peroxisome biogenesis disorder due to PEX1 defect
Findings
No curated finding names peroxisome biogenesis disorder due to PEX1 defect yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.
Definition from the Mondo Disease Ontology (MONDO:0100259), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
8 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.
- Amelogenesis imperfectaHPOHP:0000705
- 14 of 14 reported patients
- Enamel hypoplasiaHPOHP:0006297
- 14 of 14 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 14 of 14 reported patients
- Retinal pigment epithelial mottlingHPOHP:0007814
- 7 of 12 reported patients
- Beau's linesHPOHP:0041093
- 7 of 14 reported patients
- LeukonychiaHPOHP:0001820
- 4 of 14 reported patients
- Macular dystrophyHPO
Genes
1 gene
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
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · Natera · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
1 name
Resolves to: peroxisome biogenesis disorder due to PEX1 defect
- Also called
- PEX1 related Zellweger spectrum disorder