{"Name":"Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1","DiseaseID__c":"GARD:0015329","id":15329,"encodedName":"hereditary-thrombocytopenia-and-hematological-cancer-predisposition-syndrome-associated-with-runx1","IsDeleted":false,"Disease_Name_Full__c":"Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1","Xref_IDs__c":"C151903; C162696; C1832388; MEDGEN:321945; MONDO:0100083","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":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":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0100083","Disease_Description__c":"This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL.","GARD_Name__c":"Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1","GARD_Synonym__c":"familial platelet disorder with propensity to acute myelogenous leukemia; familial platelet syndrome with predisposition to acute myelogenous leukaemia; familial platelet syndrome with predisposition to acute myelogenous leukemia; fpd/aml syndrome; fps/aml syndrome; platelet disorder, aspirin-like","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Familial platelet disorder with associated myeloid malignancy (FPDMM) is a condition that can cause prolonged bleeding and easy bruising. It may also cause an increased risk of developing cancer of the blood. People with this disorder often have thrombocytopenia which can lead to abnormal bleeding. Thrombocytopenia is a low number of platelet cells. The most common type of blood cancer associated with this condition is acute myelogenous leukemia. But, other types of blood cancers can also occur. These other cancers include myelodysplastic syndrome, T- and B-cell lymphoblastic leukemias, and lymphomas. Some people also experience skin-related symptoms like eczema or psoriasis. FPDMM is caused by mutations in the RUNX1 gene. It is inherited in an autosomal dominant pattern. This means a single copy of the mutated gene is sufficient to cause the disorder.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:601399","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0100083","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":"Familial platelet disorder with associated myeloid malignancy (FPDMM) is a condition that can cause prolonged bleeding and easy bruising. It may also cause an increased risk of developing cancer of the blood. People with this disorder often have thrombocytopenia which can lead to abnormal bleeding. Thrombocytopenia is a low number of platelet cells. The most common type of blood cancer associated with this condition is acute myelogenous leukemia. But, other types of blood cancers can also occur. These other cancers include myelodysplastic syndrome, T- and B-cell lymphoblastic leukemias, and lymphomas. Some people also experience skin-related symptoms like eczema or psoriasis. FPDMM is caused by mutations in the RUNX1 gene. It is inherited in an autosomal dominant pattern. This means a single copy of the mutated gene is sufficient to cause the disorder.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"familial platelet disorder with propensity to acute myelogenous leukemia; familial platelet syndrome with predisposition to acute myelogenous leukaemia; familial platelet syndrome with predisposition to acute myelogenous leukemia; fpd/aml syndrome; fps/aml syndrome; platelet disorder, aspirin-like","Name":"Hereditary thrombocytopenia and hematological cancer predisposition syndrome ass","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The RUNX1 Research Program","Website__c":"https://www.runx1-fpd.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK568319","Source__c":"Gene Review","Xref__c":"NBK568319"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832388","Source__c":"C1832388","Xref__c":"C1832388"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=321945","Source__c":"C1832388","Xref__c":"MEDGEN:321945"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100083","Source__c":"GARD:0015329","Xref__c":"MONDO:0100083"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C162696","Source__c":"C1832388","Xref__c":"C162696"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725034002","Source__c":"C1832388","Xref__c":"725034002"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C151903","Source__c":"MONDO:0100083","Xref__c":"C151903"}],"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}],"tags":{},"synonyms":["familial platelet disorder with propensity to acute myelogenous leukemia"," familial platelet syndrome with predisposition to acute myelogenous leukaemia"," familial platelet syndrome with predisposition to acute myelogenous leukemia"," fpd/aml syndrome"," fps/aml syndrome"," platelet disorder, aspirin-like"]}