IEMbase 0614: COG2-related conserved oligomeric Golgi complex deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 614 |
| Nosology | 19.6.14.01 |
| Gene | COG2 |
| External IDs | OMIM:606974 |
| Generated mapping | CANDIDATE; COG1-congenital_disorder_of_glycosylation.yaml |
| Candidate DisMech targets | None exact |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents COG2-CDG as an autosomal recessive conserved oligomeric Golgi complex disorder with unknown treatability and no treatment rows. Biochemical rows include increased asialotransferrin, monosialotransferrin, disialotransferrin, and trisialotransferrin, decreased tetrasialotransferrin, increased serum ceruloplasmin, and decreased serum copper.
Clinical rows include developmental delay, intellectual disability, cerebral atrophy on MRI, hepatopathy, and isolated spastic paraparesis. Characteristic rows include acquired microcephaly, coagulopathy, facial dysmorphism, pituitary dysfunction, tonic-clonic seizures, and thin corpus callosum.
DisMech phenotype coverage
COG1-congenital_disorder_of_glycosylation.yaml is a biologically adjacent but
false-positive candidate. The local file models COG1 deficiency and COG-complex
instability, not COG2 deficiency. Shared Golgi trafficking and type II CDG
biology should not collapse these genes into one disease entry.
No exact COG2-CDG target was identified locally.
Concordance and completeness
Judgement: true local gap; reject COG1-CDG as exact coverage.
COG1-CDG can inform module/conformance patterns for a future COG2 entry, but it is not the correct import target.
Curation actions
- Create or identify an exact COG2-CDG target before import.
- Reject
COG1-congenital_disorder_of_glycosylation.yamlas an exact mapping. - Preserve transferrin, copper/ceruloplasmin, coagulopathy, pituitary, thin-corpus-callosum, spasticity, seizure, hepatic, and neurodevelopmental prompts.