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pheochromocytoma/paraganglioma syndrome 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pheochromocytoma/paraganglioma syndrome 6

MONDO:0032767

Also known as:paragangliomas 6PGL6

Overview

GeneticsAutosomal dominant · SLC25A11 (chr 17)

OnsetADULT

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 always present findings: Paraganglioma. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	1	Elevated circulating catecholamine level
Heart and blood vessels

Genetic Landscape

SLC25A11 function has not been fully characterized.

Pheochromocytoma/paraganglioma syndrome 6 is associated with mutations in the SLC25A11 gene on chromosome 17.

Diagnosis

Genetic testing for SLC25A11 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for pheochromocytoma/paraganglioma syndrome 6 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 pheochromocytoma/paraganglioma syndrome 6.

124 publications have been identified in PubMed for pheochromocytoma/paraganglioma syndrome 6. Research spans Review / Meta-Analysis (30%), Epidemiology / Natural History (19%), and Case Report / Case Series (16%).

Research Type	Count	% of Total
Research summaries	37	30%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618464

GARD

Genetic and Rare Diseases Info Center

GARD:16354

Questions for Your Care Team

→Should I pursue genetic testing for SLC25A11, 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

pheochromocytoma/paraganglioma syndrome 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

pheochromocytoma/paraganglioma syndrome 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

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