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 7B - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peroxisome biogenesis disorder 7B

MONDO:0013939

Also known as:peroxisome biogenesis disorder type 7BPBD7B

Overview

GeneticsAutosomal recessive · PEX26 (chr 22)

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: Decreased liver function, Inner ear hearing loss (sensorineural hearing impairment), Global developmental delay, and Visual impairment and 2 more.

Organ System	Phenotype Count	Example Features
Eyes	2	Visual impairment, Retinal dystrophy

Genetic Landscape

PEX26 function has not been fully characterized.

Peroxisome biogenesis disorder 7B is associated with mutations in the PEX26 gene on chromosome 22.

Diagnosis

Genetic testing for PEX26 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 7B.

1 publication has been identified in PubMed for peroxisome biogenesis disorder 7B. Research spans Basic Science / Preclinical (100%).

Recent Publications

Koyano F (2024). [PMID: 39472561](https://pubmed.ncbi.nlm.nih.gov/39472561/). *Nat Commun*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614873

GARD

Genetic and Rare Diseases Info Center

GARD:15867

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 7B

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

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