/hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

Rare Disease

MONDO:0012465

Also Known As

PIGM-CDGGPI deficiencyGPIDcongenital disorder of glycosylation due to PIGM deficiencyglycosylphosphatidylinositol biosynthesis defect 1glycosylphosphatidylinositol deficiency

Definition

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.