| Disease ID | Source | Name | Description |
| 266200 | OMIM | Pyruvate kinase deficiency of red cells (PKRD) | A frequent cause of hereditary non-spherocytic hemolytic anemia. Clinically, pyruvate kinase-deficient patients suffer from a highly variable degree of chronic hemolysis, ranging from severe neonatal jaundice and fatal anemia at birth, severe transfusion-dependent chronic hemolysis, moderate hemolysis with exacerbation during infection, to a fully compensated hemolysis without apparent anemia. The disease is caused by variants affecting the gene represented in this entry. |
| 102900 | OMIM | Pyruvate kinase hyperactivity (PKHYP) | Autosomal dominant phenotype characterized by increase of red blood cell ATP. The disease is caused by variants affecting the gene represented in this entry. |