/pheochromocytoma/paraganglioma syndrome 2

pheochromocytoma/paraganglioma syndrome 2

Rare Disease

MONDO:0011121

Also Known As

SDHAF2 paragangliomaSDHAF2-related tumor predispositionparaganglioma caused by mutation in SDHAF2paragangliomas 2paragangliomas type 2pheochromocytoma/paraganglioma syndrome 2PGL2SDHAF2-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 2)glomus tumors, familial, 2

Definition

An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHAF2 gene, characterized by an increased risk of paraganglioma, particularly head and neck paragangliomas.