The following is an excerpt....
BASICS
Description
A multisystem neoplastic syndrome characterized by a predisposition to develop cystic as well as solid tumors of the kidney and pancreas, pheochromocytomas, CNS hemangioblastomas, retinal angiomas, endolymphatic sac tumors, and cystadenomas of the epididymis and broad ligament.
Epidemiology
- 1 in 35,000 live births
- Considered a rare disease by ORD of the NIH
- Prevalence in the US: About 7,000
- No gender or racial predilection
Risk Factors
Inheritance of a mutated VHL allele
Genetics
- VHL is a tumor suppression gene.
- VHL is located on chromosome 3p25–26.
- Each affected individual inherits 1 copy of a mutated VHL from the affected parent.
- The loss or mutation of the 2nd (initially normal) allele in the cell leads to tumor ...
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