Table 3a.

Genetic Disorders Associated with an Increased Risk of Pheochromocytomas

GeneDisorderMOIClinical Characteristics
MAX
SDHA
SDHAF2
SDHB
SDHC
SDHD
TMEM127 		Hereditary paraganglioma-pheochromocytoma syndrome AD 1Characterized by PGL & Pheo
NF1 Neurofibromatosis 1 ADCafé au lait macules, intertriginous freckling, cutaneous neurofibromas, & learning disability. Pheo are more common in persons w/NF1 but are still rare & occur in <1% of adults w/NF1.
RET Multiple endocrine neoplasia type 2 (MEN2)AD
  • MEN2A: ↑ risk for MTC, Pheo, & parathyroid adenoma or hyperplasia. Pheo usually present after MTC or concomitantly; however, they are 1st manifestation in 13%-27%.
  • MEN2B: mucosal neuromas of lips & tongue, ganglioneuromatosis of GI tract, marfanoid habitus, & ↑ risk for MTC & Pheo. Pheo occur in 50% of persons w/MEN2B.

AD = autosomal dominant; GI = gastrointestinal; MOI = mode of inheritance; MTC = medullary thyroid cancer; Pheo = pheochromocytomas; PGL = paragangliomas

1.

Pathogenic variants in SDHD demonstrate parent-of-origin effects and generally cause disease only when the pathogenic variant is inherited from the father. Pathogenic variants in SDHAF2 and possibly MAX exhibit parent-of-origin effects similar to those of pathogenic variants in SDHD.

From: Von Hippel-Lindau Syndrome

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