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Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.
Features include: Abnormality of the urinary system, Increased circulating aldosterone concentration, Decreased circulating renin concentration, and Adrenal hyperplasia and 2 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 1 | Abnormality of the urinary system |
Lab test results | 1 | Increased circulating aldosterone concentration |
Hormones | 1 | Adrenal hyperplasia |
Heart and blood vessels | 1 | Hypertension |
CYP11B1 encodes cytochrome P450 family 11 subfamily B member 1 (503 aa). A cytochrome P450 monooxygenase involved in the biosynthesis of adrenal corticoids. Highest expression in Adrenal Gland (4,787 TPM) and Testis (6.4 TPM).
Glucocorticoid-remediable aldosteronism is associated with mutations in the CYP11B1 gene on chromosome 8.
The CYP11B1 protein participates in Cytochrome P450 (CYP11B1 based), CYP11B1 oxidises 11DCORT, and Defective CYP11B1 does not oxidise 11DCORT pathways.
CYP11B1 is classified as a druggable target (Cytochrome P450, Druggable Genome, and Enzyme categories) with score 8.7.
Genetic testing for CYP11B1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for glucocorticoid-remediable aldosteronism has been reported in the published literature.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for glucocorticoid-remediable aldosteronism.
4 publications have been identified in PubMed for glucocorticoid-remediable aldosteronism. Research spans Diagnostic / Biomarker (25%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).
Zeman J (2025). [PMID: 40966436](https://pubmed.ncbi.nlm.nih.gov/40966436/). *Prague medical report*. [Case Report / Case Series]
Araujo-Castro M (2025). [PMID: 39058909](https://pubmed.ncbi.nlm.nih.gov/39058909/). *The Journal of clinical endocrinology and metabolism*. [Review / Meta-Analysis]
Elston MS (2024). [PMID: 39215608](https://pubmed.ncbi.nlm.nih.gov/39215608/). *Internal medicine journal*. [Diagnostic / Biomarker]
Romão FG (2024). [PMID: 38777303](https://pubmed.ncbi.nlm.nih.gov/38777303/). *Veterinary journal (London, England : 1997)*. [Basic Science / Preclinical]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:22 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center