glycosylphosphatidylinositol deficiency

Pathology

• deficiency is due to a point mutation in the regulatory sequences of PIGM that disrupts binding of the transcription factor SP1 to its cognate promoter motif, leading to a strong reduction of expression

Genetics

• autosomal recessive
• associated with defects in PIGM gene

Clinical manifestations

• propensity to venous thrombosis & seizures

More general terms

• carbohydrate inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/610293