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peroxisome biogenesis disorder 8A (Zellweger) (PBD8A) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peroxisome biogenesis disorder 8A (Zellweger)

MONDO:0013942

Also known as:PBD8Aperoxisome biogenesis disorder, complementation group 9peroxisome biogenesis disorder, complementation group D

Overview

GeneticsAutosomal recessive · PEX16 (chr 11)

ResearchLimited published research (4 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: Generalized neonatal hypotonia, Elevated circulating aspartate aminotransferase concentration, Seizure, and Enlarged liver (hepatomegaly) and 8 more.

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

Genetic Landscape

PEX16 function has not been fully characterized.

Peroxisome biogenesis disorder 8A (Zellweger) is associated with mutations in the PEX16 gene on chromosome 11.

Diagnosis

Genetic testing for PEX16 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 8A (Zellweger).

4 publications have been identified in PubMed for peroxisome biogenesis disorder 8A (Zellweger). Research spans Basic Science / Preclinical (75%) and Case Report / Case Series (25%).

Recent Publications

Shukla N (2025). [PMID: 41315397](https://pubmed.ncbi.nlm.nih.gov/41315397/). *Nat Commun*. [Basic Science / Preclinical]
Wehbe M (2025). [PMID: 40271797](https://pubmed.ncbi.nlm.nih.gov/40271797/). *Clin Genet*. [Case Report / Case Series]
Montes ID (2024). [PMID: 39386596](https://pubmed.ncbi.nlm.nih.gov/39386596/). *bioRxiv*. [Basic Science / Preclinical]
Sun JT (2024). [PMID: 38951640](https://pubmed.ncbi.nlm.nih.gov/38951640/). *Commun Biol*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 8:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614876

GARD

Genetic and Rare Diseases Info Center

GARD:15869

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 8A (Zellweger)

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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