autosomal recessive proximal renal tubular acidosis
Findings
No curated finding names autosomal recessive proximal renal tubular acidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features.
Definition from the Mondo Disease Ontology (MONDO:0011422), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset · Early young adult onset
HPO, annotations 2026-09-02
Features
14 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.
- Band keratopathyHPOHP:0000585
- 3 of 3 reported patients
- Bicarbonate-wasting renal tubular acidosisHPOHP:0004910
- 2 of 2 reported patients
- CataractHPOHP:0000518
- 3 of 3 reported patients
- Cerebral calcificationHPOHP:0002514
- 1 of 1 reported patient
- Decreased serum bicarbonate concentrationHPOHP:0032066
- 1 of 1 reported patient
- GlaucomaHPOHP:0000501
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.
- SLC4A4HGNC:11030
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Ambry Genetics · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: autosomal recessive proximal renal tubular acidosis
- Also called
- AR pRTAproximal renal tubular acidosis with ocular abnormalities and intellectual disabilityproximal renal tubular acidosis, autosomal recessiverenal tubular acidosis, proximal, with ocular abnormalities