renal tubular acidosis, distal, 4, with hemolytic anemia
Findings
No curated finding names renal tubular acidosis, distal, 4, with hemolytic anemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia.
Definition from the Mondo Disease Ontology (MONDO:0012700), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
5 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
- Failure to thriveHPOHP:0001508
- Metabolic acidosisHPOHP:0001942
- NephrocalcinosisHPOHP:0000121
- RicketsHPOHP:0002748
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.
- SLC4A1HGNC:11027
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: renal tubular acidosis, distal, 4, with hemolytic anemia
- Also called
- distal renal tubular acidosis 4 with hemolytic anaemiadistal renal tubular acidosis 4 with hemolytic anemiadistal renal tubular acidosis with anaemiadistal renal tubular acidosis with anemiadRTA with anaemiadRTA with anemia