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.
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References in periodicals archive ?
(2012) Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome.
Layton et al., "Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency," Nature Medicine, vol.

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