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peroxisome biogenesis disorder due to PEX12 defect - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peroxisome biogenesis disorder due to PEX12 defect

MONDO:0100266

Also known as:PEX12 related Zellweger spectrum disorder

Overview

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene.

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 PEX12 defect.

6 publications have been identified in PubMed for peroxisome biogenesis disorder due to PEX12 defect. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (33%), and Review / Meta-Analysis (17%).

Recent Publications

Correia J (2026). [PMID: 40632619](https://pubmed.ncbi.nlm.nih.gov/40632619/). *J Gerontol A Biol Sci Med Sci*. [Basic Science / Preclinical]
Vercaemst A (2026). [PMID: 41677620](https://pubmed.ncbi.nlm.nih.gov/41677620/). *Cells*. [Review / Meta-Analysis]
Sadek AA (2026). [PMID: 42151956](https://pubmed.ncbi.nlm.nih.gov/42151956/). *BMC Pediatr*. [Case Report / Case Series]
Khalilian S (2025). [PMID: 40205409](https://pubmed.ncbi.nlm.nih.gov/40205409/). *BMC Med Genomics*. [Case Report / Case Series]
Alayoubi AM (2025). [PMID: 39757991](https://pubmed.ncbi.nlm.nih.gov/39757991/). *Ann Med*. [Case Report / Case Series]

Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 6:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

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peroxisome biogenesis disorder due to PEX12 defect

Overview

Research Landscape

Recent Publications

Medical References

Subtypes

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Questions for Your Care Team

Questions for Your Care Team