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ENMethemoglobinemia and Ambiguous Genitalia (METAG)
Alias:
Methemoglobinemia Type Iv
Metag
Methemoglobinemia Due to Deficiency of Cytochrome B5
Isolated 17,20-Lyase Deficiency, Pure
Methemoglobinemia Type 4
Methemoglobinemia Due to Deficiency of Cytochrome B5, Formerly
Pure Isolated 17,20-Lyase Deficiency
Methemoglobinemia Type Iv, Formerly
Methemoglobinemia, Type Iv
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Methemoglobinemia and Ambiguous Genitalia, also known as methemoglobinemia type iv, is related to humeroradial synostosis and congenital methemoglobinemia. An important gene associated with Methemoglobinemia and Ambiguous Genitalia is CYB5A (Cytochrome B5 Type A), and among its related pathways/superpathways are Oxidation by cytochrome P450 and Erythrocytes take up carbon dioxide and release oxygen. Related phenotypes are bifid scrotum and ambiguous genitalia
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MALACARDS
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