Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

hemolytic anemia due to glucophosphate isomerase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hemolytic anemia due to glucophosphate isomerase deficiency

MONDO:0013275

Also known as:CNSHA4anemia, congenital, nonspherocytic hemolytic, 4, glucose phosphate isomerase deficientglucosephosphate isomerase deficiency

Overview

A rare hemolytic anemia due to a defect of the glycolytic enzyme glucose 6-phosphate isomerase (GPI) characterized by chronic nonspherocytic hemolytic anemia and, rarely, neurological impairment.

GeneticsAutosomal recessive · GPI (chr 19)

ResearchLimited published research (4 articles)

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: Ataxia, Cholelithiasis, Sensory ataxia, and Cholecystitis and 9 more.

Organ System	Phenotype Count	Example Features
Digestive system	4	Cholelithiasis, Pigment gallstones, Jaundice
Blood and immune system

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GPI encodes glucose-6-phosphate isomerase (558 aa). Isomerase that catalyzes the conversion of alpha-D-glucose-6-phosphate to beta-D-fructose-6-phosphate, the second step in glycolysis, and the reverse reaction in gluconeogenesis, within the cytoplasm. Highest expression in Cells EBV-transformed lymphocytes (398.0 TPM) and Brain Cerebellar Hemisphere (310.4 TPM).

Hemolytic anemia due to glucophosphate isomerase deficiency is associated with mutations in the GPI gene on chromosome 19.

The GPI protein participates in GPI mannosyltransferase I pathway.

GPI is classified as a druggable target (Druggable Genome, Enzyme, and Growth Factor categories) with score 6.5.

Diagnosis

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

Prognosis

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 hemolytic anemia due to glucophosphate isomerase deficiency.

4 publications have been identified in PubMed for hemolytic anemia due to glucophosphate isomerase deficiency. Research spans Case Report / Case Series (75%) and Epidemiology / Natural History (25%).

Recent Publications

Busehail M (2025). [PMID: 40688839](https://pubmed.ncbi.nlm.nih.gov/40688839/). *Cureus*. [Case Report / Case Series]
Li H (2025). [PMID: 39836218](https://pubmed.ncbi.nlm.nih.gov/39836218/). *J Mol Med (Berl)*. [Case Report / Case Series]
Alotaibi W (2025). [PMID: 41250704](https://pubmed.ncbi.nlm.nih.gov/41250704/). *Cureus*. [Case Report / Case Series]
Glenthøj A (2024). [PMID: 39085840](https://pubmed.ncbi.nlm.nih.gov/39085840/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]

Data assembled from 6 of 12 sources · Last updated Sep 21, 2026, 10:04 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613470

Orphanet

European rare disease database

Orphanet:712

GARD

Genetic and Rare Diseases Info Center

GARD:16541

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?

← Back to All Diseases

hemolytic anemia due to glucophosphate isomerase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features