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peroxisome biogenesis disorder 6B - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peroxisome biogenesis disorder 6B

MONDO:0013937

Also known as:peroxisome biogenesis disorder type 6BPBD6B

Overview

GeneticsAutosomal recessive · PEX10 (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: Shrinkage of the cerebellum (cerebellar atrophy), Low muscle tone (hypotonia), Ataxia, and Delayed menarche and others; and common findings: Distal amyotrophy, Gait ataxia, Prolonged neonatal jaundice, and Pes cavus and others. 31 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Gait ataxia, Ataxia, Intention tremor

Genetic Landscape

PEX10 function has not been fully characterized.

Peroxisome biogenesis disorder 6B is associated with mutations in the PEX10 gene on chromosome 1.

Diagnosis

Genetic testing for PEX10 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for peroxisome biogenesis disorder 6B has been reported in the published literature.

Prognosis

Phenotype severity distribution: 10 always present features, 11 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 6B.

3 publications have been identified in PubMed for peroxisome biogenesis disorder 6B. Research spans Diagnostic / Biomarker (33%), Review / Meta-Analysis (33%), and Basic Science / Preclinical (33%).

Recent Publications

Amin S (2025). [PMID: 40552310](https://pubmed.ncbi.nlm.nih.gov/40552310/). *Frontiers in cell and developmental biology*. [Review / Meta-Analysis]
Buck GC (2025). [PMID: 40577590](https://pubmed.ncbi.nlm.nih.gov/40577590/). *The Plant cell*. [Basic Science / Preclinical]
Xue H (2024). [PMID: 39009665](https://pubmed.ncbi.nlm.nih.gov/39009665/). *Scientific reports*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614871

GARD

Genetic and Rare Diseases Info Center

GARD:15865

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 6B

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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