VHL Flashcards
(4 cards)
1
Q
What type of inheritance pattern is associated with Von Hippel-Lindau?
A
Autosomal Dominant (AD)
This means one copy of the mutated gene is sufficient to cause the disorder.
2
Q
On which chromosome is the VHL gene located?
A
Chromosome 3
The VHL gene is specifically found on the short arm of chromosome 3.
3
Q
What are the main findings associated with Von Hippel-Lindau?
A
- Cerebellar hemangioblastomas
- Retinal hemangioblastomas
- Bilateral renal cell carcinoma
- Pancreatic cysts
These are common manifestations of the disease.
4
Q
What is the effect of a mutation in the VHL gene?
A
Constitutive activation of hypoxia-inducible factor
This leads to increased expression of genes that promote tumor growth and vascularization.
