Details of Disease

General Information of Disease (ID: DISYJ2T2)

Disease Name Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Synonyms
class I glucose-6-phosphate dehydrogenase deficiency; Class I G6PD deficiency; hemolytic anemia, G6PD deficient (favism), X-linked dominant; severe hemolytic anemia due to G6PD deficiency; anemia, nonspherocytic hemolytic, due to G6PD deficiency; hemolytic anemia due to G6PD deficiency; severe hemolytic anaemia due to G6PD deficiency; hemolytic anaemia due to G6PD deficiency
Definition
An X-linked genetic condition caused by alterations in the gene G6PD that result in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous G6PD variants associated with CNSHA have CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.
Disease Hierarchy
DISR5M3F: Inborn disorder of pentose phosphate metabolism
DIS0Y78V: Anemia due to erythrocyte enzyme disorder
DIS3GSDJ: Anemia, nonspherocytic hemolytic
DISYJ2T2: Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Disease Identifiers
MONDO ID
MONDO_0010480
UMLS CUI
C2720289
OMIM ID
300908
MedGen ID
403555
Orphanet ID
466026

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
G6PD TTKN8W0 Strong Genetic Variation [1]
G6PD TTKN8W0 Definitive X-linked [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IKBKG OTNWJWSD Strong CausalMutation [3]
G6PD OT300SMK Definitive X-linked [2]
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References

1 A Novel G6PD p. Gly 321 Val Mutation Causing Severe Hemolysis in an Indian Infant.Indian J Hematol Blood Transfus. 2019 Apr;35(2):399-401. doi: 10.1007/s12288-018-1049-3. Epub 2018 Dec 6.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3 Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates.Sci Rep. 2018 Jan 16;8(1):833. doi: 10.1038/s41598-017-17667-6.