Details of Disease | DrugMAP

General Information of Disease (ID: DISEWENH)

Disease Name	Methemoglobinemia
Synonyms	methemoglobinemias
Definition	An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood.
Disease Hierarchy	DISCT4GX: Hemoglobinopathy DISEWENH: Methemoglobinemia
Disease Identifiers	MONDO ID MONDO_0001117 MESH ID D008708 UMLS CUI C0025637 MedGen ID 6339 HPO ID HP:0012119 SNOMED CT ID 38959009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HBB	TTM6HK1	Limited	Biomarker	[1]
G6PD	TTKN8W0	Disputed	Genetic Variation	[2]
CYP1A2	TTS1DTU	Strong	Biomarker	[3]
G6PC	TTBQMJ8	Strong	Genetic Variation	[4]
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This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYB5R3	DE4A3BL	Strong	Genetic Variation	[5]
CYB5R3	DE4A3BL	Definitive	Autosomal recessive	[6]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DLD	OT378CU9	Strong	Biomarker	[7]
HBA1	OTW2BQF4	Strong	Biomarker	[8]
CYB5R3	OTUGT3G8	Definitive	Autosomal recessive	[6]
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References

1	Genome Editing for the -Hemoglobinopathies.Adv Exp Med Biol. 2017;1013:203-217. doi: 10.1007/978-1-4939-7299-9_8.
2	Concordance between glucose-6-phosphate dehydrogenase (G6PD) genotype and phenotype and rasburicase use in patients with hematologic malignancies.Pharmacogenomics J. 2019 Jun;19(3):305-314. doi: 10.1038/s41397-018-0043-3. Epub 2018 Sep 12.
3	Decrease in 4-aminobiphenyl-induced methemoglobinemia in Cyp1a2(-/-) knockout mice.Toxicol Appl Pharmacol. 2002 May 15;181(1):32-7. doi: 10.1006/taap.2002.9398.
4	Severe hemolysis and methemoglobinemia following fava beans ingestion in glucose-6-phosphatase dehydrogenase deficiency: case report and literature review.Eur J Pediatr. 2009 Jul;168(7):779-82. doi: 10.1007/s00431-009-0952-x. Epub 2009 Mar 5.
5	NADH-cytochrome b5 reductase in a Turkish family with recessive congenital methaemoglobinaemia type I. J Clin Pathol. 2008 Oct;61(10):1122-3. doi: 10.1136/jcp.2008.058701.
6	Serine-proline replacement at residue 127 of NADH-cytochrome b5 reductase causes hereditary methemoglobinemia, generalized type. Blood. 1990 Apr 1;75(7):1408-13.
7	NADH-diaphorase deficiency identified in a patient with congenital methaemoglobinaemia detected by pulse oximetry.Intensive Care Med. 1998 Jul;24(7):706-8. doi: 10.1007/s001340050648.
8	Hemoglobin M Iwate is caused by a C----T transition in codon 87 of the human alpha 1-globin gene.Hum Genet. 1987 Jan;75(1):53-5. doi: 10.1007/BF00273839.