IEMbase 0653: TPI1-related triosephosphate isomerase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 653 |
| Nosology | 3.3.09.01 |
| Nosology code | IEM0382 |
| Gene | TPI1 |
| External IDs | OMIM:615512; ORPHA:868 |
| Generated mapping | UNMAPPED; weak candidate Hereditary_Intrinsic_Factor_Deficiency.yaml |
| Candidate DisMech targets | No exact local target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive TPI1-related triosephosphate isomerase deficiency, also labeled hemolytic anemia due to triosephosphate isomerase deficiency and hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency. Treatability is marked no.
Biochemical rows include decreased red-cell triosephosphate isomerase activity and increased red-cell dihydroxyacetone phosphate. Clinical rows include recurrent infections and hemolytic anemia, with optional cardiomyopathy, dystonia, progressive muscle weakness, seizures, stroke, tremor, and intellectual disability.
DisMech phenotype coverage
Hereditary_Intrinsic_Factor_Deficiency.yaml is a false candidate based on
anemia wording. It models CBLIF/GIF-related cobalamin absorption failure,
methylmalonic aciduria, hyperhomocysteinemia, megaloblastic anemia, and vitamin
B12 replacement. It does not model glycolysis, TPI1, red-cell TPI activity,
dihydroxyacetone phosphate, nonspherocytic hemolysis, or the neuromuscular and
cardiac complications of TPI deficiency.
Local hemolytic-anemia entries and modules provide broad anemia context, but no TPI1-specific disease anchor was found.
Concordance and completeness
Judgement: true local TPI1 / triosephosphate isomerase deficiency gap.
The generated candidate should be rejected because the anemia mechanism is different: cobalamin-dependent megaloblastic erythropoiesis versus a glycolytic enzyme defect causing hemolytic anemia with systemic neurologic and muscular features.
Curation actions
- Keep this row unmapped until a TPI1 / triosephosphate isomerase deficiency target exists.
- Do not map to
Hereditary_Intrinsic_Factor_Deficiency.yaml. - Preserve red-cell TPI activity, dihydroxyacetone phosphate, hemolytic anemia, recurrent infections, cardiomyopathy, dystonia, progressive weakness, seizures, stroke, tremor, and intellectual-disability prompts.