IEMbase 0343: COG7-related conserved oligomeric Golgi complex deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 343 |
| Nosology | 19.6.05.01 |
| Gene | COG7 |
| External IDs | OMIM:608779; ORPHA:79333 |
| Generated mapping | MAPPED; COG7-Congenital_Disorder_of_Glycosylation.yaml |
| Candidate DisMech targets | COG7-Congenital_Disorder_of_Glycosylation.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents COG7-CDG/CDG-IIe. Characteristic rows include abnormal apolipoprotein C-III isoelectrofocusing, brain white-matter atrophy, failure to thrive, feeding difficulties, fever, hyporeflexia, hypotonia, psychomotor delay, transferrin glycan hypogalactosylation, and transferrin glycan hyposialylation. Additional clinical rows include adducted thumbs, decreased body height, dysplastic low-set ears, epilepsy, facial dysmorphism, finger anomalies, flat face, full lips, hepatomegaly, inverted nipples, loose or wrinkled skin, microcephaly, micrognathia, neurogenic bladder, obstructive uropathy, recurrent infections, renal tubulopathy, short neck, and ventricular septal defect.
The biochemical rows include increased creatine kinase and transaminases, asialotransferrin, disialotransferrin, monosialotransferrin, trisialotransferrin, decreased tetrasialotransferrin, type II sialotransferrins, hypoglycosylated apolipoprotein CIII, and bilirubin. No treatment rows are present.
DisMech phenotype coverage
The generated mapping is correct. DisMech has a dedicated COG7-CDG entry with biallelic COG7 causation, conserved oligomeric Golgi complex dysfunction, combined N- and O-glycosylation defects, and severe infantile multisystem disease.
Local phenotype and biochemical coverage includes abnormal glycosylation, abnormal facial shape, progressive microcephaly, hypotonia, growth delay, failure to thrive, feeding difficulties, intestinal pseudo-obstruction, ventricular septal defect, recurrent hyperthermia, cutis laxa/wrinkled skin, adducted thumbs, severe liver disease, seizures, recurrent infections, elevated hepatic transaminases, type II transferrin isoform profile, brain atrophy, fatal infantile course, hyposialylated apolipoprotein C-III isoforms, increased plasma lysosomal enzyme activities, decreased total plasma sialic acid, and supportive care.
Concordance and completeness
Judgement: correct mapped target with high concordance.
The resources agree on COG7/CDG-IIe identity, Golgi trafficking/glycosylation mechanism, neurodevelopmental impairment, hypotonia, growth/failure to thrive, feeding/GI involvement, microcephaly/brain atrophy, VSD, dysmorphism, wrinkled skin, adducted thumbs, recurrent fever/hyperthermia, infections, transaminases, type II transferrin abnormality, and apolipoprotein C-III O-glycosylation abnormality.
Curation actions
- Keep the mapping to
COG7-Congenital_Disorder_of_Glycosylation.yaml. - Consider future enrichment with IEMbase-only neurogenic bladder, obstructive uropathy, renal tubulopathy, hyporeflexia, bilirubin, CK, inverted nipples, low-set ears, and detailed transferrin-fraction rows after source verification.
- Treat absent IEMbase treatment rows as compatible with local supportive-care coverage.