IEMbase 0631: PGAP3-related hyperphosphatasia with mental retardation syndrome 4
Scope
| Field | Value |
|---|---|
| IEMbase ID | 631 |
| Nosology | 18.3.00.20 |
| Gene | PGAP3 |
| External IDs | OMIM:615716; ORPHA:247262 |
| 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 PGAP3-related hyperphosphatasia with mental retardation syndrome 4 / PGAP3-CDG as an autosomal recessive disorder with unknown treatability and no treatment rows.
Biochemical rows include increased alkaline phosphatase in infancy/childhood and decreased GPI markers by flow cytometry. Clinical and characteristic rows include hypotonia, optional cleft palate, optional micrognathia, optional ataxia, epilepsy, and intellectual disability.
DisMech phenotype coverage
No exact PGAP3/HPMRS4 entry was identified. CHIME_syndrome.yaml is a
neighboring GPI-anchor biosynthesis disease caused by PIGL. It is useful
pathway context but not an exact PGAP3 disease target.
Concordance and completeness
Judgement: true local gap.
The generated CHIME candidate should be rejected as exact because it reflects shared GPI-anchor biology and neurodevelopmental overlap, not shared gene or disease identity.
Curation actions
- Do not map to PIGL-related CHIME syndrome.
- Curate PGAP3/HPMRS4 as a separate GPI-anchor maturation disorder if selected.
- Preserve alkaline phosphatase, decreased GPI-marker flow cytometry, hypotonia, epilepsy, intellectual disability, ataxia, cleft-palate, and micrognathia prompts.