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triosephosphate isomerase deficiency
Summary
- Synonym
-
- Triose phosphate-isomerase deficiency
- Definition
- A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait.
- Super Class
- glucose metabolism disease
External Links
- Disease Ontology
- DOID:0050884
- Mondo Disease Ontology
- MeSH
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P60174 | Triosephosphate isomerase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001081 | Cholelithiasis |
| HP:0001895 | Normochromic anemia |
| HP:0002808 | Kyphosis |
| HP:0001332 | Dystonia |
| HP:0000543 | Optic disc pallor |
| HP:0001744 | Splenomegaly |
| HP:0002317 | Unsteady gait |
| HP:0001290 | Generalized hypotonia |
| HP:0003198 | Myopathy |
| HP:0001508 | Failure to thrive |
