Table 1. Major Genetic Syndromes That Carry an Increased Risk of Pheochromocytoma

Genetic Syndrome or Condition Affected GeneComment
Multiple endocrine neoplasia type 2A and 2BRET (Refer to the Pheochromocytoma section in the PDQ summary on the Genetics of Endocrine and Neuroendocrine Neoplasias for more information.)
von Hippel-Lindau diseaseVHL
Neurofibromatosis type 1NF1
Hereditary Paraganglioma SyndromeSDHD [11]Formerly referred to as familial pheochromocytoma-paraganglioma syndrome type 1
SDHAF2 (SDH5) [12]Formerly referred to as familial pheochromocytoma-paraganglioma syndrome type 2
SDHC [13] Formerly referred to as familial pheochromocytoma-paraganglioma syndrome type 3
SDHB [14]Formerly referred to as familial pheochromocytoma-paraganglioma syndrome type 4
SDHA [15]

From: Pheochromocytoma and Paraganglioma Treatment (PDQ®)

Cover of PDQ Cancer Information Summaries
PDQ Cancer Information Summaries [Internet].
Bethesda (MD): National Cancer Institute (US); 2002-.

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