Details of Disease | DrugMAP

General Information of Disease (ID: DISGMVWE)

Disease Name	Hemoglobin M disease
Synonyms	blue baby syndrome; hereditary methemoglobinemia due to haemoglobin mutation; methemoglobinemia, beta-globin type; autosomal dominant methemoglobinemia; hereditary methemoglobinemia due to hemoglobin mutation; M hemoglobinopathy; methemoglobinemia, beta type
Disease Hierarchy	DIS4XNEP: Hereditary methemoglobinemia DISGMVWE: Hemoglobin M disease
Disease Identifiers	MONDO ID MONDO_0018023 MESH ID C581942 UMLS CUI C3665425 MedGen ID 777099 Orphanet ID 330041 SNOMED CT ID 74912001

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
HBA2	TTQO71U	Supportive	Autosomal dominant	[1]
HBB	TTM6HK1	Strong	GermlineCausalMutation	[1]
HBA2	TTQO71U	Definitive	GermlineCausalMutation	[2]
HBB	TTM6HK1	Definitive	Autosomal dominant	[3]
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This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYB5A	DE9A2LB	Limited	Genetic Variation	[4]
CYB5R3	DE4A3BL	moderate	Genetic Variation	[5]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HBA2	OTW2BQF4	Supportive	Autosomal dominant	[1]
HBB	OT514IKQ	Definitive	Autosomal dominant	[3]
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References

1	Concise review: methemoglobinemia. Am J Hematol. 1993 Jan;42(1):7-12. doi: 10.1002/ajh.2830420104.
2	De novo alpha 2 hemoglobin gene (HBA2) mutation in a child with hemoglobin M Iwate and symptomatic methemoglobinemia since birth.Rev Bras Hematol Hemoter. 2014 May-Jun;36(3):230-4. doi: 10.1016/j.bjhh.2014.03.020. Epub 2014 Mar 29.
3	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.
4	A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism.Hum Genet. 1994 May;93(5):568-70. doi: 10.1007/BF00202825.
5	A novel L218P mutation in NADH-cytochrome b5 reductase associated with type I recessive congenital methemoglobinemia.Pediatr Hematol Oncol. 2009 Jul-Aug;26(5):381-5. doi: 10.1080/08880010902979233.