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Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene.
Features include always present findings: Increased urinary cortisol level and Decreased circulating ACTH concentration; and very common findings: Increased circulating cortisol level. 12 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Hormones | 3 | Macronodular adrenal hyperplasia, Increased urinary cortisol level, Increased circulating cortisol level |
Biomarker and diagnostic research for ACTH-independent macronodular adrenal hyperplasia 2 has been reported in the published literature.
Phenotype severity distribution: 2 always present features, 1 very common feature.
No clinical trials have been registered for ACTH-independent macronodular adrenal hyperplasia 2.
23 publications have been identified in PubMed for ACTH-independent macronodular adrenal hyperplasia 2. Research spans Case Report / Case Series (52%), Review / Meta-Analysis (22%), and Basic Science / Preclinical (13%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 12 | 52% |
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:14 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about ACTH-independent macronodular adrenal hyperplasia 2
Brain and nerves |
2 |
Fatigue, Depression |
Digestive system | 1 | Abdominal obesity |
Bones and joints | 1 | Weak and brittle bones (osteoporosis) |
Kidneys and urinary system | 1 | Increased urinary cortisol level |
Heart and blood vessels | 1 | Hypertension |
Head and neck | 1 | Round face |
Research summaries |
5 |
22% |
Laboratory research | 3 | 13% |
Testing and diagnosis research | 2 | 9% |
Disease patterns and progression | 1 | 4% |
Chasseloup F (2026). [PMID: 41864332](https://pubmed.ncbi.nlm.nih.gov/41864332/). *Ann Endocrinol (Paris)*. [Basic Science / Preclinical]
Koukoula C (2026). [PMID: 42067271](https://pubmed.ncbi.nlm.nih.gov/42067271/). *Endocrinol Metab Clin North Am*. [Review / Meta-Analysis]
Yüksek Acınıklı K (2026). [PMID: 38084047](https://pubmed.ncbi.nlm.nih.gov/38084047/). *J Clin Res Pediatr Endocrinol*. [Case Report / Case Series]
O'Connor-Ramiro L (2026). [PMID: 41503047](https://pubmed.ncbi.nlm.nih.gov/41503047/). *JCEM Case Rep*. [Case Report / Case Series]
Vetrivel S (2026). [PMID: 41404845](https://pubmed.ncbi.nlm.nih.gov/41404845/). *J Endocrinol*. [Basic Science / Preclinical]
Gür EÖ (2026). [PMID: 41871980](https://pubmed.ncbi.nlm.nih.gov/41871980/). *J Int Med Res*. [Epidemiology / Natural History]
Bouys L (2025). [PMID: 39921449](https://pubmed.ncbi.nlm.nih.gov/39921449/). *Eur J Endocrinol*. [Diagnostic / Biomarker]
Tian XY (2025). [PMID: 40205919](https://pubmed.ncbi.nlm.nih.gov/40205919/). *Clin Nephrol*. [Case Report / Case Series]
Ban A (2025). [PMID: 39887684](https://pubmed.ncbi.nlm.nih.gov/39887684/). *Endocr Connect*. [Case Report / Case Series]
Bouys L (2025). [PMID: 39910635](https://pubmed.ncbi.nlm.nih.gov/39910635/). *Orphanet J Rare Dis*. [Review / Meta-Analysis]
AI-curated news mentioning ACTH-independent macronodular adrenal hyperplasia 2
Updated Jul 8, 2026
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.