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peroxisome biogenesis disorder 3A (Zellweger) (PBD3A) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peroxisome biogenesis disorder 3A (Zellweger)

MONDO:0013927

Also known as:PBD3Aperoxisome biogenesis disorder, complementation group 3

Overview

GeneticsAutosomal recessive · PEX12 (chr 17)

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: Wide nasal bridge, Wide anterior fontanel, Seizure, and Poor suck and others. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	3	Generalized neonatal hypotonia, Low muscle tone (hypotonia), Generalized hypotonia

Genetic Landscape

PEX12 function has not been fully characterized.

Peroxisome biogenesis disorder 3A (Zellweger) is associated with mutations in the PEX12 gene on chromosome 17.

Diagnosis

Genetic testing for PEX12 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 11 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 3A (Zellweger).

2 publications have been identified in PubMed for peroxisome biogenesis disorder 3A (Zellweger). Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Su J (2026). [PMID: 41495707](https://pubmed.ncbi.nlm.nih.gov/41495707/). *BMC Pediatr*. [Case Report / Case Series]
Correia J (2026). [PMID: 40632619](https://pubmed.ncbi.nlm.nih.gov/40632619/). *J Gerontol A Biol Sci Med Sci*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614859

GARD

Genetic and Rare Diseases Info Center

GARD:15858

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 3A (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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