HIF pathway–related mutations that have resulted in erythrocytosis and/or tumor development in humans
| Gene . | Type of mutation . | Mutation . | Erythrocytosis . | Tumor type . | Ref. . |
|---|---|---|---|---|---|
| VHL | Germline (Homo>>Hetero) | R200W | + | — | 45,55 |
| Germline (Homo) | H191D P138L | + | — | 57,-59 | |
| Germline ((Compound) Hetero) | Various (including R200W) | + | — | 55,56 | |
| Somatic/ Germline (Hetero) | Various | – | E.g. spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma | 60 | |
| PHD2 | Germline (Hetero) | Various | + | — | 55,61,,-64,66,67 |
| Germline (Hetero) | H374R | + | Paraganglioma | 68 | |
| HIF2α | Germline (Hetero) | Various (including G537W) | + | — | 55,69,70 |
| Germline (Hetero) | F374Y | + | Pheochromocytoma/paraganglioma | 73 | |
| Somatic (Hetero) | A530V A530T | + | Paragangliomas/somatostatinoma | 74 | |
| Somatic (Hetero) | Various | +/− | Pheochromocytomas/paragangliomas/somatostatinoma | 75,,-78 |
| Gene . | Type of mutation . | Mutation . | Erythrocytosis . | Tumor type . | Ref. . |
|---|---|---|---|---|---|
| VHL | Germline (Homo>>Hetero) | R200W | + | — | 45,55 |
| Germline (Homo) | H191D P138L | + | — | 57,-59 | |
| Germline ((Compound) Hetero) | Various (including R200W) | + | — | 55,56 | |
| Somatic/ Germline (Hetero) | Various | – | E.g. spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma | 60 | |
| PHD2 | Germline (Hetero) | Various | + | — | 55,61,,-64,66,67 |
| Germline (Hetero) | H374R | + | Paraganglioma | 68 | |
| HIF2α | Germline (Hetero) | Various (including G537W) | + | — | 55,69,70 |
| Germline (Hetero) | F374Y | + | Pheochromocytoma/paraganglioma | 73 | |
| Somatic (Hetero) | A530V A530T | + | Paragangliomas/somatostatinoma | 74 | |
| Somatic (Hetero) | Various | +/− | Pheochromocytomas/paragangliomas/somatostatinoma | 75,,-78 |