/thrombocytopenia 2

thrombocytopenia 2

Rare Disease

MONDO:0008555

Also Known As

thrombocytopenia 2thrombocytopenia type 2THC2thrombocytopenia autosomal dominant 2thrombocytopenia, autosomal dominant, 2

Definition

An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability.