IEMbase 0783: SLC29A1-related ENT1 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 783 |
| Nosology | 16.3.15.01 |
| Nosology code | IEM0040 |
| Gene | SLC29A1 |
| External IDs | OMIM:602193 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | No exact local target; reject generated SLC35A2-CDG.yaml neighbor |
| Review date | 2026-07-11 |
IEMbase phenotype signal
IEMbase labels this autosomal recessive record as SLC29A1-related equilibrative nucleoside transporter 1 deficiency, with alternate name Augustine-null blood type and ectopic mineralization and abbreviation ENT1. The record is narrow, with adult Augustine-null blood type, periarticular calcification, and pseudogout.
DisMech phenotype coverage
No exact DisMech target was found. The generated lexical neighbor
SLC35A2-CDG.yaml is unrelated. Local disease content includes scattered ENT1
or nucleoside-transporter mentions, such as treatment-context uptake in MNGIE,
but those do not represent the SLC29A1/Augustine-null mineralization disorder.
Concordance and completeness
Judgement: true local gap.
The local knowledge base has related concepts around ectopic mineralization and nucleoside metabolism, but no disease entry captures SLC29A1, Augustine-null blood type, periarticular calcification, or pseudogout as a single inherited condition.
Curation actions
- Keep IEMbase 0783 unmapped.
- Reject
SLC35A2-CDG.yamland incidental ENT1 transporter mentions as local coverage. - Future curation should preserve the combined hematologic blood-group identity and ectopic-mineralization phenotype rather than splitting them into separate unrelated findings.