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peroxisome biogenesis disorder 2A (Zellweger) (PBD2A) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peroxisome biogenesis disorder 2A (Zellweger)

MONDO:0008954

Also known as:PBD2Aperoxisome biogenesis disorder, complementation group 2

Overview

GeneticsAutosomal recessive · PEX5 (chr 12)

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: Elevated circulating long chain fatty acid concentration, Epicanthus, Opacification of the corneal stroma, and Upslanted palpebral fissure and 40 more.

Organ System	Phenotype Count	Example Features
Eyes	4	Opacification of the corneal stroma, Pigmentary retinopathy, Optic nerve dysplasia

Genetic Landscape

PEX5 function has not been fully characterized.

Peroxisome biogenesis disorder 2A (Zellweger) is associated with mutations in the PEX5 gene on chromosome 12.

Diagnosis

Genetic testing for PEX5 is available. Testing is considered confirmatory for diagnosis.

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 2A (Zellweger).

3 publications have been identified in PubMed for peroxisome biogenesis disorder 2A (Zellweger). Research spans Basic Science / Preclinical (100%).

Recent Publications

Das A (2025). [PMID: 40667228](https://pubmed.ncbi.nlm.nih.gov/40667228/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Huang X (2025). [PMID: 40267090](https://pubmed.ncbi.nlm.nih.gov/40267090/). *PloS one*. [Basic Science / Preclinical]
Gaussmann S (2024). [PMID: 38632234](https://pubmed.ncbi.nlm.nih.gov/38632234/). *Nature communications*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:43 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:214110

GARD

Genetic and Rare Diseases Info Center

GARD:15149

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 2A (Zellweger)

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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