multiple paragangliomas associated with polycythemia
MONDO:0017926Mondo
Findings
No curated finding names multiple paragangliomas associated with polycythemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0017926), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
7 names
Resolves to: multiple paragangliomas associated with polycythemia
- Also called
- EPAS1 gain-of-function mutation syndromeEPAS1-related polycythemia-paraganglioma syndromeMosaic HIF2A gain-of-function disordermultiple paragangliomas associated with erythrocytosisPacak-Zhuang syndromeparaganglioma-somatostatinoma-polycythemia syndromepolycythemia-paraganglioma-somatostatinoma syndrome