renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
MONDO:0011268Mondo
Findings
No curated finding names renal tubular acidosis, distal, 3, with or without sensorineural hearing loss yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
11 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.
- Distal renal tubular acidosisHPOHP:0008341
- Obligate (100% of cases)
- HypokalemiaHPOHP:0002900
- 25 of 27 reported patients
- NephrocalcinosisHPOHP:0000121
- 19 of 21 reported patients
- HypercalciuriaHPOHP:0002150
- 7 of 9 reported patients
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- 9 of 23 reported patients · Childhood onset
- RicketsHPOHP:0002748
- 2 of 9 reported patients
- DehydrationHPOHP:0001944
- Failure to thriveHPOHP:0001508
- Growth delayHPOHP:0001510
- Metabolic acidosisHPOHP:0001942
- VomitingHPOHP:0002013
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.
- ATP6V0A4HGNC:866
- Definitive · Natera · Autosomal recessive · 2024
- Strong · Ambry Genetics · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
6 names
Resolves to: renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
- Also called
- classical distal renal tubular acidosisclassical distal RTAdistal renal tubular acidosis 3, with or without sensorineural hearing lossrenal tubular acidosis, distal, autosomal recessivetype 1 renal tubular acidosistype 1 RTA