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

inborn disorder of pentose phosphate metabolism - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

inborn disorder of pentose phosphate metabolism

MONDO:0019231

Also known as:disorder of pentose phosphate metabolism

Overview

OnsetCONGENITAL

Diagnosis

Biomarker and diagnostic research for inborn disorder of pentose phosphate metabolism has been reported in the published literature.

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 inborn disorder of pentose phosphate metabolism.

136 publications have been identified in PubMed for inborn disorder of pentose phosphate metabolism. Research spans Basic Science / Preclinical (67%), Review / Meta-Analysis (25%), and Gene Therapy / Novel Therapeutics (4%).

Research Type	Count	% of Total
Laboratory research	91	67%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 8:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:79186

GARD

Genetic and Rare Diseases Info Center

GARD:18962

Questions for Your Care Team

→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

inborn disorder of pentose phosphate metabolism

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications