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peroxisome biogenesis disorder 6A (Zellweger) (PBD6A) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peroxisome biogenesis disorder 6A (Zellweger)

MONDO:0013936

Also known as:PBD6Aperoxisome biogenesis disorder, complementation group 7peroxisome biogenesis disorder, complementation group B

Overview

GeneticsAutosomal recessive · PEX10 (chr 1)

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Wide nasal bridge, Seizure, Low muscle tone (hypotonia), and Renal cyst and others. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	3	Decreased liver function, Enlarged liver (hepatomegaly), Feeding difficulties in infancy

Genetic Landscape

PEX10 function has not been fully characterized.

Peroxisome biogenesis disorder 6A (Zellweger) is associated with mutations in the PEX10 gene on chromosome 1.

Diagnosis

Genetic testing for PEX10 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for peroxisome biogenesis disorder 6A (Zellweger) has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 always present features.

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 6A (Zellweger).

3 publications have been identified in PubMed for peroxisome biogenesis disorder 6A (Zellweger). Research spans Diagnostic / Biomarker (33%), Review / Meta-Analysis (33%), and Basic Science / Preclinical (33%).

Recent Publications

Kim YH (2026). [PMID: 41267209](https://pubmed.ncbi.nlm.nih.gov/41267209/). *Autophagy*. [Basic Science / Preclinical]
Amin S (2025). [PMID: 40552310](https://pubmed.ncbi.nlm.nih.gov/40552310/). *Front Cell Dev Biol*. [Review / Meta-Analysis]
Xue H (2024). [PMID: 39009665](https://pubmed.ncbi.nlm.nih.gov/39009665/). *Sci Rep*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614870

GARD

Genetic and Rare Diseases Info Center

GARD:15864

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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peroxisome biogenesis disorder 6A (Zellweger)

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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