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pheochromocytoma/paraganglioma syndrome 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pheochromocytoma/paraganglioma syndrome 7

MONDO:0032771

Also known as:paragangliomas 7PGL7

Overview

GeneticsAutosomal dominant · DLST (chr 14)

Clinical Presentation

Features include common findings: Paraganglioma and Pheochromocytoma.

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

DLST encodes dihydrolipoamide S-succinyltransferase (453 aa). Dihydrolipoamide succinyltransferase (E2) component of the 2-oxoglutarate dehydrogenase complex. Highest expression in Cells Cultured fibroblasts (186.7 TPM) and Cervix Endocervix (136.4 TPM).

Pheochromocytoma/paraganglioma syndrome 7 is associated with mutations in the DLST gene on chromosome 14.

The DLST protein participates in DLST transfers glutaryl to CoA, DLST transfers succinyl to CoA, and LIPT1 transfers lipoyl group from lipoyl-GCSH to DBT/DLST pathways.

DLST is classified as a druggable target with score 52.2.

Diagnosis

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

Biomarker and diagnostic research for pheochromocytoma/paraganglioma syndrome 7 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 common features.

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 7.

145 publications have been identified in PubMed for pheochromocytoma/paraganglioma syndrome 7. Research spans Epidemiology / Natural History (27%), Clinical Trial Publication (22%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Disease patterns and progression	39	27%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618475

GARD

Genetic and Rare Diseases Info Center

GARD:16356

Questions for Your Care Team

→Should I pursue genetic testing for DLST, 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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pheochromocytoma/paraganglioma syndrome 7

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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