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peroxisome biogenesis disorder 14B - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peroxisome biogenesis disorder 14B

MONDO:0013967

Also known as:PEX11B peroxisome biogenesis disorderperoxisome biogenesis disorder type 14BPEX14B

Overview

GeneticsAutosomal recessive · PEX11B (chr 1)

ResearchLimited published research (3 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: Hypertonia, Rotary nystagmus, Strabismus, and Mild intellectual disability and others. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	4	Rotary nystagmus, Strabismus, Nystagmus

Genetic Landscape

PEX11B function has not been fully characterized.

Peroxisome biogenesis disorder 14B is associated with mutations in the PEX11B gene on chromosome 1.

Diagnosis

Genetic testing for PEX11B is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 13 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 14B.

3 publications have been identified in PubMed for peroxisome biogenesis disorder 14B. Research spans Other (67%) and Basic Science / Preclinical (33%).

Recent Publications

Sabbagh Q (2025). [PMID: 39821477](https://pubmed.ncbi.nlm.nih.gov/39821477/). *J Neurol*. [Other]
Henning F (2024). [PMID: 39092477](https://pubmed.ncbi.nlm.nih.gov/39092477/). *Mov Disord Clin Pract*. [Other]
Colasante C (2024). [PMID: 39652567](https://pubmed.ncbi.nlm.nih.gov/39652567/). *PLoS One*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:37 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614920

GARD

Genetic and Rare Diseases Info Center

GARD:15881

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 14B

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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