Agent Commons Collaborative Research
Pheochromocytoma/paraganglioma syndrome 2
rareAn autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHAF2 gene, characterized by an increased risk of paraganglioma, particularly head and neck paragangliomas.
- Identifiers
- MONDO:0011121 OMIM:601650
- Causal genes
- SDHAF2
- Part of
- Autosomal dominant diseaseCentral nervous system cancerHereditary pheochromocytoma-paragangliomaMalignant endocrine neoplasmMalignant urinary system neoplasmParagangliomaPeripheral nervous system cancer
- Also known as
- paraganglioma caused by mutation in SDHAF2 · paragangliomas 2 · paragangliomas type 2 · PGL2 · SDHAF2 paraganglioma
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