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IEMbase 0120: CYP11B1-related 11-beta-Hydroxylase type 1 deficiency

Scope

Field Value
IEMbase ID 120
Nosology 24.2.02.01
Gene CYP11B1
External IDs OMIM:202010; ORPHA:418
Generated mapping MAPPED, high confidence
Candidate DisMech targets Congenital_Adrenal_Hyperplasia.yaml#11B-OHD
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents this as CYP11B1-related 11-beta-hydroxylase type 1 deficiency, with alternate labels congenital adrenal hyperplasia and CAH. Treatability is marked unknown.

The characteristic biochemical rows include increased ACTH, low potassium, high sodium, increased 11-deoxycortisol, mildly increased 17-OH-progesterone, increased androgens, and increased deoxycorticosterone. Clinical rows include accelerated growth, testicular adrenal rest tumors, and varying degrees of genital ambiguity in 46,XX individuals. No treatment rows are listed.

DisMech phenotype coverage

Congenital_Adrenal_Hyperplasia.yaml includes an 11B-OHD subtype for CYP11B1-related congenital adrenal hyperplasia. The subtype description covers cortisol deficiency, adrenal androgen excess, and accumulation of mineralocorticoid precursors. The broader CAH entry also captures ACTH-driven adrenal hyperplasia and androgen excess, ambiguous genitalia/46,XX virilization, hypertension, infertility, and testicular adrenal rest tumors.

The local entry is still mostly optimized around 21-hydroxylase deficiency, so its biochemical section is less granular for CYP11B1-specific steroid precursors than the IEMbase record.

Concordance and completeness

Judgement: correct mapping, with subtype resolution needed.

The generated file-level CAH mapping is correct, but the manual target should resolve to the 11B-OHD subtype rather than to undifferentiated CAH. DisMech captures the central CYP11B1 mechanism and the major androgen/mineralocorticoid precursor phenotype. IEMbase adds useful diagnostic resolution for 11-deoxycortisol, deoxycorticosterone, potassium, sodium, ACTH, and mild 17-OH-progesterone elevation.

Curation actions

  • Keep Congenital_Adrenal_Hyperplasia.yaml#11B-OHD as the target.
  • Consider adding subtype-specific biochemical rows for 11-deoxycortisol, deoxycorticosterone, ACTH, sodium, potassium, and mild 17-OH-progesterone elevation.
  • Preserve testicular adrenal rest tumors and 46,XX genital ambiguity as shared CAH phenotypes, but make their 11B-OHD relevance clear where possible.