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Features include always present findings: Upslanted palpebral fissure, Enlarged liver (hepatomegaly), Generalized hypotonia, and Increased circulating very long-chain fatty acid concentration and others. 14 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Muscles | 2 | Generalized neonatal hypotonia, Generalized hypotonia |
PEX6 function has not been fully characterized.
Peroxisome biogenesis disorder 4A (Zellweger) is associated with mutations in the PEX6 gene on chromosome 6.
Genetic testing for PEX6 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 10 always present features.
No clinical trials have been registered for peroxisome biogenesis disorder 4A (Zellweger).
6 publications have been identified in PubMed for peroxisome biogenesis disorder 4A (Zellweger). Kisho has analyzed 4 by research type. Research spans Basic Science / Preclinical (75%) and Case Report / Case Series (25%).
Olarte Bermúdez L (2025). [PMID: 40995270](https://pubmed.ncbi.nlm.nih.gov/40995270/). *Cureus*. [Case Report / Case Series]
Sheedy CJ (2025). [PMID: 40158855](https://pubmed.ncbi.nlm.nih.gov/40158855/). *The Journal of biological chemistry*. [Basic Science / Preclinical]
Wang H (2024). [PMID: 39464338](https://pubmed.ncbi.nlm.nih.gov/39464338/). *Journal of inflammation research*. [Basic Science / Preclinical]
Sheedy CJ (2024). [PMID: 39713301](https://pubmed.ncbi.nlm.nih.gov/39713301/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:32 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Brain and nerves
2 |
Seizure, Depressed nasal bridge |
Digestive system | 2 | Enlarged liver (hepatomegaly), Feeding difficulties in infancy |
Pregnancy and birth | 1 | Generalized neonatal hypotonia |
Lab test results | 1 | Increased circulating very long-chain fatty acid concentration |
Kidneys and urinary system | 1 | Renal cyst |
Lungs and breathing | 1 | Respiratory failure |
AI-curated news mentioning peroxisome biogenesis disorder 4A (Zellweger)
Updated May 18, 2026
A case report highlights early hypotonia and visual regression as initial symptoms of peroxisome biogenesis disorder in an Egyptian patient. This discovery may enhance awareness and diagnostic approaches for this rare condition.