triosephosphate isomerase deficiency
Findings
No curated finding names triosephosphate isomerase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.
Definition from the Mondo Disease Ontology (MONDO:0014221), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Neonatal onset · Death in adolescence
HPO, annotations 2026-09-02
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Chronic hemolytic anemiaHPOHP:0004870
- 2 of 2 reported patients
- Prolonged neonatal jaundiceHPOHP:0006579
- 2 of 2 reported patients
- Respiratory distressHPOHP:0002098
- 2 of 2 reported patients
- Respiratory failureHPOHP:0002878
- 2 of 2 reported patients
- Abnormality of immune system physiologyHPOHP:0010978
- Very frequent (80% to 99% of cases)
- Central nervous system degenerationHPOHP:0007009
- Very frequent (80% to 99% of cases)
- Hypotonia
Show the remaining 4
- OligohydramniosHPOHP:0001562
- 1 of 2 reported patients
- Respiratory insufficiencyHPOHP:0002093
- 1 of 2 reported patients
- Decreased nerve conduction velocityHPOHP:0000762
- Occasional (5% to 29% of cases)
- Hypertrophic cardiomyopathyHPOHP:0001639
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TPI1HGNC:12009
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: triosephosphate isomerase deficiency
- Also called
- hemolytic anaemia due to triosephosphate isomerase deficiencyhemolytic anemia due to triosephosphate isomerase deficiencytriose phosphate-isomerase deficiency