IEMbase 0627: PIGW-related hyperphosphatasia with mental retardation syndrome 5
Scope
| Field | Value |
|---|---|
| IEMbase ID | 627 |
| Nosology | 18.3.00.11 |
| Gene | PIGW |
| External IDs | OMIM:616025; ORPHA:83639 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | None exact; CHIME_syndrome.yaml is a GPI-anchor pathway neighbor |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents PIGW-related hyperphosphatasia with mental retardation syndrome 5 / PIGW-CDG / HPMRS5 as an autosomal recessive disorder with unknown treatability and no treatment rows.
Biochemical rows include alkaline phosphatase ranging from normal to high across neonatal, infancy, and childhood age bands, and decreased GPI markers by flow cytometry. Clinical and characteristic rows include optional developmental delay, optional hypotonia, and epilepsy.
DisMech phenotype coverage
No exact PIGW/HPMRS5 entry was identified. CHIME_syndrome.yaml is a
neighboring GPI-anchor biosynthesis disease caused by PIGL, not PIGW. It is
useful pathway context but not an exact disease target.
Concordance and completeness
Judgement: true local gap.
The shared GPI-anchor biology explains the weak candidate, but the causal gene and named disorder are distinct.
Curation actions
- Do not map to PIGL-related CHIME syndrome.
- Curate PIGW/HPMRS5 as a separate GPI-anchor biosynthesis disorder if selected.
- Preserve alkaline phosphatase, decreased GPI-marker flow cytometry, epilepsy, hypotonia, and developmental-delay prompts.