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GTR Home > Conditions/Phenotypes > Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

Synonyms
PGK1 DEFICIENCY; Phosphoglycerate kinase 1 deficiency
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006). [from OMIM]

Available tests

71 tests are in the database for this condition.

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Clinical tests (71 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HEL-S-68p, MIG10, PGKA, PGK1
    Summary: phosphoglycerate kinase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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