distal renal tubular acidosis
Findings
No curated finding names distal renal tubular acidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A kidney disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. Primary distal renal tubular acidosis is often associated with hypokalemia whereas acquired form may be associated with hypokalemia, hyperkalemia or normokalemia.
Definition from the Mondo Disease Ontology (MONDO:0015827), read 2026-09-29. CC BY 4.0.
Features
38 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.
- Alkaline urineHPOHP:0032944
- Very frequent (80% to 99% of cases)
- Chronic metabolic acidosisHPOHP:0001996
- Very frequent (80% to 99% of cases)
- Decreased serum bicarbonate concentrationHPOHP:0032066
- Very frequent (80% to 99% of cases)
- Hyperchloremic metabolic acidosisHPOHP:0004918
- Very frequent (80% to 99% of cases)
- HypocitraturiaHPOHP:0012405
- Very frequent (80% to 99% of cases)
- HypokalemiaHPOHP:0002900
- Very frequent (80% to 99% of cases)
- NephrocalcinosisHPOHP:0000121
- Very frequent (80% to 99% of cases)
- Reduced bone mineral densityHPOHP:0004349
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- HypercalciuriaHPOHP:0002150
- Frequent (30% to 79% of cases)
- HypermagnesiuriaHPOHP:0012608
- Frequent (30% to 79% of cases)
Show the remaining 26
- HyperphosphaturiaHPOHP:0003109
- Frequent (30% to 79% of cases)
- Kidney stoneHPOHP:0000787
- Frequent (30% to 79% of cases)
- Muscle weaknessHPOHP:0001324
- Frequent (30% to 79% of cases)
- Renal potassium wastingHPOHP:0000128
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- AminoaciduriaHPOHP:0003355
- 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.
- ATP6V1C2HGNC:18264
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
6 names
Resolves to: distal renal tubular acidosis
- Also called
- classic RTAdistal renal tubular acidosis (disease)dRTAfamilial distal primary acidosisPrimary Distal Renal Tubular Acidosisrenal tubular acidosis type 1