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GTR Home > Conditions/Phenotypes > Paragangliomas 7

Paragangliomas 7

Synonyms
PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 7

Summary

Pheochromocytoma/paraganglioma syndrome-7 (PPGL7) is an autosomal dominant tumor predisposition syndrome in which affected individuals develop adult-onset neuroendocrine neoplasms, known as paragangliomas. Most tumors arise in the abdomen, secrete normetanephrine, and follow a benign disease course (summary by Remacha et al., 2019). For a discussion of genetic heterogeneity of pheochromocytoma/paraganglioma syndrome, see PPGL1 (168000). [from OMIM]

Available tests

3 tests are in the database for this condition.

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Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DLTS, KGD2, PGL7, PPGL7, DLST
    Summary: dihydrolipoamide S-succinyltransferase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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