Table 1. Major Genetic Syndromes That Carry an Increased Risk of Pheochromocytoma
| Genetic Syndrome or Condition | Affected Gene | Comment |
| Multiple endocrine neoplasia type 2A and 2B | RET | (Refer to the Pheochromocytoma section in the PDQ summary on the Genetics of Medullary Thyroid Cancer for more information.) |
| von Hippel-Lindau disease | VHL | |
| Neurofibromatosis type 1 | NF1 | |
| Hereditary Paraganglioma Syndrome | SDHD [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] |
References
- Baysal BE, Ferrell RE, Willett-Brozick JE, et al.: Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287 (5454): 848-51, 2000. [PUBMED Abstract]
- Hao HX, Khalimonchuk O, Schraders M, et al.: SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science 325 (5944): 1139-42, 2009. [PUBMED Abstract]
- Niemann S, Müller U: Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 26 (3): 268-70, 2000. [PUBMED Abstract]
- Astuti D, Latif F, Dallol A, et al.: Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet 69 (1): 49-54, 2001. [PUBMED Abstract]
- Burnichon N, Brière JJ, Libé R, et al.: SDHA is a tumor suppressor gene causing paraganglioma. Hum Mol Genet 19 (15): 3011-20, 2010. [PUBMED Abstract]
