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peroxisome biogenesis disorder 10A (Zellweger) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peroxisome biogenesis disorder 10A (Zellweger)

MONDO:0013948

Also known as:PBD10Aperoxisome biogenesis disorder, complementation group 12peroxisome biogenesis disorder, complementation group G

Overview

GeneticsAutosomal recessive · PEX3 (chr 6)

ResearchLimited published research (1 article)

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: Epicanthus, Generalized neonatal hypotonia, Downslanted palpebral fissures, and Seizure and 14 more.

Organ System	Phenotype Count	Example Features
Muscles	2	Generalized neonatal hypotonia, Generalized hypotonia
Pregnancy and birth

Genetic Landscape

PEX3 function has not been fully characterized.

Peroxisome biogenesis disorder 10A (Zellweger) is associated with mutations in the PEX3 gene on chromosome 6.

Diagnosis

Genetic testing for PEX3 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 10A (Zellweger).

1 publication has been identified in PubMed for peroxisome biogenesis disorder 10A (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]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614882

GARD

Genetic and Rare Diseases Info Center

GARD:15873

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 10A (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

Questions for Your Care Team

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