| Gene | Gene location | Protein | Features | |
| Type 1 (distal) RTA | ||||
| Autosomal recessive with deafness | ATP6V1B1 | 2p13 | B1 subunit of H-ATPase | Presents in infancy with severe metabolic acidosis, poor growth, rickets, and nephrocalcinosis. |
| FOXI1 | 5q35 | FOXI1 | Presents with metabolic acidosis, nephrocalcinosis, and development of medullary cysts. | |
| Autosomal recessive without deafness | ATP6V0A4 | 7q33-q34 | A4 subunit of H-ATPase | Presents in infancy with severe metabolic acidosis, poor growth, rickets, and nephrocalcinosis. |
| WDR72 | 15q21 | WDR72 | Poor growth, some individuals with abnormal tooth enamel formation (amelogenesis imperfecta). | |
| Autosomal dominant | SLC4A1 | 17q21-q22 | Chloride-bicarbonate exchanger | Presents later in life (eg, adolescence and adulthood) with mild/moderate metabolic acidosis, hypercalciuria, nephrolithiasis or nephrocalcinosis, osteomalacia, and erythrocytosis; may be associated with hereditary spherocytosis and ovalocytosis. |
| Type 2 (proximal) RTA | ||||
| Autosomal recessive | SLC4A4 | 4q21 | Sodium bicarbonate cotransporter | Severe hypokalemic, hyperchloremic, metabolic acidosis, growth retardation, and ocular abnormalities (glaucoma, cataracts, and band keratopathy). |
| Autosomal dominant | Unknown | Unknown | Unknown | Short stature and metabolic acidosis. |
| Type 3 (mixed) RTA | ||||
| Autosomal recessive | Carbonic anhydrase II | 8q22 | Carbonic anhydrase II | Mixed RTA, osteopetrosis, cerebral calcification, and mental retardation. |
