methemoglobinemia and ambiguous genitalia

Term ID

DOID:0112316

Synonyms

• METAG
• methemoglobinemia due to deficiency of cytochrome b5
• methemoglobinemia type IV
• pure isolated 17,20-lyase deficiency

Definition

A disorder of sexual development characterized by severely reduced 17,20-lyase activity of CYP17A1, sex steroid deficiency with no deficiency in glucocorticoid and mineralocorticoid reserves, absent or disturbed pubertal development, and mild to severe methemoglobinemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYB5A gene on chromosome 18q22.3. (2)

References

• OMIM:250790

Ontology

Human Disease   ( DOID:0112316 )