glucosephosphate dehydrogenase deficiency

Summary
Synonym
  • Glucose-6-phosphate dehydrogenase deficiency
  • deficiency of G-6PD
Definition
A carbohydrate metabolic disorder that is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH).
Super Class
carbohydrate metabolic disorder
External Links
Disease Ontology
DOID:2862
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
Related Genes
Displaying entries 31 - 40 of 63 in total
Gene ID Gene Symbol Description Source
4051 CYP4F3 cytochrome P450 family 4 subfamily F member 3
4245 MGAT1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
4534 MTM1 myotubularin 1
4706 NDUFAB1 NADH:ubiquinone oxidoreductase subunit AB1
5211 PFKL phosphofructokinase, liver type
5213 PFKM phosphofructokinase, muscle
5224 PGAM2 phosphoglycerate mutase 2
5230 PGK1 phosphoglycerate kinase 1
5236 PGM1 phosphoglucomutase 1
5836 PYGL glycogen phosphorylase L

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024