IEMbase 0615: COG4-related conserved oligomeric Golgi complex deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 615 |
| Nosology | 19.6.02.01 |
| Gene | COG4 |
| External IDs | OMIM:613489; ORPHA:263501 |
| Generated mapping | CANDIDATE; COG1-congenital_disorder_of_glycosylation.yaml |
| Candidate DisMech targets | None exact |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents COG4-CDG as an autosomal recessive conserved oligomeric Golgi complex disorder with unknown treatability and no treatment rows. Biochemical rows include increased ASAT/ALAT, alkaline phosphatase, transaminases, asialotransferrin, monosialotransferrin, disialotransferrin, trisialotransferrin, apolipoprotein CIII hypoglycosylation, alpha-fetoprotein, ammonia, and LDL cholesterol, with decreased tetrasialotransferrin.
Clinical rows are sparse but include cerebral atrophy on MRI, developmental delay, and intellectual disability.
DisMech phenotype coverage
COG1-congenital_disorder_of_glycosylation.yaml is a neighboring COG-complex
candidate, not exact COG4 coverage. COG1 and COG4 participate in the same
complex but represent different gene-disease entities and should remain
separate curation targets.
No exact COG4-CDG target was identified locally.
Concordance and completeness
Judgement: true local gap; reject COG1-CDG as exact coverage.
The IEMbase record is especially useful for biochemical curation because it captures both N-glycan/transferrin and apolipoprotein CIII/O-glycosylation signals plus hepatic/metabolic markers.
Curation actions
- Create or identify an exact COG4-CDG target before import.
- Reject
COG1-congenital_disorder_of_glycosylation.yamlas an exact mapping. - Preserve transferrin, apolipoprotein CIII, liver-enzyme, AFP, ammonia, LDL, cerebral-atrophy, developmental-delay, and intellectual-disability prompts.