Details of Disease

General Information of Disease (ID: DISHTKKG)

Disease Name Methemoglobinemia type 4
Synonyms
methemoglobinemia due to deficiency of cytochrome B5; methemoglobinemia type IV; methemoglobinemia and ambiguous genitalia; METAG; isolated 17,20-lyase deficiency, Pure; methemoglobinemia due to deficiency of cytochrome B5, formerly; methemoglobinemia type IV, formerly; methemoglobinemia type 4; CYB5A methemoglobinemia; methemoglobinemia caused by mutation in CYB5A
Definition Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene.
Disease Hierarchy
DIS4XNEP: Hereditary methemoglobinemia
DISEWENH: Methemoglobinemia
DISHTKKG: Methemoglobinemia type 4
Disease Identifiers
MONDO ID
MONDO_0009605
UMLS CUI
C4285231
OMIM ID
250790
MedGen ID
925090

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CYB5A DE9A2LB Strong Autosomal recessive [1]
CYB5A DE9A2LB Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CYB5A OT6SN4RM Strong Autosomal recessive [1]
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References

1 Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X. J Clin Endocrinol Metab. 2010 Mar;95(3):994-9. doi: 10.1210/jc.2008-1745. Epub 2010 Jan 15.
2 A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency.J Clin Endocrinol Metab. 2012 Mar;97(3):E465-75. doi: 10.1210/jc.2011-2413. Epub 2011 Dec 14.