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hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

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.

Synonyms

  • FPD/AML syndrome
  • FPDMM
  • FPS/AML syndrome
  • Familial Platelet Disorder with Associated Myeloid Malignancy
  • 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
  • familial thrombocytopenia with propensity to acute myelogenous leukemia
  • hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • platelet disorder, aspirin-like
  • platelet disorder, familial, with associated myeloid malignancy
  • thrombocytopenia, familial, with propensity to acute myelogenous leukaemia
  • thrombocytopenia, familial, with propensity to acute myelogenous leukemia
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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GeneReviews

GeneReviews has an article on this condition covering diagnosis, management, and inheritance. Each article is written by one or more experts on the specific disease and is reviewed by other specialists. The article contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. The GeneReviews database is managed by the University of Washington.

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