peroxisome biogenesis disorder type 3B
Findings
No curated finding names peroxisome biogenesis disorder type 3B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation.
Definition from the Mondo Disease Ontology (MONDO:0009959), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
13 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 light-adapted flicker electroretinogramHPOHP:0030473
- 1 of 1 reported patient
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 1 of 1 reported patient
- Elevated circulating phytanic acid concentrationHPOHP:0010571
- 1 of 1 reported patient
- EsodeviationHPOHP:0020045
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.
- PEX12HGNC:8854
- Definitive · G2P · Autosomal recessive · 2017
Where it sits
Other names
2 names
Resolves to: peroxisome biogenesis disorder type 3B
- Also called
- infantile phytanic acid storage diseaseperoxisome biogenesis disorder 3B