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non-Zellweger spectrum disorder - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

non-Zellweger spectrum disorder

MONDO:0100322

Overview

A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7.

Patient Orgs2 organizations · PBD Project, Global Foundation for Peroxisomal Disorders

ResearchLimited published research (4 articles)

Diagnosis

Biomarker and diagnostic research for non-Zellweger spectrum disorder 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.

No clinical trials have been registered for non-Zellweger spectrum disorder.

4 publications have been identified in PubMed for non-Zellweger spectrum disorder. Research spans Diagnostic / Biomarker (25%), Clinical Trial Publication (25%), and Basic Science / Preclinical (25%).

Recent Publications

Gao XD (2026). [PMID: 41981313](https://pubmed.ncbi.nlm.nih.gov/41981313/). *Nat Biomed Eng*. [Basic Science / Preclinical]
Bonaventura E (2025). [PMID: 41133696](https://pubmed.ncbi.nlm.nih.gov/41133696/). *International journal of neonatal screening*. [Clinical Trial Publication]
Cheung ACT (2025). [PMID: 40112482](https://pubmed.ncbi.nlm.nih.gov/40112482/). *Molecular genetics and metabolism*. [Diagnostic / Biomarker]
Mares Beltran CF (2024). [PMID: 39062617](https://pubmed.ncbi.nlm.nih.gov/39062617/). *Genes*. [Epidemiology / Natural History]

Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 4:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

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PBD ProjectPrimary Focus

USWebsite ↗

Global Foundation for Peroxisomal Disorders

USWebsite ↗

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with PBD Project and other patient organizations for support?

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Kisho

non-Zellweger spectrum disorder

Overview

Diagnosis

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

In vivo base editing rescues liver pathophysiology and peroxisome dysfunction in a mouse model of Zellweger spectrum disorder.

non-Zellweger spectrum disorder

Overview

Diagnosis

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

In vivo base editing rescues liver pathophysiology and peroxisome dysfunction in a mouse model of Zellweger spectrum disorder.