IEMbase 0334: TUSC3-related oligosaccharyltransferase subunit deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 334 |
| Nosology | 18.1.16.01 |
| Gene | TUSC3 |
| External IDs | OMIM:611093 |
| Generated mapping | UNMAPPED; low-score candidate Growth_Hormone_Insensitivity_Syndrome.yaml |
| Candidate DisMech targets | Reject Growth_Hormone_Insensitivity_Syndrome.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents TUSC3-CDG, an autosomal recessive congenital disorder of glycosylation involving an oligosaccharyltransferase subunit. The characteristic rows are psychomotor delay, facial dysmorphism, and short stature. Additional clinical rows include camptodactyly, deeply set eyes, hypertelorism, long face, pointed chin, and syndactyly.
The only biochemical row is serum sialotransferrins, recorded as not abnormal across the life stages in the cached JSON. No treatment rows are present.
DisMech phenotype coverage
The generated growth-hormone-insensitivity candidate is a lexical and phenotype neighbor, not a valid disease mapping. That DisMech entry models GH-IGF1 axis defects with short stature, IGF-1 abnormalities, and GH/IGF pathway genes. It does not include TUSC3, oligosaccharyltransferase dysfunction, or the CDG nosology represented by this IEMbase record.
Local CDG module and grouping files provide broad glycosylation context, but no standalone TUSC3-CDG entry exists.
Concordance and completeness
Judgement: true local disease gap; reject the GHIS candidate.
The only real overlap with GHIS is short stature. The IEMbase record points to TUSC3-related protein glycosylation disease with neurodevelopmental and dysmorphic features, which is mechanistically distinct from GH receptor, STAT5B, IGFALS, IGF1, or IGF1R axis disorders.
Curation actions
- Add a standalone TUSC3-CDG target before treating this IEMbase record as mapped.
- Do not map this record to growth hormone insensitivity based on short stature alone.
- Preserve psychomotor delay, facial dysmorphism, short stature, camptodactyly, syndactyly, and the apparently non-diagnostic sialotransferrin row as future-curation prompts.