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hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description 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.
Uniprot Description Autosomal recessive trait that results in a propensity to venous thrombosis and seizures. 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.
Mondo Term and Equivalent IDs
MONDO:0012465:  hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
GARD:0009965: 
Orphanet:83639: 
SCTID:724344004: 
UMLS:C1853205: 
UMLS:C4510605: