IEMbase 0345: COG8-related conserved oligomeric Golgi complex subunit 8 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 345 |
| Nosology | 19.6.06.01 |
| Gene | COG8 |
| External IDs | OMIM:611182; ORPHA:95428 |
| Generated mapping | CANDIDATE; COG1-congenital_disorder_of_glycosylation.yaml |
| Candidate DisMech targets | No exact target; COG1-CDG and CDG grouping are family context only |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents COG8-CDG/CDG-IIh, an autosomal recessive conserved oligomeric Golgi complex disorder. Characteristic rows include abnormal apolipoprotein C-III isoelectrofocusing, dwarfism, epilepsy, hyposialylation of N-glycans and O-glycans, hypotonia, axonal motor neuropathy, psychomotor delay, strabismus, increased creatine kinase, increased transaminases, factor XI, and a type II sialotransferrin pattern.
Additional clinical rows include acquired microcephaly, nonprogressive cerebellar ataxia, cerebellar and cerebral atrophy on MRI, cystic white-matter changes, acute encephalopathic crisis, finger anomalies, recurrent infections, and ventriculomegaly. Biochemical rows include asialotransferrin, disialotransferrin, monosialotransferrin, trisialotransferrin, decreased tetrasialotransferrin, hypoglycosylated apolipoprotein CIII, partial thromboplastin time, factor XI, protein C, protein S, creatine kinase, and transaminases. No treatment rows are present.
DisMech phenotype coverage
The generated COG1-CDG candidate is not an exact disease mapping. DisMech has COG1-CDG and COG7-CDG entries plus a congenital-disorders-of-glycosylation grouping with conserved oligomeric Golgi complex context, but no dedicated COG8-CDG entry.
The COG1 file is useful family context for COG-complex trafficking and type II glycosylation, but it is gene- and subunit-specific to COG1. It should not be used as coverage for a COG8 molecular diagnosis.
Concordance and completeness
Judgement: candidate rejected; COG8-CDG is a local disease gap.
The resources are mechanistically adjacent through COG-complex Golgi trafficking, abnormal N-/O-glycosylation, transferrin type II patterns, and apolipoprotein C-III abnormality. The gene, subunit, and external identifiers are different, so the generated fuzzy-alias candidate would overstate local coverage.
Curation actions
- Do not map this record to
COG1-congenital_disorder_of_glycosylation.yaml. - Create or prioritize a dedicated COG8-CDG target if this disease is curated into DisMech.
- Use IEMbase COG8-specific prompts for future curation, especially axonal motor neuropathy, acute encephalopathic crisis, cystic white-matter changes, coagulation markers, CK/transaminases, and detailed transferrin-fraction rows.