Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

peroxisome biogenesis disorder 8B - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peroxisome biogenesis disorder 8B

MONDO:0013943

Also known as:peroxisome biogenesis disorder type 8BPBD8B

Overview

GeneticsAutosomal recessive · PEX16 (chr 11)

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: Elevated circulating phytanic acid concentration and Very long chain fatty acid accumulation; and common findings: Dysmetria, Ataxia, Cataract, and Frequent falls and others. 42 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	19	Clonus, Gait ataxia, Muscle stiffness (rigidity)

Genetic Landscape

PEX16 function has not been fully characterized.

Peroxisome biogenesis disorder 8B is associated with mutations in the PEX16 gene on chromosome 11.

Diagnosis

Genetic testing for PEX16 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 10 common 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 8B.

3 publications have been identified in PubMed for peroxisome biogenesis disorder 8B. Research spans Basic Science / Preclinical (100%).

Recent Publications

Shukla N (2025). [PMID: 41315397](https://pubmed.ncbi.nlm.nih.gov/41315397/). *Nat Commun*. [Basic Science / Preclinical]
Koyano F (2024). [PMID: 39472561](https://pubmed.ncbi.nlm.nih.gov/39472561/). *Nat Commun*. [Basic Science / Preclinical]
Sun JT (2024). [PMID: 38951640](https://pubmed.ncbi.nlm.nih.gov/38951640/). *Commun Biol*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614877

GARD

Genetic and Rare Diseases Info Center

GARD:15870

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?

← Back to All Diseases

peroxisome biogenesis disorder 8B

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

Explore clinical features