IEMbase 0630: PGAP1-related GPI deacylase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 630 |
| Nosology | 18.3.00.19 |
| Gene | PGAP1 |
| External IDs | OMIM:615802; ORPHA:88616 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | None |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents PGAP1-related GPI deacylase deficiency / PGAP1-CDG / autosomal recessive mental retardation 42 as an autosomal recessive disorder with unknown treatability and no treatment rows.
The cached record has no biochemical rows. Clinical and characteristic rows focus on early neurodevelopmental disease: abnormal hand morphology, optional apnea, brain atrophy on MRI, delayed myelination, hypotonia, movement disorder, high arched eyebrows, large mouth, prominent forehead, short neck, epilepsy, facial dysmorphism, and intellectual disability.
DisMech phenotype coverage
No exact PGAP1-related GPI deacylase deficiency entry was identified. PGAP1 appears in local chromosome 2q32-q33 deletion syndrome content as one gene within a larger deleted interval, but that chromosomal-deletion context is not the same as biallelic PGAP1-related impaired GPI-anchor maturation.
Concordance and completeness
Judgement: true local gap.
This record belongs with the neighboring GPI-anchor biosynthesis/maturation defects but needs its own disease or subtype-level anchor because the causal gene, proximal GPI deacylase step, and phenotype pattern are distinct.
Curation actions
- Curate PGAP1-related GPI deacylase deficiency separately from chromosome 2q32-q33 deletion syndrome.
- Preserve neurodevelopmental, epilepsy, MRI brain atrophy, delayed myelination, hypotonia, movement-disorder, apnea, hand, and facial-feature prompts during source review.