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.
MONDO:0009332
congenital hematological disorder
is_a
MONDO:0017748
inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
is_a
MONDO:0021181
inherited blood coagulation disorder
is_a
GPID
related
PIGM-CDG
exact
congenital disorder of glycosylation due to PIGM deficiency
related
SPBC13E7.05