IEMbase 0479: SLC5A2-related sodium-glucose cotransporter 2 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 479 |
| Nosology | 3.6.08.01 |
| Gene | SLC5A2 |
| External IDs | OMIM:233100; ORPHA:69076 |
| Generated mapping | UNMAPPED; best candidate Glycogen_Storage_Disease_Type_I.yaml |
| Candidate DisMech targets | Familial_Renal_Glucosuria.yaml; rejected lexical candidate Glycogen_Storage_Disease_Type_I.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents SLC5A2-related sodium-glucose cotransporter 2 deficiency as familial renal glucosuria type 1 / SGLT2 deficiency. It lists autosomal recessive inheritance. The biochemical rows are focused and renal: urinary glucose is increased across ages, plasma glucose is normal, and urinary amino acids are normal to increased. No clinical or treatment rows are recorded.
DisMech phenotype coverage
Familial_Renal_Glucosuria.yaml is the exact local target, even though the
generated mapper missed it. The local entry models familial renal glucosuria as
persistent isolated glucosuria without hyperglycemia and without generalized
Fanconi-type proximal tubulopathy, with a specific SLC5A2-Related subtype. It
captures SLC5A2/SGLT2 loss of function, reduced proximal tubular glucose
reabsorption, normal blood glucose with glucosuria, and occasional volume
depletion / renin-angiotensin-aldosterone activation in high-glucosuria cases.
Concordance and completeness
Judgement: false negative generated mapping; resolve to
Familial_Renal_Glucosuria.yaml#SLC5A2-Related.
The GSD I candidate is a lexical/metabolic false positive. GSD I and GSD Ib have fasting hypoglycemia, liver/kidney glycogen-storage disease, and broad secondary metabolic derangements, while SLC5A2 familial renal glucosuria is an isolated renal glucose-reabsorption defect with normal plasma glucose. The main discordance is inheritance: IEMbase simplifies this row as autosomal recessive, whereas the local entry records semidominant/codominant inheritance with incomplete penetrance for SLC5A2-related disease.
Curation actions
- Treat this as covered by
Familial_Renal_Glucosuria.yaml#SLC5A2-Related. - Reject
Glycogen_Storage_Disease_Type_I.yamlas an exact mapping. - Preserve the inheritance discrepancy as a review flag rather than overwriting the local semidominant/incomplete-penetrance model.