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peroxisome biogenesis disorder 7A (Zellweger) (PBD7A) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peroxisome biogenesis disorder 7A (Zellweger)

MONDO:0013938

Also known as:PBD7Aperoxisome biogenesis disorder, complementation group 8peroxisome biogenesis disorder, complementation group A

Overview

GeneticsAutosomal recessive · PEX26 (chr 22)

ResearchLimited published research (2 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: Long philtrum, Wide anterior fontanel, Severe muscular hypotonia, and Flat face and others. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	3	Enlarged liver (hepatomegaly), Jaundice, Feeding difficulties

Genetic Landscape

PEX26 function has not been fully characterized.

Peroxisome biogenesis disorder 7A (Zellweger) is associated with mutations in the PEX26 gene on chromosome 22.

Diagnosis

Genetic testing for PEX26 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 17 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 7A (Zellweger).

3 publications have been identified in PubMed for peroxisome biogenesis disorder 7A (Zellweger). Kisho has analyzed 2 by research type. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Amin S (2025). [PMID: 40552310](https://pubmed.ncbi.nlm.nih.gov/40552310/). *Front Cell Dev Biol*. [Review / Meta-Analysis]
Montes ID (2024). [PMID: 39386596](https://pubmed.ncbi.nlm.nih.gov/39386596/). *bioRxiv*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614872

GARD

Genetic and Rare Diseases Info Center

GARD:15866

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 7A (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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