primary hyperoxaluria type 1
Findings
No curated finding names primary hyperoxaluria type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.
Definition from the Mondo Disease Ontology (MONDO:0009823), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
25 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.
- DehydrationHPOHP:0001944
- 1 of 1 reported patient
- Elevated urinary glycolic acid levelHPOHP:6000431
- 1 of 1 reported patient
- Elevated urinary glyoxylic acid levelHPOHP:6000702
- 2 of 2 reported patients
- HyperoxaluriaHPOHP:0003159
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- NephrocalcinosisHPOHP:0000121
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Renal insufficiencyHPOHP:0000083
- 1 of 1 reported patient
Show the remaining 13
- DysuriaHPOHP:0100518
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- HematuriaHPOHP:0000790
- Frequent (30% to 79% of cases)
- Abnormality of the skeletal systemHPOHP:0000924
- Occasional (5% to 29% of cases)
- EnuresisHPOHP:0000805
- Occasional (5% to 29% of cases)
- Recurrent urinary tract infectionsHPOHP:0000010
- Occasional (5% to 29% 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.
- AGXTHGNC:341
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2022
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: primary hyperoxaluria type 1
- Also called
- AGXT primary hyperoxaluriaglycolic aciduriaperoxisomal alanine-glyoxylate aminotransferase deficiencyPH1primary hyperoxaluria caused by mutation in AGXTprimary hyperoxaluria type I