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pigmented nodular adrenocortical disease, primary, 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pigmented nodular adrenocortical disease, primary, 3

MONDO:0013616

Also known as:PDE8B primary pigmented nodular adrenocortical diseasepigmented nodular adrenocortical disease, primary, type 3primary pigmented nodular adrenocortical disease caused by mutation in PDE8B

Overview

Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene.

GeneticsAutosomal dominant · PDE8B (chr 5)

Clinical Presentation

Features include: Adrenal hyperplasia and Increased circulating cortisol level.

Organ System	Phenotype Count	Example Features
Hormones	2	Adrenal hyperplasia, Increased circulating cortisol level

Explore clinical features

Genetic Landscape

PDE8B function has not been fully characterized.

Pigmented nodular adrenocortical disease, primary, 3 is associated with mutations in the PDE8B gene on chromosome 5.

Diagnosis

Genetic testing for PDE8B is available. Testing is considered confirmatory for diagnosis.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for pigmented nodular adrenocortical disease, primary, 3.

13 publications have been identified in PubMed for pigmented nodular adrenocortical disease, primary, 3. Research spans Case Report / Case Series (46%), Review / Meta-Analysis (31%), and Clinical Trial Publication (8%).

Research Type	Count	% of Total
Patient case studies	6	46%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 11:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614190

GARD

Genetic and Rare Diseases Info Center

GARD:15769

Questions for Your Care Team

→Should I pursue genetic testing for PDE8B, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

pigmented nodular adrenocortical disease, primary, 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Integrated Clinical-Genetic-Pathological Analysis Expands the Phenotypic and Molecular Spectrum of PPNAD Across Carney Complex and Isolated Forms.

pigmented nodular adrenocortical disease, primary, 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Integrated Clinical-Genetic-Pathological Analysis Expands the Phenotypic and Molecular Spectrum of PPNAD Across Carney Complex and Isolated Forms.