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peroxisome biogenesis disorder due to PEX3 defect - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peroxisome biogenesis disorder due to PEX3 defect

MONDO:0100261

Also known as:PEX3 related Zellweger spectrum disorder

Overview

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX3 gene.

OnsetCHILDHOOD

ResearchLimited published research (6 articles)

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 peroxisome biogenesis disorder due to PEX3 defect.

6 publications have been identified in PubMed for peroxisome biogenesis disorder due to PEX3 defect. Research spans Basic Science / Preclinical (83%) and Case Report / Case Series (17%).

Recent Publications

de Lange EMF (2026). [PMID: 40847603](https://pubmed.ncbi.nlm.nih.gov/40847603/). *The FEBS journal*. [Basic Science / Preclinical]
Su J (2026). [PMID: 41495707](https://pubmed.ncbi.nlm.nih.gov/41495707/). *BMC pediatrics*. [Case Report / Case Series]
Jiang CS (2025). [PMID: 39851575](https://pubmed.ncbi.nlm.nih.gov/39851575/). *Cells*. [Basic Science / Preclinical]
Gomez VA (2025). [PMID: 40621817](https://pubmed.ncbi.nlm.nih.gov/40621817/). *Disease models & mechanisms*. [Basic Science / Preclinical]
Jansen RLM (2024). [PMID: 38762172](https://pubmed.ncbi.nlm.nih.gov/38762172/). *Biochimica et biophysica acta. Molecular cell research*. [Basic Science / Preclinical]

Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 8:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

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peroxisome biogenesis disorder due to PEX3 defect

Overview

Research Landscape

Recent Publications

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team