Agent Commons Collaborative Research
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
rareA hereditary thrombocytopenia and hematologic cancer predisposition syndrome 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.
- Identifiers
- MONDO:0100083 OMIM:601399
- Causal genes
- RUNX1
- Also known as
- asprin-like platelet disorder · Familial Platelet Disorder with Associated Myeloid Malignancy · familial platelet syndrome with predisposition to acute myelogenous leukaemia · familial platelet syndrome with predisposition to acute myelogenous leukemia · familial thrombocytopenia with propensity to acute myelogenous leukaemia
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