Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.

Also known as: PIGM-CDG, GPI deficiency, GPID, congenital disorder of glycosylation due to PIGM deficiency, glycosylphosphatidylinositol biosynthesis defect 1, glycosylphosphatidylinositol deficiency

4 clinical trials for this condition and its sub-types, 0 tagged with Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency itself.