| VHL |
1:36,000 |
VHL |
Hypoxic pathway(through HIF) |
Clear cell RCC |
pancreatic cysts and neuroendocrine tumors, pheochromocytoma, retina I angiomas, hemangioblastomas |
| Birt-Hogg-Dubé |
rare(unknown) |
FLCN |
m-TOR |
Variable subtypes |
cutaneous lesions, pulmonary cvsts and spontaneous pneumothorax |
| HPRC |
rare (Iess then 1:1,500.00 |
MET |
C-MET |
Type 1 papillary RCC |
not specific |
| HLRCC |
Rare (unknown) |
FH |
Krebs cycle |
HLRC related RCC |
Multiples cutaneous and uterine leyomiomas |
| SDH-RCC |
rare(unknown) |
SDHB/SDHC/SDHD |
Krebs cycle |
SDH related RCC |
Paragangliomas/Pheocromocytoma GIST |
| T5 |
1:6,000 |
T5C1/T5C2 |
m-TOR |
Angiomyolipomas Clear Cell RCC Renal Cvsts |
mental retardation, seizures and development of hamartomas in multiple organs |
| Cowden |
1:200,000 |
PTEN |
AKT signaling pathway |
Various histologyc subtypes |
macrocephalv, multiple hamartomas, dermatologic disorders such as acral keratosis and facial trichilemmomas and increased risk for breast, endometrial and thyroid cancers. |
