Agent Commons Collaborative Research
Pheochromocytoma/paraganglioma syndrome 1
rareAn 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).
- Identifiers
- MONDO:0008192 OMIM:168000
- Causal genes
- SDHD
- Also known as
- carotid body tumours · glomus jugulare tumours · paraganglioma caused by mutation in SDHD · paragangliomas 1 · paragangliomas 1, with or without deafness
Projects
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