Pyruvate kinase hyperactivity

Synonyms: Adenosine triphosphate, elevated, of erythrocytes

Summary

Elevation of red cell ATP levels is accompanied by elevated red cell pyruvate kinase activity and mild erythrocytosis. Red cell life span is slightly shortened. The patients in whom this trait was first described were asymptomatic (summary by Beutler et al., 1997). [from OMIM]

Available tests

15 tests are in the database for this condition.

Clinical tests (15 available)

Molecular Genetics Tests

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Associated genes Help
Genes reported to contribute to the condition.

PKLR
62 tests
Also known as: CNSHA2, PK1, PKL, PKRL, RPK, PKLR
Summary: pyruvate kinase L/R

Imported from Human Phenotype Ontology (HPO)

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Abnormality of blood and blood-forming tissues
- Polycythemia
  Polycythemia
  - MedGen UID: 18552
  - Concept ID: C0032461
  - Finding: Disease or Syndrome
  Abnormality of blood and blood-forming tissues
  See: Feature record | Search on this feature
- Reduced erythrocyte 2,3-diphosphoglycerate concentration
  Reduced erythrocyte 2,3-diphosphoglycerate concentration
  - MedGen UID: 868155
  - Concept ID: C4022546
  - Finding: Finding
  Abnormality of blood and blood-forming tissues
  See: Feature record | Search on this feature

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