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peroxisome biogenesis disorder 11B - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peroxisome biogenesis disorder 11B

MONDO:0013950

Also known as:peroxisome biogenesis disorder type 11BPBD11B

Overview

GeneticsAutosomal recessive · PEX13 (chr 2)

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 always present findings: Visual loss, Hearing loss (hearing impairment), Feeding difficulties, and Low muscle tone (hypotonia) and others. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	3	Progressive muscle weakness, Low muscle tone (hypotonia), Muscle weakness

Genetic Landscape

PEX13 function has not been fully characterized.

Peroxisome biogenesis disorder 11B is associated with mutations in the PEX13 gene on chromosome 2.

Diagnosis

Genetic testing for PEX13 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 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 11B.

1 publication has been identified in PubMed for peroxisome biogenesis disorder 11B. Research spans Basic Science / Preclinical (100%).

Recent Publications

Oh J (2025). [PMID: 39824813](https://pubmed.ncbi.nlm.nih.gov/39824813/). *Nat Commun*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 5:03 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614885

GARD

Genetic and Rare Diseases Info Center

GARD:15875

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 11B

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

Questions for Your Care Team

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