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peroxisome biogenesis disorder 5A (Zellweger) (PBD5A) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peroxisome biogenesis disorder 5A (Zellweger)

MONDO:0013932

Also known as:PBD5Aperoxisome biogenesis disorder, complementation group 10peroxisome biogenesis disorder, complementation group 5

Overview

GeneticsAutosomal recessive · PEX2 (chr 8)

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 common findings: Seizure, Low muscle tone (hypotonia), Increased circulating very long-chain fatty acid concentration, and Elevated circulating aspartate aminotransferase concentration and others; and sometimes findings: Epicanthus, Lethargy, Hearing loss (hearing impairment), and Elevated circulating alkaline phosphatase concentration and others. 81 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	7

Genetic Landscape

PEX2 function has not been fully characterized.

Peroxisome biogenesis disorder 5A (Zellweger) is associated with mutations in the PEX2 gene on chromosome 8.

Diagnosis

Genetic testing for PEX2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 12 common 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 5A (Zellweger).

3 publications have been identified in PubMed for peroxisome biogenesis disorder 5A (Zellweger). Research spans Basic Science / Preclinical (100%).

Recent Publications

Correia J (2026). [PMID: 40632619](https://pubmed.ncbi.nlm.nih.gov/40632619/). *The journals of gerontology. Series A, Biological sciences and medical sciences*. [Basic Science / Preclinical]
Amin S (2025). [PMID: 40552310](https://pubmed.ncbi.nlm.nih.gov/40552310/). *Frontiers in cell and developmental biology*. [Basic Science / Preclinical]
Gomez VA (2025). [PMID: 40621817](https://pubmed.ncbi.nlm.nih.gov/40621817/). *Disease models & mechanisms*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:33 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614866

GARD

Genetic and Rare Diseases Info Center

GARD:15861

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 5A (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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