IEMbase 0604: DPM2-related dolichol-P-mannose synthase-2 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 604 |
| Nosology | 18.4.06.02 |
| Gene | DPM2 |
| External IDs | OMIM:615042; ORPHA:329178 |
| Generated mapping | UNMAPPED; best candidate Dystroglycanopathy.yaml#DPM2-related dystroglycanopathy |
| Candidate DisMech targets | Dystroglycanopathy.yaml#DPM2-related dystroglycanopathy |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents DPM2-related dolichol-P-mannose synthase-2 deficiency, labelled DPM2-CDG. The record is autosomal recessive, classified under disorders of multiple glycosylation pathways, has unknown treatability, and has no treatment rows.
Biochemical rows include increased creatine kinase, increased transaminases, serum sialotransferrin type 1 pattern, and increased dolichol-linked Man5GlcNAc2. Clinical rows include muscular dystrophy, hypotonia, epilepsy, cerebral atrophy on MRI, microcephaly, hepatomegaly, dysmorphic features, joint contractures, scoliosis, strabismus, respiratory distress, and recurrent respiratory infections.
DisMech phenotype coverage
The generated status is a false negative because Dystroglycanopathy.yaml
explicitly includes DPM2-related dystroglycanopathy. The subtype states that
DPM2 encodes a regulatory subunit of dolichol-phosphate mannose synthase and
that variants cause CDG with secondary dystroglycanopathy, severe muscular
dystrophy, seizures, intellectual disability, and broader CDG manifestations.
That local coverage is close to the IEMbase disease identity, but it is embedded inside the dystroglycanopathy umbrella. The IEMbase record adds DPM2-CDG-specific biochemical prompts, especially the type 1 sialotransferrin pattern and dolichol-linked Man5GlcNAc2 accumulation, plus hepatomegaly, infection, and respiratory rows that may need source-level review before import.
Concordance and completeness
Judgement: resolve as subtype-level local coverage; generated mapping missed an existing DPM2 target.
The local DPM2 subtype and IEMbase record agree on gene, recessive inheritance, dolichol-phosphate-mannose pathway, CDG/dystroglycanopathy overlap, severe muscle disease, seizures, neurodevelopmental involvement, and broader systemic features. Completeness is limited by the local subtype being less granular than the IEMbase biochemical and clinical rows.
Curation actions
- Map to
Dystroglycanopathy.yaml#DPM2-related dystroglycanopathyas the current local target. - Treat DPM2-CDG as subtype-level coverage, not a new unrelated disease.
- Preserve type 1 sialotransferrin, dolichol-linked Man5GlcNAc2, creatine kinase, transaminases, hepatomegaly, respiratory distress/infections, joint contractures, scoliosis, strabismus, microcephaly, cerebral atrophy, epilepsy, hypotonia, and muscular-dystrophy prompts.