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.
MONDO:0100241
inherited thrombocytopenia
is_a
THC2
related
thrombocytopenia 2
exact
thrombocytopenia autosomal dominant 2
related
thrombocytopenia type 2
exact