Table 1.
Syndromes with increased risk of PPGL
| Syndrome | Gene | Location | Transmission | Original reference |
|---|---|---|---|---|
| PGL1 | SDHD | 11q23 | AD, paternal | Baysal et al. (32) |
| PGL2 | SDHAF2 | 11q12 | AD, paternal | Hao et al. (33) |
| PGL3 | SDHC | 1q23.3 | AD | Niemann et al. (31) |
| PGL4 | SDHB | 1p36.13 | AD | Astuti et al. (30) |
| PGL5 | SDHA | 5p15 | NA | Burnichon et al. (29) |
| FH | FH | 1q42.1 | NA | Letouze et al. (34) |
| Von Hippel Lindau | VHL | 3p25.3 | AD | Latif et al. (35) |
| Paraganglioma-Polycytemia disease | EPAS1 | 2p21 | NA | Zhuang et al. (36) |
| Neurofibromatosis type 1 | NF1 | 17q11.2 | AD | Wallace et al. (38) |
| MEN2 | RET | 10q11.21 | AD | Mulligan et al. (37) |
| TMEM127 | TMEM127 | 2q11.2 | AD | Qin et al. (39) |
| MAX | MAX | 14q23.3 | AD, paternal | Comino-Mendez et al. (40) |
PGL, paraganglioma; PPGL, pheochromocytoma and paraganglioma; FH, fumarate hydratase; MEN2, multiple endocrine neoplasia type 2; TMEM127, transmembrane protein 127; MAX, myc-associated factor X; AD, autosomal dominant; VHL, Von Hippel Lindau syndrome; NF1, Neurofibromatosis type 1; NA, not available.