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Up to: Inherited blood coagulation disorder · Congenital hematological disorder · Inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
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.
This condition has no sub-types.