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pigmented nodular adrenocortical disease, primary, 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pigmented nodular adrenocortical disease, primary, 4

MONDO:0014359

Also known as:Cushing syndrome, ACTH-independent adrenal, somaticPRKACA primary pigmented nodular adrenocortical diseasepigmented nodular adrenocortical disease, primary, type 4

Overview

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

GeneticsAutosomal dominant · PRKACA (chr 19)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Increased body weight, Alopecia, Dorsocervical fat pad, and Fragile skin and 14 more.

Organ System	Phenotype Count	Example Features
Hormones	3	Diabetes mellitus, Adrenal hyperplasia, Increased circulating cortisol level
Skin

Genetic Landscape

PRKACA function has not been fully characterized.

Pigmented nodular adrenocortical disease, primary, 4 is associated with mutations in the PRKACA gene on chromosome 19.

Diagnosis

Genetic testing for PRKACA 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, 4.

17 publications have been identified in PubMed for pigmented nodular adrenocortical disease, primary, 4. Research spans Case Report / Case Series (47%), Review / Meta-Analysis (41%), and Basic Science / Preclinical (6%).

Research Type	Count	% of Total
Patient case studies	8	47%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 10:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615830

GARD

Genetic and Rare Diseases Info Center

GARD:16016

Questions for Your Care Team

→Should I pursue genetic testing for PRKACA, 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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pigmented nodular adrenocortical disease, primary, 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

pigmented nodular adrenocortical disease, primary, 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications