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Features include: Vomiting, Hyperkalemia, Increased circulating renin concentration, and Failure to thrive and 8 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 2 | Vomiting, Feeding difficulties in infancy |
Growth and development | 2 | Failure to thrive, Growth delay |
Lab test results | 1 | Increased circulating renin concentration |
Metabolism | 1 | Recurrent fever |
Kidneys and urinary system | 1 | Renal salt wasting |
Muscles | 1 | Renal salt wasting |
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 1 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.
No clinical trials have been registered for corticosterone methyloxidase type 1 deficiency.
2 publications have been identified in PubMed for corticosterone methyloxidase type 1 deficiency. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).
Khalifa HM (2025). [PMID: 41426917](https://pubmed.ncbi.nlm.nih.gov/41426917/). *Cureus*. [Case Report / Case Series]
Gawlik Z (2025). [PMID: 41229259](https://pubmed.ncbi.nlm.nih.gov/41229259/). *Pediatr Endocrinol Diabetes Metab*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Oct 2, 2026, 11:39 PM UTC
Online Mendelian Inheritance in Man
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