Pheochromocytoma/paraganglioma syndrome 1

MONDO:0008192

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: SDHD paraganglioma, SDHD-related tumor predisposition, paraganglioma caused by mutation in SDHD, paragangliomas 1, paragangliomas 1, with or without deafness, paragangliomas type 1, pheochromocytoma/paraganglioma syndrome 1, PGL1

1350 clinical trials for this condition and its sub-types.

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