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pyruvate kinase deficiency of red cells
Summary
- Synonym
-
- PK deficiency
- hemolytic anemia due to red cell pyruvate kinase deficiency
- pyruvate kinase deficiency of erythrocyte
- Definition
- A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22.
- Super Class
- autosomal recessive disease congenital nonspherocytic hemolytic anemia
External Links
- Disease Ontology
- DOID:0111077
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0005502 | Increased red cell osmotic fragility |
| HP:0001082 | Cholecystitis |
| HP:0011463 | Childhood onset |
| HP:0000980 | Pallor |
| HP:0003577 | Congenital onset |
