Catalog

Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

No MMS code

Link to WHO Definition

Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency – http://id.who.int/icd/entity/1811042875

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.