Preferred Label : Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency;
ICD-11 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.;
Origin ID : 1811042875;
Currated CISMeF NLP mapping
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.
