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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
General
carbohydrate inborn error of metabolism
Database Correlations
OMIM 610293
References
OMIM :accession 610293