Details of Disease

General Information of Disease (ID: DISYF1GO)

• Disease Name: G6PD deficiency
• Synonyms: glucose-6-phosphate dehydrogenase deficiency; inborn error of glucose-6-phosphate dehydrogenase activity; deficiency of G-6PD; rare inborn error of glucose-6-phosphate dehydrogenase activity; glucosephosphate dehydrogenase deficiency; inborn glucose-6-phosphate dehydrogenase activity disorder; G-6-PD variant enzyme deficiency Anaemia; G6PD; G6PD deficiency; G-6-PD variant enzyme deficiency Anemia
• 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. Individuals with G6PD variants that cause G6PD deficiency are at risk for 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.
• Disease Hierarchy:
  DISO5FAY: Inborn error of metabolism
  DISV24X3: Carbohydrate metabolism disorder
  DISYF1GO: G6PD deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0005775
  MESH ID: D005955
  UMLS CUI: C2939465
  MedGen ID: 473706
  SNOMED CT ID: 124134002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HBA2	TTQO71U	Strong	Genetic Variation	[1]
MTM1	TTY2TCU	Strong	Biomarker	[2]
SLCO1B1	TTFGXEB	Strong	Genetic Variation	[3]
TKT	TT04R7I	Strong	Biomarker	[4]
UGT1A1	TT34ZAF	Strong	Genetic Variation	[5]
G6PD	TTKN8W0	Definitive	X-linked	[6]

This Disease Is Related to 6 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ABO	DESIA7R	Strong	Genetic Variation	[7]
UGT1A10	DEL5N6Y	Strong	Genetic Variation	[3]
UGT1A4	DELOY3P	Strong	Genetic Variation	[3]
UGT1A6	DESD26P	Strong	Genetic Variation	[3]
UGT1A7	DEZO4N3	Strong	Genetic Variation	[3]
UGT1A8	DE2GB8N	Strong	Genetic Variation	[3]

This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RABEP2	OTO61X27	Limited	Biomarker	[8]
DECR1	OTCDIR6X	moderate	Biomarker	[9]
C5AR2	OTP1Q82J	Strong	Genetic Variation	[10]
CA10	OTC3N1F6	Strong	Genetic Variation	[11]
GYPB	OTESHUIX	Strong	Biomarker	[12]
GYPE	OTBHAG6A	Strong	Biomarker	[12]
HBG2	OT4J48JJ	Strong	Biomarker	[13]
NDUFAB1	OTF906UR	Strong	Genetic Variation	[14]
PRB1	OTV0SYMD	Strong	Biomarker	[15]
G6PD	OT300SMK	Definitive	X-linked	[6]

References

• [1] Realizing effectiveness across continents with hydroxyurea: Enrollment and baseline characteristics of the multicenter REACH study in Sub-Saharan Africa.Am J Hematol. 2018 Aug;93(4):537-545. doi: 10.1002/ajh.25034. Epub 2018 Jan 27.
• [2] X-linked centronuclear myopathy: mapping the gene to Xq28.Neuromuscul Disord. 1991;1(4):239-45. doi: 10.1016/0960-8966(91)90096-b.
• [3] Risk assessment of gene variants for neonatal hyperbilirubinemia in Taiwan.BMC Pediatr. 2016 Aug 24;16(1):144. doi: 10.1186/s12887-016-0685-8.
• [4] Metabolic reprogramming and redox adaptation in sorafenib-resistant leukemia cells: detected by untargeted metabolomics and stable isotope tracing analysis.Cancer Commun (Lond). 2019 Apr 4;39(1):17. doi: 10.1186/s40880-019-0362-z.
• [5] Clinical Significance of UGT1A1 Genetic Analysis in Chinese Neonates with Severe Hyperbilirubinemia.Pediatr Neonatol. 2016 Aug;57(4):310-7. doi: 10.1016/j.pedneo.2015.08.008. Epub 2015 Dec 2.
• [6] 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.
• [7] USP38, FREM3, SDC1, DDC, and LOC727982 Gene Polymorphisms and Differential Susceptibility to Severe Malaria in Tanzania.J Infect Dis. 2015 Oct 1;212(7):1129-39. doi: 10.1093/infdis/jiv192. Epub 2015 Mar 24.
• [8] Mental retardation in heterozygotes for the fragile-X mutation: evidence in favor of an X inactivation-dependent effect.Am J Hum Genet. 1990 Apr;46(4):738-43.
• [9] Frequency of glucose-6-phosphate dehydrogenase deficiency in malaria patients from six African countries enrolled in two randomized anti-malarial clinical trials.Malar J. 2011 Aug 17;10:241. doi: 10.1186/1475-2875-10-241.
• [10] Genetic polymorphisms in paraoxonase 1 and G protein-coupled receptor 77, and the risk of glucose-6-phosphate dehydrogenase deficiency in a Saudi population.Saudi Med J. 2015 May;36(5):544-8. doi: 10.15537/smj.2015.5.11860.
• [11] G6PD (AC)n and (CTT)n microsatellites in Mexican Mestizos with common G6PD African variants.Blood Cells Mol Dis. 2007 May-Jun;38(3):238-41. doi: 10.1016/j.bcmd.2006.11.005. Epub 2007 Jan 12.
• [12] Blood groups and types, hemoglobin variants, and G-6-PD deficiency among Abu Dhabians in the United Arab Emirates.Am J Phys Anthropol. 1980 May;52(4):481-4. doi: 10.1002/ajpa.1330520404.
• [13] Glucose-6-phosphate dehydrogenase red blood cell phenotype in GdMediterranean heterozygous females and hemizygous males at birth.Pediatr Res. 1981 Nov;15(11):1443-6. doi: 10.1203/00006450-198111000-00012.
• [14] Association between ACP(1) genetic polymorphism and favism.Genet Mol Res. 2011 May 17;10(2):878-84. doi: 10.4238/vol10-2gmr1062.
• [15] Prevalence of G6PD deficiency in selected populations from two previously high malaria endemic areas of Sri Lanka.PLoS One. 2017 Feb 2;12(2):e0171208. doi: 10.1371/journal.pone.0171208. eCollection 2017.