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triosephosphate isomerase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

triosephosphate isomerase deficiency

MONDO:0014221

Also known as:hemolytic anaemia due to triosephosphate isomerase deficiencyhemolytic anemia due to triosephosphate isomerase deficiencytriose phosphate-isomerase deficiency

Overview

Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

GeneticsAutosomal recessive · TPI1 (chr 12)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Respiratory failure, Prolonged neonatal jaundice, Respiratory distress, and Ongoing breakdown of red blood cells (chronic hemolytic anemia); and common findings: Low muscle tone (hypotonia), Failure to thrive, Oligohydramnios, and Brain shrinkage (cerebral atrophy) and others. 33 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8

Genetic Landscape

TPI1 function has not been fully characterized.

Triosephosphate isomerase deficiency is associated with mutations in the TPI1 gene on chromosome 12.

Diagnosis

Genetic testing for TPI1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for triosephosphate isomerase deficiency.

10 publications have been identified in PubMed for triosephosphate isomerase deficiency. Research spans Basic Science / Preclinical (40%), Gene Therapy / Novel Therapeutics (30%), and Case Report / Case Series (20%).

Research Type	Count	% of Total
Laboratory research	4	40%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615512

Orphanet

European rare disease database

Orphanet:868

GARD

Genetic and Rare Diseases Info Center

GARD:5287

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

triosephosphate isomerase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

triosephosphate isomerase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications