Pheochromocytoma/paraganglioma syndrome 1
Pheochromocytoma/paraganglioma syndrome 1
Definition
An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHD 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 SDHD, paragangliomas 1, paragangliomas 1, with or without deafness, paragangliomas type 1, pheochromocytoma/paraganglioma syndrome 1, SDHD paraganglioma, SDHD-related tumor predisposition — per MONDO