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peroxisome biogenesis disorder due to PEX6 defect - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peroxisome biogenesis disorder due to PEX6 defect

MONDO:0100263

Also known as:PEX6 related Zellweger spectrum disorder

Overview

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene.

ResearchLimited published research (7 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 PEX6 defect.

7 publications have been identified in PubMed for peroxisome biogenesis disorder due to PEX6 defect. Research spans Case Report / Case Series (43%), Basic Science / Preclinical (43%), and Gene Therapy / Novel Therapeutics (14%).

Recent Publications

Theunis M (2026). [PMID: 41126390](https://pubmed.ncbi.nlm.nih.gov/41126390/). *Ophthalmic genetics*. [Basic Science / Preclinical]
AlMoallem B (2026). [PMID: 42074478](https://pubmed.ncbi.nlm.nih.gov/42074478/). *Genes (Basel)*. [Case Report / Case Series]
Sheedy CJ (2025). [PMID: 40158855](https://pubmed.ncbi.nlm.nih.gov/40158855/). *The Journal of biological chemistry*. [Basic Science / Preclinical]
Alayoubi AM (2025). [PMID: 39757991](https://pubmed.ncbi.nlm.nih.gov/39757991/). *Annals of medicine*. [Case Report / Case Series]
Khalilian S (2025). [PMID: 40205409](https://pubmed.ncbi.nlm.nih.gov/40205409/). *BMC medical genomics*. [Case Report / Case Series]

Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

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peroxisome biogenesis disorder due to PEX6 defect

Overview

Research Landscape

Recent Publications

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team