IEMbase 0629: PIGG-related glycosylphosphatidylinositol biosynthesis defect 13
Scope
| Field | Value |
|---|---|
| IEMbase ID | 629 |
| Nosology | 18.3.00.16 |
| Gene | PIGG |
| External IDs | OMIM:616917; ORPHA:488635 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | None |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents PIGG-related glycosylphosphatidylinositol biosynthesis defect 13 / PIGG-CDG / autosomal recessive mental retardation 53 as an autosomal recessive disorder with unknown treatability and no treatment rows.
The biochemical row is notable because flow cytometry GPI markers are represented as normal in infancy/childhood. Clinical and characteristic rows include optional ataxia, optional cerebellar hypoplasia, hypotonia, epilepsy, and intellectual disability.
DisMech phenotype coverage
No exact PIGG/GPIBD13 entry was identified. PIGG appears in local Wolf-Hirschhorn syndrome content as part of a terminal 4p haploinsufficiency region, but that is not the same as biallelic PIGG-related GPI-anchor biosynthesis defect 13.
Concordance and completeness
Judgement: true local gap.
The normal GPI-marker flow-cytometry row is an important caveat for future curation because it differs from several other GPI-anchor biosynthesis disorders where decreased surface markers are part of the diagnostic signal.
Curation actions
- Curate PIGG/GPIBD13 separately from Wolf-Hirschhorn syndrome context.
- Preserve normal GPI-marker flow cytometry, epilepsy, intellectual disability, hypotonia, ataxia, and cerebellar hypoplasia prompts.