IEMbase 0609: STT3B-related congenital disorder of glycosylation
Scope
| Field | Value |
|---|---|
| IEMbase ID | 609 |
| Nosology | 18.1.27.01 |
| Gene | STT3B |
| External IDs | OMIM:615597; ORPHA:370924 |
| Generated mapping | CANDIDATE; ALG12_Congenital_Disorder_of_Glycosylation.yaml |
| Candidate DisMech targets | None exact |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents STT3B-CDG as an autosomal recessive N-glycosylation disorder with unknown treatability and no treatment rows. Biochemical rows show a type I transferrin pattern: increased serum asialotransferrin and disialotransferrin, with decreased serum tetrasialotransferrin in the neonatal period.
Clinical rows emphasize neonatal-onset multisystem disease: developmental delay, hypotonia, failure to thrive, gastrointestinal dysmotility, hepatopathy, respiratory failure, seizures, microcephaly, cerebral atrophy on MRI, optic atrophy, thrombocytopenia, intellectual disability, undescended testes, hypoplastic scrotum, and broader external-genital abnormality.
DisMech phenotype coverage
ALG12_Congenital_Disorder_of_Glycosylation.yaml is a false-positive CDG-class
candidate. ALG12-CDG is an ER lipid-linked oligosaccharide assembly disorder
caused by ALG12 mannosyltransferase deficiency, whereas STT3B encodes an
oligosaccharyltransferase catalytic subunit involved in N-glycan transfer.
No exact STT3B-CDG target was identified locally.
Concordance and completeness
Judgement: true local gap; reject ALG12-CDG as exact coverage.
The generated candidate is useful only as neighboring N-glycosylation biology. IEMbase 0609 needs a distinct STT3B/oligosaccharyltransferase CDG target before phenotype import.
Curation actions
- Create or identify an exact STT3B-CDG target before import.
- Reject
ALG12_Congenital_Disorder_of_Glycosylation.yamlas an exact mapping. - Preserve transferrin type I pattern, neonatal respiratory/hepatic/coagulation, neurodevelopmental, optic-atrophy, and genital-phenotype prompts.