Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Other Names: GPI deficiency; PIGM-CDG; Congenital disorder of glycosylation due to PIGM deficiency; Glycosylphosphatidylinositol deficiency
A syndrome with 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.
NIH genetic and rare disease info[edit source]
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency is a rare disease.
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