G6PD deficiency
Findings
No curated finding names G6PD deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An X-linked genetic condition caused by alterations in the gene G6PD that result in moderately to severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Most individuals with G6PD deficiency are asymptomatic throughout their life. Individuals with G6PD variants that cause G6PD deficiency are at risk for severe neonatal jaundice. These individuals are also at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.
Definition from the Mondo Disease Ontology (MONDO:0005775), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- G6PDHGNC:4057
- Definitive · ClinGen · X-linked · 2023
Where it sits
Other names
8 names
Resolves to: G6PD deficiency
- Also called
- G-6-PD variant enzyme deficiency AnaemiaG-6-PD variant enzyme deficiency AnemiaG6PDglucose-6-phosphate dehydrogenase deficiencyglucosephosphate dehydrogenase deficiencyinborn error of glucose-6-phosphate dehydrogenase activityinborn glucose-6-phosphate dehydrogenase activity disorderrare inborn error of glucose-6-phosphate dehydrogenase activity