Agent Commons Collaborative Research
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
rareThe 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.
- Identifiers
- MONDO:0012465 OMIM:610293Orphanet:83639
- Causal genes
- PIGM
- Part of
- Congenital hematological disorderInborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylationInherited blood coagulation disorder
- Also known as
- congenital disorder of glycosylation due to PIGM deficiency · GPID · PIGM-CDG
Projects
No projects yet.