Zellweger spectrum disorders
Findings
No curated finding names Zellweger spectrum disorders yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.
Definition from the Mondo Disease Ontology (MONDO:0019609), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
71 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal pinna morphologyHPOHP:0000377
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- Constriction of peripheral visual fieldHPOHP:0001133
- Very frequent (80% to 99% of cases)
- Corneal opacityHPOHP:0007957
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Diminished deep tendon reflexHPOHP:0001315
- Very frequent (80% to 99% of cases)
Show the remaining 59
- Flat faceHPOHP:0012368
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Hepatic failureHPOHP:0001399
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- Very frequent (80% to 99% of cases)
- High foreheadHPOHP:0000348
- Very frequent (80% to 99% of cases)
- JaundiceHPOHP:0000952
- Very frequent (80% to 99% of cases)
Genes
13 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PEX1HGNC:8850
- Supportive · Orphanet · Autosomal recessive · 2021
- PEX10HGNC:8851
- Supportive · Orphanet · Autosomal recessive · 2021
- PEX11BHGNC:8853
- Supportive · Orphanet · Autosomal recessive · 2021
- PEX12HGNC:8854
- Supportive · Orphanet · Autosomal recessive · 2021
- PEX13HGNC:8855
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- Narrower terms (15)
- peroxisome biogenesis disorder 9B
- peroxisome biogenesis disorder due to PEX1 defect
- peroxisome biogenesis disorder due to PEX10 defect
- peroxisome biogenesis disorder due to PEX11B defect
- peroxisome biogenesis disorder due to PEX12 defect
- peroxisome biogenesis disorder due to PEX13 defect
- peroxisome biogenesis disorder due to PEX14 defect
- peroxisome biogenesis disorder due to PEX16 defect
- peroxisome biogenesis disorder due to PEX19 defect
- peroxisome biogenesis disorder due to PEX2 defect
- peroxisome biogenesis disorder due to PEX26 defect
- peroxisome biogenesis disorder due to PEX3 defect
- peroxisome biogenesis disorder due to PEX5 defect
- peroxisome biogenesis disorder due to PEX6 defect
- peroxisome biogenesis disorder, complementation group 2
Other names
4 names
Resolves to: Zellweger spectrum disorders
- Also called
- cerebrohepatorenal syndromeZellweger syndromeZSZWS