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MIRAGE
congenital nonspherocytic hemolytic anemia 2
Summary
- Synonym
-
- PK deficiency
- Red cell pyruvate kinase deficiency
- hemolytic anemia due to red cell pyruvate kinase deficiency
- pyruvate kinase deficiency of erythrocyte
- pyruvate kinase deficiency of red cells
- 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
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P30613 | Pyruvate kinase PKLR |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P53657 | Pyruvate kinase PKLR |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001744 | Splenomegaly |
| HP:0001789 | Hydrops fetalis |
| HP:0011273 | Anisocytosis |
| HP:0001903 | Anemia |
| HP:0006579 | Prolonged neonatal jaundice |
| HP:0004804 | Congenital hemolytic anemia |
| HP:0012463 | Elevated transferrin saturation |
| HP:0004447 | Poikilocytosis |
| HP:0003281 | Increased circulating ferritin concentration |
| HP:0001877 | Abnormal erythrocyte morphology |
