{"Name":"Hereditary thrombocytopenia and hematologic cancer predisposition syndrome","DiseaseID__c":"GARD:0010352","id":10352,"encodedName":"hereditary-thrombocytopenia-and-hematologic-cancer-predisposition-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hereditary thrombocytopenia and hematologic cancer predisposition syndrome","Xref_IDs__c":"725034002; C162696; C563324; CN281654; MEDGEN:965797; MONDO:0011071; ORPHA:71290","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":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011071","Disease_Description__c":"The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes.","GARD_Name__c":"Hereditary thrombocytopenia and hematologic cancer predisposition syndrome","GARD_Synonym__c":"familial platelet disorder with associated myeloid malignancy; familial platelet disorder with predisposition to acute myelogenous leukemia; familial platelet disorder with predisposition to myeloid malignancy; familial platelet disorder with propensity to acute myeloid leukemia; familial thrombocytopenia with propensity to acute myelogenous leukemia; fpd/aml; fpdmm; fps/aml","Curated_Disease_Description_Source__c":"MONDO:0011071","Curated_Disease_Description__c":"The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:71290","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011071","ORPHANET_ID__c":"ORPHA:71290","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trastorno plaquetario familiar con neoplasia mieloide asociada","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"trastorno plaquetario familiar con neoplasia mieloide asociada","Spanish_GARD_Synonym__c":"tpf/lma; trastorno plaquetario familiar con predisposición a leucemia mielógena aguda; trastorno plaquetario familiar con predisposición a neoplasia mieloide; trastorno plaquetario familiar runx1; trastorno plaquetario familiar runx1 con neoplasias mieloides asociadas","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":"The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes.","Curated_Disease_Description_Source__c":"MONDO:0011071","GARD_Synonym__c":"familial platelet disorder with associated myeloid malignancy; familial platelet disorder with predisposition to acute myelogenous leukemia; familial platelet disorder with predisposition to myeloid malignancy; familial platelet disorder with propensity to acute myeloid leukemia; familial thrombocytopenia with propensity to acute myelogenous leukemia; fpd/aml; fpdmm; fps/aml","Name":"Hereditary thrombocytopenia and hematologic cancer predisposition syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The RUNX1 Research Program","Website__c":"https://www.runx1-fpd.org/"},{"Account_Name__c":"Leukaemia Foundation","Website__c":"https://www.leukaemia.org.au/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1832388"},{"Type__c":"GTR","Curie__c":"MEDGEN:C4015537"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010352","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK568319","Source__c":"Gene Review","Xref__c":"NBK568319"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK564234","Xref__c":"NBK564234"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725034002","Source__c":"MONDO:0011071","Xref__c":"725034002"},{"URL__c":"https://www.orpha.net/en/disease/detail/71290","Source__c":"CN281654; MONDO:0011071","Xref__c":"ORPHA:71290"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563324","Source__c":"MONDO:0011071","Xref__c":"C563324"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011071","Source__c":"GARD:0010352","Xref__c":"MONDO:0011071"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C162696","Source__c":"MONDO:0011071","Xref__c":"C162696"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN281654","Source__c":"CN281654","Xref__c":"CN281654"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=965797","Source__c":"CN281654","Xref__c":"MEDGEN:965797"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RUNX1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/runx1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Hematology"],"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"]},"synonyms":["familial platelet disorder with associated myeloid malignancy"," familial platelet disorder with predisposition to acute myelogenous leukemia"," familial platelet disorder with predisposition to myeloid malignancy"," familial platelet disorder with propensity to acute myeloid leukemia"," familial thrombocytopenia with propensity to acute myelogenous leukemia"," fpd/aml"," fpdmm"," fps/aml"]}