IEMbase 0336: DPM1-related GDP-Man:Dol-P mannosyltransferase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 336 |
| Nosology | 18.4.05.01 |
| Gene | DPM1 |
| External IDs | OMIM:608799; ORPHA:79322 |
| Generated mapping | UNMAPPED; weak pathway candidate Dystroglycanopathy.yaml |
| Candidate DisMech targets | Partial context in Dystroglycanopathy.yaml; no standalone DPM1-CDG target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents DPM1-CDG/CDG-Ie, an autosomal recessive DPM-pathway congenital disorder of glycosylation. Characteristic rows include hepatosplenomegaly, hypotonia, intellectual disability, nystagmus, retinal dystrophy, and strabismus. Additional clinical rows include ataxia, cerebral atrophy on MRI, dentate nucleus lesions on MRI, epilepsy, feeding difficulties, microcephaly, peripheral neuropathy, and tremor.
The biochemical rows include increased creatine kinase and transaminases, a type I sialotransferrin pattern, dolichol-linked Man5GlcNAc2, and factor XI. No treatment rows are present.
DisMech phenotype coverage
DisMech has useful but incomplete DPM1 context. Dystroglycanopathy.yaml
contains a DPM1-related dystroglycanopathy subtype and explicitly notes that
DPM1 mutations cause CDG with secondary dystroglycanopathy features; it also
places DPM1 in the alpha-dystroglycan O-mannosylation pathway. The MPDU1-CDG
entry also lists DPM1-CDG as a differential diagnosis in the shared
DPM/dolichol-phosphate-mannose space.
That context is not equivalent to a standalone DPM1-CDG disease entry. It does not fully model the DPM1-CDG identity, the CDG-Ie nosology, or the IEMbase multisystem glycosylation phenotype as its own DisMech target.
Concordance and completeness
Judgement: partial local pathway context but still a local standalone disease gap.
The generated UNMAPPED status is reasonable if "mapped" means a primary DPM1-CDG entry. The Dystroglycanopathy file should be treated as secondary mechanistic context, not as complete coverage of this IEMbase record.
Curation actions
- Add a standalone DPM1-CDG target if this IEMbase record is prioritized for full curation.
- Reuse the existing DPM1/dystroglycanopathy pathway context when modeling DPM1-CDG, but do not count it as a complete disease mapping.
- Preserve the MRI dentate-nucleus/cerebral-atrophy, ocular, peripheral neuropathy, hepatosplenic, factor XI, CK/transaminase, and Man5GlcNAc2 rows as future-curation prompts.