IEMbase 0628: PIGC-related developmental disability with drug-responsive epilepsy
Scope
| Field | Value |
|---|---|
| IEMbase ID | 628 |
| Nosology | 18.3.00.03 |
| Gene | PIGC |
| External IDs | OMIM:615716; ORPHA:88616 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | None exact; IRX5-related_Craniofacial_Dysostosis_with_Osteopenia_Intellectual_Disability_and_Dental_Anomalies.yaml is a false candidate |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents PIGC-related developmental disability, severe intellectual disability, and drug-responsive epilepsy / PIGC-CDG as an autosomal recessive disorder with unknown treatability. The cached record has no treatment rows despite the drug-responsive epilepsy wording in the disease name.
Biochemical rows include decreased GPI markers by flow cytometry. Clinical and characteristic rows include ataxia, optional cerebellar atrophy, coarse facial features, hypotonia, intractable seizures, and intellectual disability.
DisMech phenotype coverage
No exact PIGC-CDG entry was identified. The IRX5-related craniofacial dysostosis candidate is a nonspecific craniofacial/intellectual-disability overlap and should be rejected as exact.
Concordance and completeness
Judgement: true local gap.
The disease-name treatment clue should be source-reviewed before importing any specific medication claim because the IEMbase cached treatment table is empty.
Curation actions
- Do not map to the IRX5-related craniofacial dysostosis candidate.
- Curate PIGC-CDG as a separate GPI-anchor biosynthesis disorder if selected.
- Preserve decreased GPI markers, intractable seizures, intellectual disability, ataxia, cerebellar atrophy, hypotonia, and facial-feature prompts.
- Source-review the drug-responsive epilepsy wording before adding treatment content.