Signs and symptoms:
- Paragangliomas (tumours in the nervous system) in the head and neck
- Pheochromocytomas (tumours in the adrenal glands)
- The gene associated with this condition has been identified as succinate dehydrogenase (SDH), so an accurate diagnosis is available by genetic testing. Diagnosis can also be made by immunohistochemical analysis of a sample of cells.
- Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. Ricketts CJ, Forman JR, Rattenberry E, Bradshaw N, Lalloo F, Izatt L, Cole TR, Armstrong R, Kumar VK, Morrison PJ, Atkinson AB, Douglas F, Ball SG, Cook J, Srirangalingam U, Killick P, Kirby G, Aylwin S, Woodward ER, Evans DG, Hodgson SV, Murday V, Chew SL, Connell JM, Blundell TL, Macdonald F, Maher ER.
Publication date: September 2012
Review date: September 2014