phosphoglycerate kinase 1 deficiency

Summary
Synonym
  • GSD due to phosphoglycerate kinase 1 deficiency
  • PGK1 deficiency
  • glycogen storage disease due to phosphoglycerate kinase 1 deficiency
  • glycogenosis due to phosphoglycerate kinase 1 deficiency
Definition
A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1.
Super Class
X-linked recessive disease glucose metabolism disease
External Links
Disease Ontology
DOID:0111933
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5230 PGK1 phosphoglycerate kinase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
18655 Pgk1 phosphoglycerate kinase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
24644 Pgk1 phosphoglycerate kinase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
33461 Pgk Phosphoglycerate kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
171965 pgk-1 putative phosphoglycerate kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
850370 PGK1 phosphoglycerate kinase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 29 in total
HPO ID HPO Term
HP:0001324 Muscle weakness
HP:0003201 Rhabdomyolysis
HP:0000750 Delayed speech and language development
HP:0012638 Abnormal nervous system physiology
HP:0002076 Migraine
HP:0000556 Retinal dystrophy
HP:0002913 Myoglobinuria
HP:0001251 Ataxia
HP:0003738 Exercise-induced myalgia
HP:0001878 Hemolytic anemia
Displaying 1 entry
Gene ID Gene Symbol Description
5230 PGK1 phosphoglycerate kinase 1

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Acknowledgements

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Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024