Dent disease
MONDO:0015612Mondo
Findings
No curated finding names Dent disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.
Definition from the Mondo Disease Ontology (MONDO:0015612), read 2026-09-29. CC BY 4.0.
Features
40 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.
- AminoaciduriaHPOHP:0003355
- Very frequent (80% to 99% of cases)
- Chronic kidney diseaseHPOHP:0012622
- Very frequent (80% to 99% of cases)
- Elevated circulating calcitriol concentrationHPOHP:0031415
- Very frequent (80% to 99% of cases)
- Focal segmental glomerulosclerosisHPOHP:0000097
- Very frequent (80% to 99% of cases)
- GlycosuriaHPOHP:0003076
- Very frequent (80% to 99% of cases)
- HematuriaHPOHP:0000790
- Very frequent (80% to 99% of cases)
- HypercalciuriaHPOHP:0002150
- Very frequent (80% to 99% of cases)
- HyperphosphaturiaHPOHP:0003109
- Very frequent (80% to 99% of cases)
- HyperuricosuriaHPOHP:0003149
- Very frequent (80% to 99% of cases)
- Kidney stoneHPOHP:0000787
- Very frequent (80% to 99% of cases)
- Low-molecular-weight proteinuriaHPOHP:0003126
- Very frequent (80% to 99% of cases)
- Non-acidotic proximal tubulopathyHPOHP:0005574
- Very frequent (80% to 99% of cases)
Show the remaining 28
- ProteinuriaHPOHP:0000093
- Very frequent (80% to 99% of cases)
- Proximal tubulopathyHPOHP:0000114
- Very frequent (80% to 99% of cases)
- Recurrent fracturesHPOHP:0002757
- Very frequent (80% to 99% of cases)
- Renal hypophosphatemiaHPOHP:0008732
- Very frequent (80% to 99% of cases)
- Renal insufficiencyHPOHP:0000083
- Very frequent (80% to 99% of cases)
- Renal phosphate wastingHPOHP:0000117
- Very frequent (80% to 99% of cases)
Where it sits
- Narrower terms (2)
Other names
6 names
Resolves to: Dent disease
- Also called
- Dent syndromelow-molecular-weight proteinuria with hypercalciuria and nephrocalcinosisrenal Fanconi syndrome with nephrocalcinosis and renal stonesX-linked recessive hypercalciuric hypophosphatemic ricketsX-linked recessive hypophosphatemic ricketsX-linked recessive nephrolithiasis