pyruvate kinase deficiency
congenital nonspherocytic hemolytic anemia that has material basis in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22
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pyruvate kinase deficiency
Summary
pyruvate kinase deficiency is a rare disease[1]. It has Wikipedia articles in 6 language editions, a strong signal of global cultural recognition.[2]
Key Facts
- pyruvate kinase deficiency's instance of is recorded as rare disease[3].
- pyruvate kinase deficiency's instance of is recorded as class of disease[4].
- pyruvate kinase deficiency is a type of congenital nonspherocytic hemolytic anemia[5].
- pyruvate kinase deficiency is a type of hemolytic anemia due to a disorder of glycolytic enzymes[6].
- pyruvate kinase deficiency is a type of disorder of glycolysis[7].
- pyruvate kinase deficiency is a type of genetic disease[8].
- pyruvate kinase deficiency is a type of autosomal recessive disease[9].
- pyruvate kinase deficiency's NCI Thesaurus ID is recorded as C99037[10].
- pyruvate kinase deficiency's health specialty is recorded as hematology[11].
- pyruvate kinase deficiency's genetic association is recorded as PKLR[12].
- pyruvate kinase deficiency's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111077[13].
- pyruvate kinase deficiency's exact match is recorded as http://identifiers.org/doid/DOID:0111077[14].
- pyruvate kinase deficiency's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
Why It Matters
pyruvate kinase deficiency has Wikipedia articles in 6 language editions, a strong signal of global cultural recognition.[2] It is known by 6 alternative names across languages and contexts.[16]