Symbol
Name
ID

Pklr
pyruvate kinase liver and red blood cell
MGI:97604

Phenotype annotations related to homeostasis/metabolism

Darker colors indicate more annotations

Human Phenotypes

Polyclonal elevation of IgM

Increased circulating antibody level

Reduced red cell pyruvate kinase level

Abnormality of metabolism/homeostasis

Increased circulating iron concentration

Elevated transferrin saturation

Hyperbilirubinemia

Unconjugated hyperbilirubinemia

Decreased HDL cholesterol concentration

Elevated circulating C-reactive protein concentration

Increased circulating ferritin concentration

Decreased glucose-6-phosphate dehydrogenase level in blood

Reduced haptoglobin level

Decreased glucosephosphate isomerase level

Type II diabetes mellitus

Insulin resistance

Hydrops fetalis

Nonimmune hydrops fetalis

Fever

Hematuria

Elevated urinary delta-aminolevulinic acid

Proteinuria

Hemoglobinuria

Aortic valve calcification

Mitral valve calcification

Disease(s) Associated with PKLR

congenital nonspherocytic hemolytic anemia

Gaucher's disease

malaria

pyruvate kinase deficiency of red cells

type 2 diabetes mellitus

Mouse Phenotypes		increased circulating bilirubin level	hemosiderosis	decreased saturated fatty acids level	abnormal sphingomyelin level	decreased ceramide level	abnormal metabolism	abnormal enzyme/coenzyme activity
Availability	Mouse Genotype	increased circulating bilirubin level	hemosiderosis	decreased saturated fatty acids level	abnormal sphingomyelin level	decreased ceramide level	abnormal metabolism	abnormal enzyme/coenzyme activity
	Pklr^em1Appsc/Pklr^em1Appsc
	Pklr^slc/Pklr^slc

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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