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ectopic Cushing syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ectopic Cushing syndrome

MONDO:0020527

Also known as:Cushing syndrome due to ectopic ACTH secretionadrenocorticotropic hormone secretion syndromeectopic ACTH secreting tumor

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Overview

A form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor.

Clinical Trials1 registered

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 very common findings: Diabetes mellitus, Increased circulating cortisol level, Increased circulating ACTH level, and Paradoxical increased cortisol secretion on dexamethasone suppression test and others; and common findings: Amenorrhea, Atypical behavior, Emotional lability, and Anxiety and others. 81 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Atypical behavior, Emotional lability, Anxiety

Diagnosis

Biomarker and diagnostic research for ectopic Cushing syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 very common features, 34 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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.

1 clinical trial registered. Interventions under study include drug therapy, other interventions, and procedural interventions. Pipeline includes 1 PHASE2. Research is primarily sponsored by academic and government institutions.

128 publications have been identified in PubMed for ectopic Cushing syndrome. Research spans Case Report / Case Series (54%), Review / Meta-Analysis (22%), and Diagnostic / Biomarker (8%).

Research Type	Count	% of Total
Patient case studies	69

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:99889

GARD

Genetic and Rare Diseases Info Center

GARD:19698

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→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

ectopic Cushing syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Ectopic ACTH-dependent Cushing syndrome in 3 hospitalized patients: lessons learned from management with osilodrostat.

Severe Ectopic ACTH-Dependent Cushing Syndrome Due to a Neuroendocrine Tumor of Occult Primary Origin Presenting with Widespread Metastases and Early Vertebral Fractures: A Rare Case Report.

Cyclic Cushing syndrome as a clinical enigma and diagnostic dilemma in advanced endocrinology.

ectopic Cushing syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Ectopic ACTH-dependent Cushing syndrome in 3 hospitalized patients: lessons learned from management with osilodrostat.

Severe Ectopic ACTH-Dependent Cushing Syndrome Due to a Neuroendocrine Tumor of Occult Primary Origin Presenting with Widespread Metastases and Early Vertebral Fractures: A Rare Case Report.

Cyclic Cushing syndrome as a clinical enigma and diagnostic dilemma in advanced endocrinology.