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GTR Home > Conditions/Phenotypes > Paragangliomas 6

Paragangliomas 6

Synonyms
PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 6

Summary

Pheochromocytoma/paraganglioma syndrome-6 (PPGL6) is an autosomal dominant adult-onset tumor predisposition syndrome in which affected individuals develop neuroendocrine neoplasms, known as paragangliomas. Many tumors arise in the abdomen, although some may arise in other regions, including the head and neck. Some of the tumors may secrete biologically active normetanephrines, resulting in secondary hypertension. Tumors may be benign or malignant, and some may metastasize (summary by Buffet et al., 2018). For a discussion of genetic heterogeneity of pheochromocytoma/paraganglioma syndrome, see PPGL1 (168000). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: OGC, PGL6, PPGL6, SLC20A4, SLC25A11
    Summary: solute carrier family 25 member 11

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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