Previous symbols: CYP11B. Aliases: CYP11BL, CPN2, P-450C18, P450aldo, ALDOS.
ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Early-onset Familial Hypoaldosteronism | causative germline loss of function |
mechanism: Biallelic CYP11B2 loss of function
subtype: CMO I; CMO II
|
| familial hyperaldosteronism | causative germline |
mechanism: ACTH-regulated aldosterone synthase expression
subtype: Type I
scoped to subtype: Type I
|
| Familial hyperaldosteronism type I |
untyped
Fusion gene component
|
mechanism: ACTH-regulated aldosterone synthase expression; CYP11B1-CYP11B2 chimeric gene formation
|
| Adrenal Cortex Adenoma | no genetic record |
mechanism: CYP11B2 Induction and Autonomous Aldosterone Synthesis
|
| Primary Aldosteronism | no genetic record |
mechanism: Autonomous CYP11B2 Expression and Aldosterone Synthesis
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| familial hyperreninemic hypoaldosteronism type 2 MONDO:0011754 | AR | Definitive 2023-11-16 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.