primary hyperoxaluria type 3
Findings
No curated finding names primary hyperoxaluria type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis.
Definition from the Mondo Disease Ontology (MONDO:0013327), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
10 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 renal physiologyHPOHP:0012211
- Very frequent (80% to 99% of cases)
- Abnormality of urine homeostasisHPOHP:0003110
- Very frequent (80% to 99% of cases)
- Calcium oxalate nephrolithiasisHPOHP:0008672
- Very frequent (80% to 99% of cases)
- DysuriaHPOHP:0100518
- Very frequent (80% to 99% of cases)
- HematuriaHPOHP:0000790
- Very frequent (80% to 99% of cases)
- HyperoxaluriaHPOHP:0003159
- Very frequent (80% to 99% of cases)
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.
- HOGA1HGNC:25155
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: primary hyperoxaluria type 3
- Also called
- HOGA1 primary hyperoxaluriaprimary hyperoxaluria caused by mutation in HOGA1primary hyperoxaluria type III