/hereditary thrombocytopenia and hematologic cancer predisposition syndrome

/hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

Rare Disease

MONDO:0100083

Also Known As

FPD/AML syndromeFPS/AML syndromeFamilial Platelet Disorder with Associated Myeloid Malignancyfamilial platelet disorder with associated myeloid malignancyfamilial platelet syndrome with predisposition to acute myelogenous leukaemiafamilial platelet syndrome with predisposition to acute myelogenous leukemiahereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1FPDMMasprin-like platelet disorderfamilial thrombocytopenia with propensity to acute myelogenous leukaemiafamilial thrombocytopenia with propensity to acute myelogenous leukemiaplatelet disorder, aspirin-likeplatelet disorder, familial, with associated myeloid malignancythrombocytopenia, familial, with propensity to acute myelogenous leukaemiathrombocytopenia, familial, with propensity to acute myelogenous leukemia

Definition

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.

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Associated Genes

RUNX1 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:601399 ↗

GARD

GARD:15329 ↗

Related Diseases

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MONDO:0014536

Rare

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