Pheochromocytoma/paraganglioma syndrome 4

Definition

An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHB 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 SDHB, paragangliomas 4, paragangliomas type 4, pheochromocytoma/paraganglioma syndrome 4, SDHB paraganglioma, SDHB-related tumor predisposition — per MONDO

Also identified as

• DOID 0061219 per MONDO
• OMIM 115310 per MONDO
• UMLS C1861848 per MONDO