Familial platelet syndrome with predisposition to acute myelogenous leukemia



FPD/AML syndrome;FPS/AML syndrome;Familial platelet disorder with associated myeloid malignancy;Familial platelet syndrome

Tipo de test: 

Tiempo de espera: 

35 dias

Más información

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. The prevalence is unknown but the disease has been reported in less than 20 families. The condition is inherited as an autosomal dominant trait and causative mutations have been identified in the RUNX1 gene (also known as AML1 or CBFA2; chromosome 21q22.3) in most of the analysed families.


Tomado de Orphanet


<1 / 1 000 000


Autosomal dominant