Disease that is characterised by moderate thrombocytopenia, abnormal platelet function and the propensity to develop myeloid malignancies, in particular acute myelogenous leukaemia. 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.
Sequence
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
Status
Designation Type
PHIN Preferred Term Flag
Code Flag
3437136012
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Active
Synonym
false
false
3437137015
Familial platelet syndrome with predisposition to acute myelogenous leukaemia
Active
Synonym
false
false
3437138013
Familial platelet disorder with associated myeloid malignancy