Research Evidence
Peer-reviewed studies linked via MeSH term "Hyperoxaluria, Primary" from the MEDLINE/PubMed database.
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Clinical features and mutational spectrum of Chinese patients with primary hyperoxaluria type 2.
[object Object], [object Object], [object Object] et al. · Urolithiasis · 2024
PMID: 38727838Meta-Analysis
Transplantation outcomes in patients with primary hyperoxaluria: a systematic review.
[object Object], [object Object], [object Object] et al. · Pediatr Nephrol · 2021
Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review.
[object Object], [object Object], [object Object] et al. · Curr Med Sci · 2018
PMID: 30341509Meta-Analysis
PHYOX2: a pivotal randomized study of nedosiran in primary hyperoxaluria type 1 or 2.
[object Object], [object Object], [object Object] et al. · Kidney Int · 2023
PMID: 36007597RCT
ePHex: a phase 3, double-blind, placebo-controlled, randomized study to evaluate long-term efficacy and safety of Oxalobacter formigenes in patients with primary hyperoxaluria.
[object Object], [object Object], [object Object] et al. · Pediatr Nephrol · 2023
Plasma oxalate and eGFR are correlated in primary hyperoxaluria patients with maintained kidney function-data from three placebo-controlled studies.
[object Object], [object Object], [object Object] et al. · Pediatr Nephrol · 2021
Skin microvascular dysfunction as an early cardiovascular marker in primary hyperoxaluria type I.
[object Object], [object Object], [object Object] et al. · Pediatr Nephrol · 2019
PMID: 30276532RCT
Current status of primary hyperoxaluria type 1 in Japan.
[object Object], [object Object], [object Object] et al. · Urolithiasis · 2026
Effect of the allelic background on the phenotype of primary hyperoxaluria type I.
[object Object], [object Object], [object Object] · Curr Opin Nephrol Hypertens · 2025
Human glyoxylate metabolism revisited: New insights pointing to multi-organ involvement with implications for siRNA-based therapies in primary hyperoxaluria.
[object Object], [object Object], [object Object] et al. · J Inherit Metab Dis · 2025
Search all PubMed articles for Primary hyperoxaluria
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Calcium oxalate kidney stones
Very frequent (80-99%)HP:0008672
Hyperoxaluria
Very frequent (80-99%)HP:0003159
Abnormal dental pulp morphology
Frequent (30-79%)HP:0006479
Aciduria
Frequent (30-79%)HP:0012072
Aplasia of tooth root
Frequent (30-79%)HP:0011072
Arterial occlusion
Frequent (30-79%)HP:0025324
Blood in urine
Frequent (30-79%)HP:0000790
Bone pain
Frequent (30-79%)HP:0002653
Choroidal neovascular membrane
Frequent (30-79%)HP:0011506
Death of body tissue due to lack of blood flow or infection
Frequent (30-79%)HP:0100758
Decreased visual acuity
Frequent (30-79%)HP:0007663
Dental anomalies
Frequent (30-79%)HP:0000164
Elevated serum transaminases
Frequent (30-79%)HP:0002910
Elevated urine glycolate
Frequent (30-79%)HP:0031981
Heart block
Frequent (30-79%)HP:0012722
Increased bone density in skeletal bones
Frequent (30-79%)HP:0005789
Increased calcium level in kidney
Frequent (30-79%)HP:0000121
Increased fracture rate
Frequent (30-79%)HP:0002757
Intermittent claudication
Frequent (30-79%)HP:0004417
Metabolic acidosis
Frequent (30-79%)HP:0001942
Neuropathy
Frequent (30-79%)HP:0009830
Noninflammatory retina disease
Frequent (30-79%)HP:0000488
Optic atrophy
Frequent (30-79%)HP:0000648
Optic disc pallor
Frequent (30-79%)HP:0000543
Progressive renal failure
Frequent (30-79%)HP:0012622
Raynaud disease
Frequent (30-79%)HP:0030880
Undergrowth
Frequent (30-79%)HP:0001508
End-stage renal disease
Occasional (5-29%)HP:0003774
Hypercalciuria
Occasional (5-29%)HP:0002150
Persistent blue colour of hands or feet
Occasional (5-29%)HP:0001063
Related Conditions
Primary hyperoxaluria, type II(child)
Primary hyperoxaluria, type I(child)
Primary hyperoxaluria type 3(child)
Inborn error of metabolism(parent)
Metabolic renal disease(parent)
Disorder of carbohydrate metabolism(parent)
Recessive hereditary disorder (autosomal)(parent)
Enzymopathy(parent)
Hereditary nephropathy(parent)
Quick Facts
- SNOMED CT
- 17901006
- UMLS CUI
- C0020501
- Fully Specified Name
- Primary hyperoxaluria (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.