IEMbase 0361: PIGM-related glycosylphosphatidylinositol deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 361 |
| Nosology | 18.3.00.12 |
| Gene | PIGM |
| External IDs | OMIM:610293; ORPHA:83639 |
| Generated mapping | UNMAPPED; low candidate MHC_Class_II_Deficiency.yaml |
| Candidate DisMech targets | No exact local target identified |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents PIGM-CDG/glycosylphosphatidylinositol deficiency, an autosomal recessive phosphatidylinositolglycan class M disorder. Characteristic rows include absence seizures, hepatic vein thrombosis, and portal vein thrombosis.
Additional clinical rows include developmental delay, prominent skin veins, and cerebral thrombosis. The biochemical row is flow cytometry of GPI markers. IEMbase lists sodium phenylbutyrate as a treatment.
DisMech phenotype coverage
The low MHC class II deficiency candidate is a false neighbor and should be rejected. Local MHC class II deficiency is an immune transcription/antigen presentation disorder involving CIITA/RFX genes; it does not cover PIGM, GPI anchor biosynthesis, thrombosis, or GPI-marker flow cytometry.
No exact PIGM-CDG DisMech disease file was identified. Any local inherited GPI deficiency family context would be pathway context only and should not be used as a disease-level mapping unless it explicitly covers PIGM.
Concordance and completeness
Judgement: true local gap; reject the generated MHC class II deficiency candidate.
IEMbase supplies a distinctive PIGM-CDG signal: PIGM identity, autosomal recessive inheritance, absence seizures, developmental delay, venous thromboses in hepatic, portal, and cerebral sites, prominent skin veins, diagnostic flow-cytometry GPI marker testing, and sodium phenylbutyrate treatment.
Curation actions
- Do not map this record to
MHC_Class_II_Deficiency.yaml. - Create or prioritize a future PIGM-CDG/GPI anchor biosynthesis target if this disease enters active DisMech curation.
- Treat sodium phenylbutyrate, thrombosis, prominent skin veins, and flow-cytometry GPI markers as high-value enrichment prompts for future source-backed curation.