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IEMbase 0122: CYP11B1-related 11-beta-Hydroxylase superactivity

Scope

Field Value
IEMbase ID 122
Nosology 24.2.03.01
Gene CYP11B1
External IDs OMIM:103900; ORPHA:90795
Generated mapping MAPPED, high confidence
Candidate DisMech targets Familial_Hyperaldosteronism_Type_I.yaml
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents this as CYP11B1-related 11-beta-hydroxylase superactivity, with alternate labels glucocorticoid suppressible hyperaldosteronism 1 and HALD1. Treatability is marked unknown, but dexamethasone is listed as a pharmacological treatment row.

The characteristic biochemical rows are low potassium, increased urinary 18-oxocortisol, and increased aldosterone. No clinical rows are listed in the IEMbase extract.

DisMech phenotype coverage

Familial_Hyperaldosteronism_Type_I.yaml is the correct local disease target. It describes autosomal dominant primary aldosteronism caused by unequal crossover between CYP11B1 and CYP11B2, producing a chimeric CYP11B1/CYP11B2 gene in which aldosterone synthase is under ACTH-responsive CYP11B1 regulatory control.

The local phenotype and biochemical coverage includes early-onset hypertension, dexamethasone-suppressible primary hyperaldosteronism, low plasma renin activity, hypokalemia, adrenal hyperplasia, aldosterone excess, 18-oxocortisol, and 18-hydroxycortisol. Treatments include glucocorticoid suppression and mineralocorticoid receptor antagonist therapy.

Concordance and completeness

Judgement: correct standalone mapping with strong concordance.

IEMbase and DisMech agree on the key biochemical signature: aldosterone excess, hypokalemia, and elevated 18-oxocortisol. DisMech is richer for the genetic mechanism, hypertension/low-renin clinical context, hybrid steroid profile, and treatment options. IEMbase provides a compact confirmation that dexamethasone is the relevant suppressive therapy.

Curation actions

  • Keep Familial_Hyperaldosteronism_Type_I.yaml as the canonical target.
  • No mapping change is needed.
  • Consider cross-checking whether urinary 18-oxocortisol should be represented separately from the existing hybrid-steroid biochemical rows.