apparent mineralocorticoid excess syndrome

Term ID

DOID:4367

Synonyms

• 11-beta-hydroxysteroid dehydrogenase deficiency type 2
• cortisol 11-beta-ketoreductase deficiency
• syndrome of apparent mineralocorticoid excess
• Ulick syndrome

Definition

A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16. https://www.omim.org/entry/218030

References

• GARD:433
• MESH:D043204
• MIM:218030
• NCI:C123231
• ORDO:320
• SNOMEDCT_US_2023_03_01:237770005
• UMLS_CUI:C0342488

Ontology

Human Disease   ( DOID:4367 )