glycosylphosphatidylinositol deficiency

glycosylphosphatidylinositol deficiency

An autosomal recessive trait (OMIM:610293) characterised by an increased risk of venous thrombosis and seizures.
Molecular pathology
GPID is caused by a point mutation in the regulatory sequence of PIGM, which disrupts binding of the transcription factor SP1 to its cognate promoter motif.