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peroxisome biogenesis disorder 11A (Zellweger) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peroxisome biogenesis disorder 11A (Zellweger)

MONDO:0013949

Also known as:PBD11Aperoxisome biogenesis disorder, complementation group 13peroxisome biogenesis disorder, complementation group H

Overview

GeneticsAutosomal recessive · PEX13 (chr 2)

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: Floppy infant, Decreased liver function, Anteverted nares, and Seizure and 16 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Seizure, Global developmental delay, Depressed nasal bridge
Digestive system

Genetic Landscape

PEX13 function has not been fully characterized.

Peroxisome biogenesis disorder 11A (Zellweger) is associated with mutations in the PEX13 gene on chromosome 2.

Diagnosis

Genetic testing for PEX13 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 11A (Zellweger).

2 publications have been identified in PubMed for peroxisome biogenesis disorder 11A (Zellweger). Research spans Basic Science / Preclinical (100%).

Recent Publications

Sun JT (2024). [PMID: 38951640](https://pubmed.ncbi.nlm.nih.gov/38951640/). *Communications biology*. [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 20, 2026, 5:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614883

GARD

Genetic and Rare Diseases Info Center

GARD:15874

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 11A (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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