/pheochromocytoma/paraganglioma syndrome 4

pheochromocytoma/paraganglioma syndrome 4

Rare Disease

MONDO:0007273

Also Known As

SDHB paragangliomaSDHB-related tumor predispositionparaganglioma caused by mutation in SDHBparagangliomas 4paragangliomas type 4pheochromocytoma/paraganglioma syndrome 4PGL4SDHB-related hereditary paraganglioma-pheochromocytoma syndromecarotid body tumors and multiple extraadrenal Pheochromocytomascarotid body tumours and multiple extraadrenal Pheochromocytomasparaganglioma, familial malignantparagangliomas, hereditary extraadrenalpheochromocytoma, extraadrenal and cervical paragangliomapheochromocytoma, extraadrenal, and cervical paragangliomapheochromocytoma, familial extraadrenal

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).