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IEMbase 0607: DDOST-related congenital disorder of glycosylation

Scope

Field Value
IEMbase ID 607
Nosology 18.1.28.01
Gene DDOST
External IDs OMIM:614507; OMIM:602202; ORPHA:300536
Generated mapping CANDIDATE; ALG12_Congenital_Disorder_of_Glycosylation.yaml
Candidate DisMech targets None exact
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents DDOST-related congenital disorder of glycosylation, labelled DDOST-CDG and CDG-Ir. The record is autosomal recessive, classified under N-glycosylation disorders, has unknown treatability, and has no treatment rows.

Biochemical rows include increased asialotransferrin, disialotransferrin, and monosialotransferrin, decreased tetrasialotransferrin, and decreased antithrombin, factor XI, protein C, and protein S. Clinical rows include neonatal liver dysfunction, oromotor dysfunction, strabismus, developmental delay, hypotonia, failure to thrive, gastroesophageal reflux, constipation, intellectual disability, delayed myelination, ear infections, and osteopenia.

DisMech phenotype coverage

ALG12_Congenital_Disorder_of_Glycosylation.yaml is a false-positive CDG-class candidate. It models ALG12 mannosyltransferase deficiency in lipid-linked oligosaccharide assembly with type I transferrin hypoglycosylation and coagulation abnormalities. IEMbase 0607 instead concerns DDOST, an oligosaccharyltransferase subunit, with a different gene and disease identity.

The local CDG entries provide useful N-glycosylation context, but no exact DDOST-CDG / CDG-Ir target was identified.

Concordance and completeness

Judgement: true local gap; reject ALG12-CDG as exact coverage.

The candidate captures shared type I CDG/coagulation-protein logic, but gene and enzymatic complex differ. DDOST-CDG should not be imported into ALG12-CDG without source-specific support.

Curation actions

  • Create or identify an exact DDOST-CDG / CDG-Ir target before import.
  • Reject ALG12_Congenital_Disorder_of_Glycosylation.yaml as an exact mapping.
  • Preserve transferrin isoforms, antithrombin, factor XI, protein C/S, neonatal liver dysfunction, oromotor dysfunction, strabismus, reflux, constipation, delayed myelination, ear infections, osteopenia, failure to thrive, hypotonia, and neurodevelopmental prompts.