenia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Inherited Bone Marrow Failure Syndrome Research Studies","Website__c":"https://www.marrowfailure.cancer.gov/"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1327915","Source__c":"C1327915","Xref__c":"C1327915"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS604498","Source__c":"MONDO:0800451","Xref__c":"OMIMPS:604498"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=272171","Source__c":"C1327915","Xref__c":"MEDGEN:272171"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0800451","Source__c":"GARD:0026560","Xref__c":"MONDO:0800451"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C115207","Source__c":"C1327915","Xref__c":"C115207"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716336002","Source__c":"C1327915","Xref__c":"716336002"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022355","Xref__c":"423022355"}],"tags":{},"synonyms":[""]}