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Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene.
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:47 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Features include always present findings: Pigmented micronodular adrenocortical disease; and common findings: Increased circulating cortisol level. 22 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 6 | Depression, Anxiety, Emotional lability |
Bones and joints | 3 | Weak and brittle bones (osteoporosis), Mild bone density loss (osteopenia), Excessive outward curvature of the upper spine (kyphosis) |
Hormones | 2 | Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased circulating cortisol level |
Head and neck | 1 | Round face |
Heart and blood vessels | 1 | Hypertension |
Skin | 1 | Thin skin |
Digestive system | 1 | Pancreatitis |
PDE11A function has not been fully characterized.
Pigmented nodular adrenocortical disease, primary, 2 is associated with mutations in the PDE11A gene on chromosome 2.
Genetic testing for PDE11A is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature, 1 common feature.
No clinical trials have been registered for pigmented nodular adrenocortical disease, primary, 2.
8 publications have been identified in PubMed for pigmented nodular adrenocortical disease, primary, 2. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (38%), and Basic Science / Preclinical (13%).
Carling T (2026). [PMID: 41694449](https://pubmed.ncbi.nlm.nih.gov/41694449/). *JCEM case reports*. [Case Report / Case Series]
Lima Sobrinho JAB (2026). [PMID: 41816209](https://pubmed.ncbi.nlm.nih.gov/41816209/). *Frontiers in endocrinology*. [Basic Science / Preclinical]
Navas-Moreno V (2026). [PMID: 42236017](https://pubmed.ncbi.nlm.nih.gov/42236017/). *Vitam Horm*. [Review / Meta-Analysis]
Zhen Y (2026). [PMID: 42220841](https://pubmed.ncbi.nlm.nih.gov/42220841/). *Cureus*. [Case Report / Case Series]
Yüksek Acınıklı K (2026). [PMID: 38084047](https://pubmed.ncbi.nlm.nih.gov/38084047/). *Journal of clinical research in pediatric endocrinology*. [Case Report / Case Series]
Ravi Kumar P (2025). [PMID: 40066253](https://pubmed.ncbi.nlm.nih.gov/40066253/). *JCEM Case Rep*. [Case Report / Case Series]
Sun J (2024). [PMID: 39006359](https://pubmed.ncbi.nlm.nih.gov/39006359/). *Frontiers in endocrinology*. [Review / Meta-Analysis]
Rizkalla CN (2024). [PMID: 38910359](https://pubmed.ncbi.nlm.nih.gov/38910359/). *J Pathol Transl Med*. [Review / Meta-Analysis]