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
Disease Ontology
DOID:0050884
Mondo Disease Ontology
MeSH
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7167 TPI1 triosephosphate isomerase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
21991 Tpi1 triosephosphate isomerase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
24849 Tpi1 triosephosphate isomerase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
43582 Tpi Triose phosphate isomerase
Displaying all 2 entries
Gene ID Gene Symbol Description Source
192309 tpi1a triosephosphate isomerase 1a
560753 tpi1b triosephosphate isomerase 1b
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
380168 tpi1.S triosephosphate isomerase 1 S homeolog Xenopus laevis (African clawed frog)
100038162 tpi1 triosephosphate isomerase 1 Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
851620 TPI1 triose-phosphate isomerase TPI1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 42 in total
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
Displaying 1 entry
Gene ID Gene Symbol Description
7167 TPI1 triosephosphate isomerase 1

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Acknowledgements

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Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024