Thrombocytopenia 2

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.

Also known as: thrombocytopenia 2, thrombocytopenia type 2, THC2, thrombocytopenia autosomal dominant 2, thrombocytopenia, autosomal dominant, 2

2 clinical trials for this condition and its sub-types, 0 tagged with Thrombocytopenia 2 itself.