IEMbase 0340: SLC35A1-related CMP-sialic acid transporter deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 340 |
| Nosology | 18.4.01.01 |
| Gene | SLC35A1 |
| External IDs | OMIM:603585; ORPHA:238459 |
| Generated mapping | UNMAPPED; low-score candidate SLC35A2-CDG.yaml |
| Candidate DisMech targets | Reject SLC35A2-CDG.yaml as a disease mapping |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents SLC35A1-CDG/CDG-IIf, caused by CMP-sialic acid transporter deficiency. Characteristic rows include ataxia, bleeding tendency, epilepsy, intellectual disability, and macrothrombocytopenia. Additional clinical rows include behavioral disorder, hypotonia, and microcephaly.
The biochemical rows include serum N-glycans, type II sialotransferrins, and altered sialylation of platelet glycoproteins. No treatment rows are present.
DisMech phenotype coverage
The generated SLC35A2-CDG candidate is a close family/pathway neighbor but not a valid disease target. SLC35A2-CDG models an X-linked UDP-galactose transporter defect with hypogalactosylation, developmental and epileptic encephalopathy, SLC35A2 brain mosaicism, and D-galactose supplementation. SLC35A1-CDG instead involves CMP-sialic acid transport, platelet glycoprotein sialylation, macrothrombocytopenia, and bleeding tendency.
No standalone SLC35A1-CDG entry exists locally.
Concordance and completeness
Judgement: true local disease gap; reject SLC35A2-CDG as the mapping target.
Both disorders are nucleotide-sugar-transporter CDGs, but they differ by gene, donor substrate, inheritance pattern, and key phenotype. SLC35A2 is useful context for transporter-CDG modeling only.
Curation actions
- Add a standalone SLC35A1-CDG target before treating this record as mapped.
- Do not map to SLC35A2-CDG based only on the shared transporter/CDG family.
- Preserve macrothrombocytopenia, bleeding tendency, ataxia, epilepsy, microcephaly, platelet glycoprotein sialylation, serum N-glycans, and type II sialotransferrins as future-curation prompts.