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
Displaying all 3 entries
Gene ID Gene Symbol Description Source
2539 G6PD glucose-6-phosphate dehydrogenase
3098 HK1 hexokinase 1
5313 PKLR pyruvate kinase L/R
Displaying 1 entry
Gene ID Gene Symbol Description Source
24651 Pklr pyruvate kinase L/R
Displaying 1 entry
Gene ID Gene Symbol Description Source
42620 PyK Pyruvate kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
854529 PYK2 pyruvate kinase PYK2
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 26 in total
HPO ID HPO Term
HP:0004447 Poikilocytosis
HP:0001903 Anemia
HP:0008282 Unconjugated hyperbilirubinemia
HP:0001789 Hydrops fetalis
HP:0004870 Chronic hemolytic anemia
HP:0012463 Elevated transferrin saturation
HP:0003281 Increased circulating ferritin concentration
HP:0001744 Splenomegaly
HP:0003452 Increased circulating iron concentration
HP:0006579 Prolonged neonatal jaundice
Displaying 1 entry
Gene ID Gene Symbol Description
5313 PKLR pyruvate kinase L/R

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024