platelet-type bleeding disorder 17

Rare Disease

MONDO:0008553

Also Known As

BDPLT17GFI1B inherited bleeding disorder, platelet-typebleeding disorder, platelet-type 17hereditary thrombasthenia-thrombocytopeniainherited bleeding disorder, platelet-type caused by mutation in GFI1Bplatelet-type bleeding disorder 17bleeding disorder, platelet-type, 17thrombasthenia-thrombocytopenia, hereditary

Definition

An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function.