pigmented nodular adrenocortical disease, primary, 1
Findings
No curated finding names pigmented nodular adrenocortical disease, primary, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene.
Definition from the Mondo Disease Ontology (MONDO:0012509), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Increased circulating cortisol levelHPOHP:0003118
- 5 of 5 reported patients
- Increased urinary cortisol levelHPOHP:0012030
- 5 of 5 reported patients
- Decreased circulating dehydroepiandrosterone concentrationHPOHP:0031214
- 3 of 4 reported patients
- Increased serum testosterone levelHPOHP:0030088
- 2 of 4 reported patients
- Secondary amenorrheaHPOHP:0000869
- 1 of 4 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PRKAR1AHGNC:9388
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
3 names
Resolves to: pigmented nodular adrenocortical disease, primary, 1
- Also called
- pigmented nodular adrenocortical disease, primary, type 1primary pigmented nodular adrenocortical disease caused by mutation in PRKAR1APRKAR1A primary pigmented nodular adrenocortical disease