Multiple paragangliomas associated with polycythemia
Multiple paragangliomas associated with polycythemia
Definition
A syndrome caused by early postzygotic mosaic gain-of-function mutations in EPAS1 (encoding hypoxia-inducible factor 2 alpha, HIF-2alpha), characterized by multiple paragangliomas, somatostatinomas, and polycythemia, with variable vascular malformations and neural tube defects.
Also known as EPAS1 gain-of-function mutation syndrome, EPAS1-related polycythemia-paraganglioma syndrome, Mosaic HIF2A gain-of-function disorder, multiple paragangliomas associated with erythrocytosis, Pacak-Zhuang syndrome, paraganglioma-somatostatinoma-polycythemia syndrome, polycythemia-paraganglioma-somatostatinoma syndrome — per MONDO