multiple paragangliomas associated with polycythemia
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.
MONDO:0002254
syndromic disease
is_a
MONDO:0017190
sporadic pheochromocytoma/secreting paraganglioma
is_a
EPAS1 gain-of-function mutation syndrome
exact
EPAS1-related polycythemia-paraganglioma syndrome
exact
Mosaic HIF2A gain-of-function disorder
exact
Pacak-Zhuang syndrome
exact
multiple paragangliomas associated with erythrocytosis
exact
paraganglioma-somatostatinoma-polycythemia syndrome
exact
polycythemia-paraganglioma-somatostatinoma syndrome
exact