primary hyperoxaluria type 2
Findings
No curated finding names primary hyperoxaluria type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.
Definition from the Mondo Disease Ontology (MONDO:0009824), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
12 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.
- Elevated urinary L-glycerate levelHPOHP:6000670
- 1 of 1 reported patient
- HyperoxaluriaHPOHP:0003159
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Kidney stoneHPOHP:0000787
- Very frequent (80% to 99% of cases)
- NephrocalcinosisHPOHP:0000121
- Very frequent (80% to 99% of cases)
- Calcium oxalate nephrolithiasisHPOHP:0008672
- 3 of 5 reported patients
- Recurrent urinary tract infectionsHPOHP:0000010
- Frequent (30% to 79% 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.
- GRHPRHGNC:4570
- Definitive · Ambry Genetics · Autosomal recessive · 2022
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: primary hyperoxaluria type 2
- Also called
- D-glycerate dehydrogenase deficiencyGRHPR primary hyperoxaluriaL-glyceric aciduriaprimary hyperoxaluria caused by mutation in GRHPRprimary hyperoxaluria type II