IEMbase 0386: PIGY-related Phosphatidylinositolglycan, class V, deficiency (CDG)
Scope
| Field | Value |
|---|---|
| IEMbase ID | 386 |
| Nosology | 18.3.00.25 |
| Gene | PIGY |
| External IDs | OMIM:239300; ORPHA:247262 |
| Generated mapping | UNMAPPED; low candidate CHIME_syndrome.yaml |
| Candidate DisMech targets | No exact local target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive PIGY-related phosphatidylinositolglycan, class V, deficiency, also listed as PIGY-CDG and hyperphosphatasia-mental retardation syndrome 1.
Clinical rows include brachytelephalangy, epilepsy, intellectual disability, and large fleshy earlobes. The biochemical signal is increased plasma alkaline phosphatase. There are no treatment rows.
DisMech phenotype coverage
There is no exact local DisMech target for PIGY-related GPI-anchor deficiency.
The generated candidate CHIME_syndrome.yaml is a pathway-neighbor false
positive: local CHIME syndrome is PIGL-related and models colobomas, heart
defects, ichthyosiform dermatosis, intellectual disability, and ear anomalies
from a different GPI-anchor biosynthesis gene.
CHIME syndrome may provide general GPI-anchor deficiency context, but it should not be used as a disease-level mapping for PIGY-CDG or the hyperphosphatasia/intellectual-disability phenotype represented here.
Concordance and completeness
Judgement: true PIGY local gap; reject the CHIME/PIGL candidate.
The IEMbase and candidate files share broad GPI-anchor biology and partial neurodevelopmental overlap, but the causal gene, named syndrome, and core clinical/biochemical signals differ.
Curation actions
- Keep this record unmapped until a PIGY-CDG/GPI-anchor deficiency target exists.
- Do not map to
CHIME_syndrome.yaml. - If curated, include intellectual disability, epilepsy, brachytelephalangy, large fleshy earlobes, and elevated alkaline phosphatase as review prompts.