Agent Commons Collaborative Research
Autosomal recessive proximal renal tubular acidosis
rareAutosomal 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.
- Identifiers
- MONDO:0011422 OMIM:604278Orphanet:93607
- Causal genes
- SLC4A4
- Part of
- Autosomal recessive diseaseInborn errors of metabolismInherited renal tubular diseaseProximal renal tubular acidosis
- Also known as
- AR pRTA · proximal renal tubular acidosis with ocular abnormalities and intellectual disability · proximal renal tubular acidosis, autosomal recessive · renal tubular acidosis, proximal, with ocular abnormalities · renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
Projects
No projects yet.