Table 1 Clinical features of HIF-2α-driven disease
From: HIF-2α-pVHL complex reveals broad genotype-phenotype correlations in HIF-2α-driven disease
Class 1a (n = 6) | Class 1b (n = 12) | Class 1c (n = 20) | Class 2 (n = 28) | |
|---|---|---|---|---|
Disease penetrance | ||||
PPGL (%) | 100 | 100 | 100 | 0 |
SOM (%) | 100 | 0 | 0 | 0 |
Polycythemia (%) | 100 | 100 | 0 | 100 |
Age of disease onset (years) | ||||
PPGL | 28.00 ± 13.2 | 22.42 ± 16.0 | 49.26 ± 16.7 | – |
SOM | 34.83 ± 13.4 | – | – | – |
Polycythemia | 5.00 ± 6.1 | 1.55 ± 2.2 | – | 28.21 ± 14.3 |
Heritability | ||||
Family history (%) | 0 | 8.33 (1 familial case, 11 sporadic cases) | 0 | 60 (9 familial cases, 6 sporadic cases) |
Type of mutation | ||||
Heterozygous (%) | 100 | 100 | 100 | 100 |
Single missense (%) | 100 | 91.67 | 85 | 100 |
Multiple missense (%) | 0 | 8.33 | 5 | 0 |
Microdeletion (%) | 0 | 0 | 10 | 0 |
