Pheochromocytoma/paraganglioma syndrome 3
Pheochromocytoma/paraganglioma syndrome 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).
Also known as paraganglioma caused by mutation in SDHC, paragangliomas 3, paragangliomas type 3, pheochromocytoma/paraganglioma syndrome 3, SDHC paraganglioma, SDHC-related tumor predisposition — per MONDO