IEMbase 0344: COG1-related conserved oligomeric Golgi complex subunit 1 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 344 |
| Nosology | 19.6.01.01 |
| Gene | COG1 |
| External IDs | OMIM:611209; ORPHA:263508 |
| Generated mapping | MAPPED; COG1-congenital_disorder_of_glycosylation.yaml |
| Candidate DisMech targets | COG1-congenital_disorder_of_glycosylation.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents COG1-CDG/CDG-IIg, an autosomal recessive conserved oligomeric Golgi complex disorder. Characteristic rows include abnormal apolipoprotein C-III isoelectrofocusing, hypertrophic cardiomyopathy, dwarfism, facial dysmorphism, microcephaly, psychomotor delay, transferrin hypogalactosylation, transferrin hyposialylation, and a type II sialotransferrin pattern.
Additional clinical rows include aortic insufficiency, broad nasal bridge, cerebellar and cerebral atrophy on MRI, cerebrocostomandibular-like syndrome, downslanting palpebral fissures, feeding difficulties, conductive hearing loss, hepatosplenomegaly, high palate, hypertelorism, hypotonia, large low-set or posteriorly rotated ears, long philtrum, micrognathia, microtia, small mouth, and thrombocytopenia. Biochemical rows include asialotransferrin, disialotransferrin, monosialotransferrin, trisialotransferrin, decreased tetrasialotransferrin, type II sialotransferrins, and hypoglycosylated apolipoprotein CIII. No treatment rows are present.
DisMech phenotype coverage
The generated mapping is correct. DisMech has a dedicated COG1-CDG entry with biallelic COG1 causation, conserved oligomeric Golgi complex dysfunction, disrupted Golgi trafficking and glycosylation-enzyme localization, combined N- and O-glycosylation abnormality, and autosomal recessive multisystem disease.
Local phenotype and biochemical coverage includes global developmental delay, seizures, dysmorphism, costovertebral dysplasia, Pierre-Robin sequence, failure to thrive, posterior rib gap, butterfly vertebrae, hepatitis, hypoglycemia, strabismus, type II transferrin isoform profile, combined N- and O-glycosylation defect, transferrin isoelectric focusing with confirmatory COG1 sequencing, and supportive symptomatic care.
Concordance and completeness
Judgement: correct mapped target with high concordance.
The resources agree on COG1/CDG-IIg identity, autosomal recessive COG-complex biology, abnormal N- and O-glycosylation, developmental delay, dysmorphism, failure to thrive/feeding difficulty, hypotonia, microcephaly/brain atrophy, strabismus, type II transferrin abnormality, and apolipoprotein C-III O-glycosylation abnormality.
Curation actions
- Keep the mapping to
COG1-congenital_disorder_of_glycosylation.yaml. - Consider future enrichment with hypertrophic cardiomyopathy, aortic insufficiency, conductive hearing loss, hepatosplenomegaly, microtia/ear morphology, thrombocytopenia, and granular transferrin-fraction rows after source verification.
- Treat absent IEMbase treatment rows as compatible with local supportive-care coverage.