hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Findings
No curated finding names hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0012465), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Generalized non-motor (absence) seizureHPOHP:0002121
- 2 of 3 reported patients
- HepatomegalyHPOHP:0002240
- 2 of 3 reported patients
- Portal hypertensionHPOHP:0001409
- 2 of 3 reported patients
- Portal vein thrombosisHPOHP:0030242
- 2 of 3 reported patients
- SplenomegalyHPOHP:0001744
- 2 of 3 reported patients
- Atonic seizureHPOHP:0010819
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PIGMHGNC:18858
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
- Limited · G2P · Autosomal recessive · 2025
- PIGWHGNC:23213
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
- Also called
- PIGM-CDG