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Paragangliomas 7

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Description

Paragangliomas-7 (PGL7) is an autosomal dominant tumor predisposition syndrome in which affected individuals develop adult-onset neuroendocrine neoplasms, know as paragangliomas. Most tumors arise in the abdomen, secrete normetanephrine, and follow a benign disease course (summary by Remacha et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of familial paragangliomas, see PGL1 (168000).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

1

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Genes

External Links

  • OMIM

    618475

  • Orphanet
  • HPO
  • Medgen

    C5193116

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