USMLE (Fach) / Biochemistry - Genetics (Lektion)

zurück | weiter
Vorderseite Von Hippel-Lindau disease
Rückseite

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

Diese Karteikarte wurde von estoffel erstellt.