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peroxisome biogenesis disorder due to PEX5 defect - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peroxisome biogenesis disorder due to PEX5 defect

MONDO:0100262

Also known as:PEX5 related Zellweger spectrum disorder

Overview

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX5 gene.

OnsetNEONATAL

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 PEX5 defect.

6 publications have been identified in PubMed for peroxisome biogenesis disorder due to PEX5 defect. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (33%), and Epidemiology / Natural History (17%).

Recent Publications

Sheedy CJ (2025). [PMID: 40158855](https://pubmed.ncbi.nlm.nih.gov/40158855/). *The Journal of biological chemistry*. [Basic Science / Preclinical]
Sodders M (2025). [PMID: 39385706](https://pubmed.ncbi.nlm.nih.gov/39385706/). *G3 (Bethesda, Md.)*. [Case Report / Case Series]
Jiang CS (2025). [PMID: 39851575](https://pubmed.ncbi.nlm.nih.gov/39851575/). *Cells*. [Basic Science / Preclinical]
Khalilian S (2025). [PMID: 40205409](https://pubmed.ncbi.nlm.nih.gov/40205409/). *BMC medical genomics*. [Epidemiology / Natural History]
Bernal-Bonilla IT (2025). [PMID: 40934063](https://pubmed.ncbi.nlm.nih.gov/40934063/). *The application of clinical genetics*. [Case Report / Case Series]

Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 10:37 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

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peroxisome biogenesis disorder due to PEX5 defect

Overview

Research Landscape

Recent Publications

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team