Von Hippel-Lindau disease
Von-Hippel Lindau disease is caused by an autosomal dominant deletion of the VHL gene on chromosome 3.
This gene codes for a protein that normally ubiquitinates (tags for degradation) hypoxia induced transcription factors like Hypoxia Inducible Factor 1a. When there is oxygen present, the HIF1a is low because the is no hypoxia. When the environment turns hypoxic, the HIF1a build up and starts transcription of things like Vascular Endothelial Growth Factor (VEGF). This is why we look for patients with hemangiomas (tumor of blood vessels) in the CNS or retina called hemanioblastomas. Cysts may be found in the pancreas, liver, or kidney. Highly associated risks with VHL is renal cell carcinoma and pheochromocytoma.