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Hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome
Familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML) is characterised by moderate thrombocytopenia, abnormal platelet function and the propensity to develop myeloid malignancies, in particular AML.
- FPD/AML syndrome
- FPS/AML syndrome
- Familial platelet disorder with associated myeloid malignancy
- Familial platelet syndrome with predisposition to acute myelogenous leukemia
- Prevalence: -
- Inheritance: Autosomal dominant
- Age of onset: -
- ICD-10: D69.4
- OMIM: 601399 616216
- UMLS: C1832388
- MeSH: -
- GARD: 10352
- MedDRA: -
The prevalence is unknown but the disease has been reported in less than 20 families.
Causative mutations have been identified in the RUNX1 gene (also known as AML1 or CBFA2; chromosome 21q22.3) in most of the analysed families.
The condition is inherited as an autosomal dominant trait.