| Disease ID | Source | Name | Description |
| 179800 | OMIM | Renal tubular acidosis, distal, autosomal dominant (AD-dRTA) | An autosomal dominant disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. The disease is caused by variants affecting the gene represented in this entry. |
| 612653 | OMIM | Spherocytosis 4 (SPH4) | Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. The disease is caused by variants affecting the gene represented in this entry. |
| 185020 | OMIM | Cryohydrocytosis (CHC) | An autosomal dominant disorder of red cell membrane permeability characterized by cold-induced changes in cell volume, resulting in cold-sensitive stomatocytosis, and increased erythrocyte osmotic fragility and autohemolysis at 4 degrees Celsius. Patients present with mild to moderate hemolytic anemia, splenomegaly, fatigue, and pseudohyperkalemia due to a potassium leak from the erythrocytes. The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. |
| 611590 | OMIM | Renal tubular acidosis, distal, with hemolytic anemia (dRTA-HA) | A disease characterized by the association of hemolytic anemia with distal renal tubular acidosis, the reduced ability to acidify urine resulting in variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. The disease is caused by variants affecting the gene represented in this entry. |
| 611590 | OMIM | Renal tubular acidosis, distal, with hemolytic anemia (dRTA-HA) | A disease characterized by the association of hemolytic anemia with distal renal tubular acidosis, the reduced ability to acidify urine resulting in variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. The disease is caused by variants affecting the gene represented in this entry. |
| 166900 | OMIM | Ovalocytosis, Southeast Asian (SAO) | A hereditary hematologic disorder characterized by ovalocytic erythrocytes that are rigid and exhibit reduced expression of many erythrocyte antigens. Clinical manifestations include mild hemolysis, intermittent jaundice and gallstones. However, the disorder is most often asymptomatic. The disease is caused by variants affecting the gene represented in this entry. |
| 130600 | OMIM | Elliptocytosis 2 (EL2) | A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape. |