autosomal dominant distal renal tubular acidosis
MONDO:0008368Mondo
Findings
No curated finding names autosomal dominant distal renal tubular acidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
7 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.
- Impaired urinary acidificationHPOHP:0031033
- 17 of 17 reported patients
- NephrocalcinosisHPOHP:0000121
- 13 of 18 reported patients
- Kidney stoneHPOHP:0000787
- 10 of 18 reported patients
- HypokalemiaHPOHP:0002900
- 5 of 18 reported patients
- Elevated circulating creatinine concentrationHPOHP:0003259
- 1 of 18 reported patients
- OsteomalaciaHPOHP:0002749
- 1 of 18 reported patients
- Distal renal tubular acidosisHPOHP:0008341
Genes
3 genes
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.
- ATP6V1B1HGNC:853
- Definitive · Natera · Autosomal dominant · 2025
- SLC4A1HGNC:11027
- Definitive · Natera · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2020
- Strong · G2P · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
- SLC4A3HGNC:11029
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
7 names
Resolves to: autosomal dominant distal renal tubular acidosis
- Also called
- AD dRTAdistal renal tubular acidosis (disease), autosomal dominantDRTA1renal tubular acidosis, distal 1RTA, classic typeRTA, distal type, autosomal dominantRTA, gradient type