autosomal dominant proximal renal tubular acidosis
MONDO:0017829Mondo
Findings
No curated finding names autosomal dominant proximal renal tubular acidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications.
Definition from the Mondo Disease Ontology (MONDO:0017829), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
2 names
Resolves to: autosomal dominant proximal renal tubular acidosis
- Also called
- AD pRTAproximal renal tubular acidosis, autosomal dominant