bleeding disorder, platelet-type, 21
An inherited platelet disorder caused by a variation in the FLI1 gene, an ETS-family transcription factor required for megakaryocyte maturation and formation of platelet alpha- and dense granules. Affected individuals typically exhibit mild to moderate thrombocytopenia, enlarged platelets, and characteristic defects in platelet granules, including absent or markedly reduced dense granules and enlarged or fused alpha-granules, leading to abnormal secretion and impaired aggregation responses. The clinical phenotype ranges from asymptomatic to significant mucocutaneous bleeding, menorrhagia, or perioperative bleeding.
MONDO:0000009
inherited bleeding disorder, platelet-type
is_a
MONDO:0100241
inherited thrombocytopenia
is_a
BDPLT21
related
FLI1-related thrombocytopenia
exact
bleeding disorder, platelet-type, 21
exact