proximal renal tubular acidosis
MONDO:0008369Mondo
Findings
No curated finding names proximal renal tubular acidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.
Definition from the Mondo Disease Ontology (MONDO:0008369), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
39 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.
- Hyperchloremic acidosisHPOHP:0001995
- 9 of 9 reported patients
- Proximal renal tubular acidosisHPOHP:0002049
- 9 of 9 reported patients
- Short statureHPOHP:0004322
- 9 of 9 reported patients
- Very rare (1% to 4% of cases)
- Bicarbonate-wasting renal tubular acidosisHPOHP:0004910
- Very frequent (80% to 99% of cases)
- Hyperchloremic metabolic acidosisHPOHP:0004918
- Very frequent (80% to 99% of cases)
- BicarbonaturiaHPOHP:0003646
- Frequent (30% to 79% of cases)
Show the remaining 27
- AminoaciduriaHPOHP:0003355
- Occasional (5% to 29% of cases)
- Band keratopathyHPOHP:0000585
- Occasional (5% to 29% of cases)
- CataractHPOHP:0000518
- Occasional (5% to 29% of cases)
- DehydrationHPOHP:0001944
- Occasional (5% to 29% of cases)
- DiarrheaHPOHP:0002014
- Occasional (5% to 29% of cases)
- Enamel hypomineralizationHPOHP:0006285
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
4 names
Resolves to: proximal renal tubular acidosis
- Also called
- pRTArenal tubular acidosis type 2Type 2 renal tubular acidosisType 2 RTA