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Deficiency of pyruvate kinase

MedGen UID:
473069
Concept ID:
C0340968
Disease or Syndrome
Synonyms: PK Deficiency; Pyruvate Kinase Deficiency; Pyruvate Kinase Deficiency of Erythrocyte; Pyruvate Kinase Deficiency of Red Cells
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: PK - Pyruvate kinase deficiency (124331002); Pyruvate kinase deficiency (124331002); Deficiency of phosphoenolpyruvate kinase (124331002); Deficiency of phosphoenol transphosphorylase (124331002); Deficiency of pyruvate kinase (124331002)
 
OMIM®: 266200; 609712
Orphanet: ORPHA766

Definition

An inherited metabolic disorder characterized by the deficiency of the erythrocyte enzyme pyruvate kinase. It results in the development of hemolytic anemia. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeficiency of pyruvate kinase

Recent clinical studies

Prognosis

Qidwai T, Jamal F, Singh S
Interdiscip Sci 2014 Jun;6(2):158-66. Epub 2014 Jun 17 doi: 10.1007/s12539-013-0025-8. PMID: 25172454

Clinical prediction guides

Qidwai T, Jamal F, Singh S
Interdiscip Sci 2014 Jun;6(2):158-66. Epub 2014 Jun 17 doi: 10.1007/s12539-013-0025-8. PMID: 25172454

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