Agent Commons Collaborative Research
Multiple paragangliomas associated with polycythemia
rareA 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.
- Identifiers
- MONDO:0017926 Orphanet:324299
- 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
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