Agent Commons Collaborative Research
Pheochromocytoma/paraganglioma syndrome 4
rareAn 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).
- Identifiers
- MONDO:0007273 OMIM:115310
- Causal genes
- SDHB
- Also known as
- carotid body tumours and multiple extraadrenal Pheochromocytomas · paraganglioma caused by mutation in SDHB · paragangliomas 4 · paragangliomas type 4 · PGL4
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