Pyruvate kinase deficiency (Q3043149)

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congenital nonspherocytic hemolytic anemia that has material basis in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22
  • pyruvate kinase deficiency of red cells
  • hemolytic anemia due to red cell pyruvate kinase deficiency
  • PK deficiency
  • pyruvate kinase deficiency of erythrocyte
  • Pyruvate kinase deficiency of erythrocytes
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Language Label Description Also known as
English
Pyruvate kinase deficiency
congenital nonspherocytic hemolytic anemia that has material basis in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22
  • pyruvate kinase deficiency of red cells
  • hemolytic anemia due to red cell pyruvate kinase deficiency
  • PK deficiency
  • pyruvate kinase deficiency of erythrocyte
  • Pyruvate kinase deficiency of erythrocytes

Statements

Identifiers

MONDO:0009950
 
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