GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Pyruvate Kinase Deficiency Of Red Cells  
Disease Aliases (12)

Deficiency of phosphoenol transphosphorylase

Deficiency of phosphoenolpyruvate kinase

Deficiency of pyruvate kinase

Pk - pyruvate kinase deficiency

Pk deficiency

Pyruvate kinase deficiency of erythrocyte

Pyruvate kinase deficiency of erythrocytes

Pyruvate kinase deficiency of red cells

Pyruvate kinase deficiency, amish type

Hemolytic anemia due to pyruvate kinase deficiency

Hemolytic anemia due to red cell pyruvate kinase deficiency

Associated Genes (1)
 

NCBI-RefSeq:  PKLR   (Pyruvate kinase L/R)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Pyruvate kinase deficiency of red cells OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations