Table 4. [Pheochromocytoma Susceptibility Genes in the...]. - GeneReviews®

Gene(s)	Disorder	Key Features	Comment
VHL	Von Hippel-Lindau syndrome (VHL syndrome)	Hemangioblastomas of the brain, spinal cord, & retina; renal cysts & clear cell renal cell carcinoma; PCC, pancreatic cysts, & neuroendocrine tumors; endolymphatic sac tumors; & epididymal & broad ligament cysts	VHL can present w/familial PCC or nonsyndromic PCC; PCCs can be unilateral or bilateral & are usually benign, but malignant behavior has been reported.
MAX SDHA SDHAF2 SDHB SDHC SDHD TMEM127 ¹	Hereditary PGL-PCC syndrome	PGLs & PCCs; additional tumors: GI stromal tumors, pulmonary chondromas, renal clear cell carcinoma, papillary thyroid carcinoma, pituitary adenomas, & neuroendocrine tumors	While head & neck PGLs are common in persons w/hereditary PGL-PCC syndrome, they are extremely rare in MEN2 ²
NF1	Neurofibromatosis type 1 (NF1)	Most persons w/NF1 can be diagnosed based on clinical features (multiple café au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, & learning disability or neurobehavioral manifestations).	Although much more frequent in people w/NF1 than in the general population, PCCs or PGLs are found in <1% of adults w/NF1; these tumors are usually asymptomatic, but they can cause arterial hypertension.

Gene(s)

Disorder

Key Features

Comment

VHL

Von Hippel-Lindau syndrome (VHL syndrome)

Hemangioblastomas of the brain, spinal cord, & retina; renal cysts & clear cell renal cell carcinoma; PCC, pancreatic cysts, & neuroendocrine tumors; endolymphatic sac tumors; & epididymal & broad ligament cysts

VHL can present w/familial PCC or nonsyndromic PCC; PCCs can be unilateral or bilateral & are usually benign, but malignant behavior has been reported.

MAX
SDHA
SDHAF2
SDHB
SDHC
SDHD
TMEM127 ¹

Hereditary PGL-PCC syndrome

PGLs & PCCs; additional tumors: GI stromal tumors, pulmonary chondromas, renal clear cell carcinoma, papillary thyroid carcinoma, pituitary adenomas, & neuroendocrine tumors

While head & neck PGLs are common in persons w/hereditary PGL-PCC syndrome, they are extremely rare in MEN2 ²

NF1

Neurofibromatosis type 1 (NF1)

Most persons w/NF1 can be diagnosed based on clinical features (multiple café au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, & learning disability or neurobehavioral manifestations).

Although much more frequent in people w/NF1 than in the general population, PCCs or PGLs are found in <1% of adults w/NF1; these tumors are usually asymptomatic, but they can cause arterial hypertension.

From: Multiple Endocrine Neoplasia Type 2

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.