autosomal recessive distal renal tubular acidosis
MONDO:0018440Mondo
Findings
No curated finding names autosomal recessive distal renal tubular acidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The autosomal recessive form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.
Definition from the Mondo Disease Ontology (MONDO:0018440), read 2026-09-29. CC BY 4.0.
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.
Where it sits
Other names
4 names
Resolves to: autosomal recessive distal renal tubular acidosis
- Also called
- AR dRTAautosomal recessive distal renal tubular acidosis (disease)autosomal recessive distal RTAdistal renal tubular acidosis (disease), autosomal recessive