Features include always present findings: Hyperkalemia, Increased circulating corticosterone level, Hyponatremia, and Increased circulating 18-hydroxycortisone level and others. 11 total HPO annotations.

CYP11B2 encodes cytochrome P450 family 11 subfamily B member 2 (503 aa). A cytochrome P450 monooxygenase that catalyzes the biosynthesis of aldosterone, the main mineralocorticoid in the human body responsible for salt and water homeostasis, thus involved in blood pressure regulation, arterial hypertension, and the development of heart failure. Highest expression in Adrenal Gland (89.4 TPM) and Testis (0.2 TPM).

Corticosterone methyloxidase type 2 deficiency is associated with mutations in the CYP11B2 gene on chromosome 8.

The CYP11B2 protein participates in CYP11B2 R141_L142dup, CYP11B2 oxidises 18HCORST to ALDO, and CYP11B2 oxidises 11DCORST to CORST pathways.

CYP11B2 is classified as a druggable target (Cytochrome P450, Druggable Genome, and Enzyme categories) with score 5.8.

Genetic testing for CYP11B2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for corticosterone methyloxidase type 2 deficiency has been reported in the published literature.

Phenotype severity distribution: 5 always present features.

No clinical trials have been registered for corticosterone methyloxidase type 2 deficiency.

13 publications have been identified in PubMed for corticosterone methyloxidase type 2 deficiency. Research spans Clinical Trial Publication (38%), Basic Science / Preclinical (15%), and Epidemiology / Natural History (15%).