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peroxisome biogenesis disorder 5B - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peroxisome biogenesis disorder 5B

MONDO:0013933

Also known as:peroxisome biogenesis disorder type 5BPBD5B

Overview

GeneticsAutosomal recessive · PEX2 (chr 8)

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 always present findings: Rod-cone dystrophy, Joint hypermobility, Global developmental delay, and Very long chain fatty acid accumulation; and sometimes findings: Pes cavus. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Ataxia, Unsteady gait, Hyporeflexia

Genetic Landscape

PEX2 function has not been fully characterized.

Peroxisome biogenesis disorder 5B is associated with mutations in the PEX2 gene on chromosome 8.

Diagnosis

Genetic testing for PEX2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 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 5B.

4 publications have been identified in PubMed for peroxisome biogenesis disorder 5B. Research spans Basic Science / Preclinical (100%).

Recent Publications

Gomez VA (2025). [PMID: 40621817](https://pubmed.ncbi.nlm.nih.gov/40621817/). *Disease models & mechanisms*. [Basic Science / Preclinical]
Amin S (2025). [PMID: 40552310](https://pubmed.ncbi.nlm.nih.gov/40552310/). *Frontiers in cell and developmental biology*. [Basic Science / Preclinical]
Pinelli M (2024). [PMID: 39069546](https://pubmed.ncbi.nlm.nih.gov/39069546/). *Cell death & disease*. [Basic Science / Preclinical]
Montes ID (2024). [PMID: 39386596](https://pubmed.ncbi.nlm.nih.gov/39386596/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 5:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614867

GARD

Genetic and Rare Diseases Info Center

GARD:15862

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 5B

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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