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peroxisome biogenesis disorder 4B - Clinical Profile, Genes & Research | Kisho | Kisho

Features include common findings: Damage to the optic nerve (optic atrophy), Hearing loss (hearing impairment), Visible small blood vessels in the eye (conjunctival telangiectasia), and Blindness and others. 38 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Seizure, Ataxia, Intellectual disability
Eyes	6	Nystagmus, Retinal dystrophy, Visual impairment
Muscles	4	Generalized hypotonia, Neonatal hypotonia, Damage to the optic nerve (optic atrophy)
Ears	3	Inner ear hearing loss (sensorineural hearing impairment), Hearing loss (hearing impairment), Cochlear degeneration
Digestive system	2	Decreased liver function, Enlarged liver (hepatomegaly)
Lab test results	2	Elevated circulating alpha-fetoprotein concentration, Mildly elevated creatine kinase
Head and neck	1	Macrocephaly
Metabolism	1	Recurrent fever
Pregnancy and birth	1	Neonatal hypotonia
Hormones	1	Adrenal insufficiency
Skin	1	Visible small blood vessels in the eye (conjunctival telangiectasia)
Arms and legs	1	Impaired vibration sensation in the lower limbs

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

110 publications have been identified in PubMed for peroxisome biogenesis disorder 4B. Research spans Case Report / Case Series (51%), Basic Science / Preclinical (21%), and Review / Meta-Analysis (20%).

Research Type	Count	% of Total
Patient case studies	56	51%
Laboratory research	23	21%
Research summaries	22	20%
Disease patterns and progression	6	5%
Testing and diagnosis research	1	1%
Clinical study results	1	1%
New treatment approaches	1	1%

Recent Publications

Gurram V (2026). [PMID: 41929135](https://pubmed.ncbi.nlm.nih.gov/41929135/). *bioRxiv*. [Basic Science / Preclinical]
Zmysłowska-Polakowska E (2026). [PMID: 42042926](https://pubmed.ncbi.nlm.nih.gov/42042926/). *Metabolites*. [Basic Science / Preclinical]
Bellia F (2026). [PMID: 42082117](https://pubmed.ncbi.nlm.nih.gov/42082117/). *Biochem Pharmacol*. [Gene Therapy / Novel Therapeutics]
Huang S (2026). [PMID: 42043906](https://pubmed.ncbi.nlm.nih.gov/42043906/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Diler Durgut B (2026). [PMID: 41979576](https://pubmed.ncbi.nlm.nih.gov/41979576/). *Neurocase*. [Case Report / Case Series]
Jawabri AA (2026). [PMID: 42051465](https://pubmed.ncbi.nlm.nih.gov/42051465/). *Hum Mutat*. [Case Report / Case Series]
Mahale RR (2026). [PMID: 42080998](https://pubmed.ncbi.nlm.nih.gov/42080998/). *Cerebellum*. [Review / Meta-Analysis]
Gagrani M (2026). [PMID: 42220056](https://pubmed.ncbi.nlm.nih.gov/42220056/). *Ophthalmic Genet*. [Case Report / Case Series]
Porowski M (2026). [PMID: 41761595](https://pubmed.ncbi.nlm.nih.gov/41761595/). *Am J Case Rep*. [Case Report / Case Series]
Chaurasia A (2026). [PMID: 41646768](https://pubmed.ncbi.nlm.nih.gov/41646768/). *medRxiv : the preprint server for health sciences*. [Basic Science / Preclinical]

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peroxisome biogenesis disorder 4B

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

peroxisome biogenesis disorder 4B

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team