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peroxisome biogenesis disorder 12A (Zellweger) (Cg14) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peroxisome biogenesis disorder 12A (Zellweger)

MONDO:0013951

Also known as:Cg14CgjPBD12A

Overview

GeneticsAutosomal recessive · PEX19 (chr 1)

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: Elevated circulating long chain fatty acid concentration, Epicanthus, Hepatic failure, and Seizure and others. 37 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Seizure, Hydrocephalus, Brain shrinkage (cerebral atrophy)

Genetic Landscape

PEX19 function has not been fully characterized.

Peroxisome biogenesis disorder 12A (Zellweger) is associated with mutations in the PEX19 gene on chromosome 1.

Diagnosis

Genetic testing for PEX19 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 23 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 12A (Zellweger).

2 publications have been identified in PubMed for peroxisome biogenesis disorder 12A (Zellweger). Research spans Basic Science / Preclinical (100%).

Recent Publications

Gaussmann S (2024). [PMID: 38632234](https://pubmed.ncbi.nlm.nih.gov/38632234/). *Nature communications*. [Basic Science / Preclinical]
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, 5:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614886

GARD

Genetic and Rare Diseases Info Center

GARD:15876

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 12A (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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