IEMbase 0384: MAGT1-related Magnesium transporter 1 deficiency (CDG)
Scope
| Field | Value |
|---|---|
| IEMbase ID | 384 |
| Nosology | 18.1.18.01 |
| Gene | MAGT1 |
| External IDs | OMIM:300716; OMIM:300853; ORPHA:317476 |
| Generated mapping | UNMAPPED; low candidate Glycogen_Storage_Disease_Type_I.yaml |
| Candidate DisMech targets | No exact local target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents X-linked MAGT1-related magnesium transporter 1 deficiency (CDG), with alternate names MAGT1-CDG and immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia.
Clinical rows include T-cell immunodeficiency, magnesium transport defect, neoplasm, psychomotor delay, and Epstein-Barr virus infection. The biochemical signal is normal-to-increased serum sialotransferrins. There are no treatment rows.
DisMech phenotype coverage
There is no exact local DisMech target for MAGT1 deficiency/XMEN disease. The
generated Glycogen_Storage_Disease_Type_I.yaml candidate is a false positive:
the local file models G6PC1/SLC37A4 glucose-6-phosphatase-system disease with
fasting hypoglycemia, hepatomegaly, nephromegaly, lactic acidosis,
hyperlipidemia, hyperuricemia, and in GSD Ib neutropenia/infection risk. That
does not capture MAGT1-related magnesium transport, EBV susceptibility, or
CDG/XMEN biology.
The local CD27-related_lymphoproliferative_and_immune_disorder.yaml file
mentions ITK deficiency and MAGT1/XMEN disease as differential
EBV-susceptibility context, but it is not an exact MAGT1 target.
Concordance and completeness
Judgement: true MAGT1/XMEN-CDG gap; reject the GSD I candidate.
The IEMbase record is an X-linked magnesium-transporter and glycosylation disorder with EBV susceptibility and neoplasia risk. The generated candidate is a carbohydrate-storage disorder with a different gene, inheritance, mechanism, and clinical signature.
Curation actions
- Keep this record unmapped until a MAGT1 deficiency/XMEN target exists.
- Do not map to
Glycogen_Storage_Disease_Type_I.yaml. - Preserve the CD27/EBV-susceptibility mention only as differential context.
- If curated, include X-linked inheritance, T-cell immunodeficiency, EBV infection, neoplasia, magnesium transport defect, psychomotor delay, and sialotransferrin findings as review prompts.