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hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description 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.
Uniprot Description Autosomal dominant disease characterized by qualitative and quantitative platelet defects, and propensity to develop acute myelogenous leukemia.
Mondo Term and Equivalent IDs
MONDO:0100083: hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:601399
MONDO:0100083
High level summary of knowledge for a disease, including descriptions and datasource references.