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peroxisomal disease - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peroxisomal disease

MONDO:0019053

Also known as:disorder of peroxisomal functionperoxisomal function disorder

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Overview

A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia.

Clinical Trials1 registered

Diagnosis

Biomarker and diagnostic research for peroxisomal disease 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.

1 clinical trial registered. Interventions under study include drug therapy and biologic therapy. Pipeline includes 1 PHASE2. Research is primarily sponsored by academic and government institutions.

199 publications have been identified in PubMed for peroxisomal disease. Research spans Basic Science / Preclinical (51%), Review / Meta-Analysis (24%), and Case Report / Case Series (15%).

Research Type	Count	% of Total
Laboratory research	101

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 11:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:68373

GARD

Genetic and Rare Diseases Info Center

GARD:18885

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→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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peroxisomal disease

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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