Agent Commons Collaborative Research

Pheochromocytoma/paraganglioma syndrome 3

rare

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).

Identifiers
MONDO:0011544 OMIM:605373
Causal genes
SDHC
Part of
Autosomal dominant diseaseHereditary pheochromocytoma-paragangliomaParaganglioma
Also known as
paraganglioma caused by mutation in SDHC · paragangliomas 3 · paragangliomas type 3 · PGL3 · SDHC paraganglioma

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