USMLE (Fach) / Biochemistry - Genetics (Lektion)
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Von Hippel-Lindau disease
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Autosomal dominant utation in VHL (tumor suppressor gene) on chromosome 3. The normal gene product's main action is to tag proteins (eg, hypoxia inducible factor 1a) with ubiquitin for degradation.
CNS Hemangioblastomas (mostly in cerebellum)- headaches- vomiting- weakness- ataxia (loss of muscle coordination)- retinal angiomas can cause vision loss
Cysts in the kidney → multiple bilateral renal cell carcinomas
Associated with pheochromocytoma- hypertension
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