/pheochromocytoma/paraganglioma syndrome 3

pheochromocytoma/paraganglioma syndrome 3

Rare Disease

MONDO:0011544

Also Known As

SDHC paragangliomaSDHC-related tumor predispositionparaganglioma caused by mutation in SDHCparagangliomas 3paragangliomas type 3pheochromocytoma/paraganglioma syndrome 3PGL3SDHC-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 3)glomus tumors, familial, 3

Definition

An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHC gene, characterized by an increased risk of paraganglioma and pheochromocytoma, as well as an increased risk of renal cell carcinoma and gastrointestinal stromal tumors (GIST).