Disease association ontology term - MONDO:0012465 - hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Term summary
- ID
- MONDO:0012465
- Name
- hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
- Ontology or CV name
- Disease association
- 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.
