cortisone reductase deficiency 1

Term ID

DOID:0090141

Synonyms

• CORTRD1

Definition

A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36. (2)

References

• NCI:C131849
• OMIM:604931

Ontology

Human Disease   ( DOID:0090141 )