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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:0003202 | Skeletal muscle atrophy |
| HP:0001252 | Hypotonia |
| HP:0007009 | Central nervous system degeneration |
| HP:0000762 | Decreased nerve conduction velocity |
| HP:0006597 | Diaphragmatic paralysis |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0001562 | Oligohydramnios |
| HP:0003323 | Progressive muscle weakness |
| HP:0001263 | Global developmental delay |
| HP:0002093 | Respiratory insufficiency |
