IEMbase 0328: DPAGT1-related UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 328 |
| Nosology | 18.1.03.01 |
| Gene | DPAGT1 |
| External IDs | OMIM:608093; ORPHA:86309 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | No valid local DPAGT1-CDG target; Congenital_Myasthenic_Syndrome.yaml is partial secondary context |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents DPAGT1-CDG/CDG-Ij. Characteristic rows include high-arched palate, cataract, contractures, psychomotor retardation, and strabismus. Additional clinical rows include congenital myasthenic syndrome, dysmorphism, type 2 fiber tubular aggregates on muscle EM, epilepsy, exotropia, fatal outcome, feeding difficulties, fetal hypokinesia phenotype, hypertonia, hypotonia, intellectual disability, microcephaly, micrognathia, and nystagmus.
The biochemical rows include normal-to-increased creatine kinase and transaminase, normal-to-increased asialotransferrin and disialotransferrin, low-to-normal fibroblast lipid-linked Man9GlcNAc2, possible type 1 sialotransferrin pattern, low-to-normal tetrasialotransferrin, and decreased antithrombin III. No treatment rows are present.
DisMech phenotype coverage
DisMech has meaningful but incomplete context in Congenital_Myasthenic_Syndrome.yaml.
That entry includes DPAGT1 as a causal glycosylation-related CMS gene and
describes the N-linked glycosylation branch with tubular aggregates, elevated
CK, limb-girdle CMS, and neuromuscular-junction glycoprotein glycosylation
defects.
That coverage is not equivalent to a DPAGT1-CDG disease entry. IEMbase frames DPAGT1 as a CDG-Ij disorder with systemic CDG features, fetal hypokinesia, microcephaly, cataract/strabismus, abnormal transferrin, lipid-linked Man9GlcNAc2, and antithrombin III abnormalities. The local CMS file captures the neuromuscular branch but not the multisystem CDG biochemical entity.
Concordance and completeness
Judgement: partial local neuromuscular context, but canonical DPAGT1-CDG remains a local disease gap.
The generated UNMAPPED status is understandable because there is no dedicated DPAGT1-CDG file. Manual curation should avoid collapsing DPAGT1-CDG into the CMS umbrella: the IEMbase record combines CMS with broader congenital glycosylation disease.
Curation actions
- Add a standalone DPAGT1-CDG target before treating this record as fully mapped.
- Preserve
Congenital_Myasthenic_Syndrome.yamlas secondary context for the CMS/tubular-aggregate/CK branch. - Carry forward fetal hypokinesia, cataract/strabismus, microcephaly, Man9GlcNAc2, type I transferrin, and antithrombin III rows for future DPAGT1-CDG curation.