| Syndrome/name | Gene | Typical tumor location and other associations |
| Hypoxic pathway – Cluster 1* | ||
| SDHD mutation (familial paraganglioma type 1)¶ | SDHD | Primarily skull base and neck; occasionally adrenal medulla, mediastinum, abdomen, pelvis; GIST; possible pituitary adenoma |
| SDHAF2 mutation (familial paraganglioma type 2)¶ | SDHAF2 | Primarily skull base and neck; occasionally abdomen and pelvis |
| SDHC mutation (familial paraganglioma type 3) | SDHC | Primarily skull base and neck; occasionally abdomen and pelvis; GIST; possible pituitary adenoma |
| SDHB mutation (familial paraganglioma type 4) | SDHB | Abdomen, pelvis and mediastinum; rarely adrenal medulla, skull base, and neck; GIST; possible pituitary adenoma |
| SDHA mutation | SDHA | Primarily skull base and neck; occasionally abdomen and pelvis; GIST; possible pituitary adenoma |
| VHL disease | VHL | Adrenal medulla, frequently bilateral; occasionally paraganglioma that may be localized from skull base to pelvis |
| Hereditary leiomyomatosis and renal cell carcinoma (Reed syndrome) – Fumarate hydratase mutation | FH | Multifocal and metastatic; associated with hereditary leiomyomatosis, uterine fibroids, and renal cell cancer |
| Hypoxia inducible factor 2-alpha | HIF-2α | Paraganglioma, polycythemia, and rarely somastostatinoma |
| Familial erythrocytosis associated with mutation in prolyl hydroxylase isoform 1 (PDH1) | EGLN2 | Polycythemia associated with pheochromocytoma and paraganglioma |
| Familial erythrocytosis associated with mutation in prolyl hydroxylase isoform 2 (PDH2) | EGLN1 | Polycythemia associated with pheochromocytoma and paraganglioma |
| KIF1B | KIF1B | Neuroblastoma |
| Kinase signaling pathway – Cluster 2Δ | ||
| MEN2A and MEN2B | RET | Adrenal medulla, frequently bilateral |
| Neurofibromatosis type 1 | NF1 | Adrenal or peri-adrenal |
| MAX¶ | MAX | Adrenal medulla |
| Familial pheochromocytoma | TMEM127 | Adrenal medulla; possible renal cell carcinoma |
