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GTR Home > Conditions/Phenotypes > Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

Synonyms
Familial Platelet Disorder with Propensity to Acute Myelogenous Leukemia; Familial platelet disorder with associated myeloid malignancy; Familial thrombocytopenia with propensity to acute myelogenous leukemia; Platelet disorder, Aspirin-like

Summary

Excerpted from the GeneReview: RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies
RUNX1 familial platelet disorder with associated myeloid malignancies (RUNX1-FPDMM) is characterized by prolonged bleeding and/or easy bruising and an increased risk of developing a hematologic malignancy. RUNX1-FPDMM is characterized by thrombocytopenia with normal platelet size; bleeding is often greater than expected due to qualitative platelet dysfunction. Myeloid malignancies are the most common, including acute myelogenous leukemia (and myelodysplastic syndrome. T- and B-cell acute lymphoblastic leukemias and lymphomas have also been reported, as well as skin manifestations (e.g., eczema, psoriasis).
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Natalie Deuitch
Elizabeth Broadbridge
Lea Cunningham
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Available tests

87 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (87 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AML1, AML1-EVI-1, AMLCR1, CBF2alpha, CBFA2, EVI-1, PEBP2aB, PEBP2alpha, RUNX1
    Summary: RUNX family transcription factor 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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