von Hippel-Lindau (VHL)
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Autosomal Dominant Diseases
- Marfan Syndrome
- Li-Fraumeni Syndrome (LFS)
- Achondroplasia
- Job (Hyper IgE) Syndrome
- HHT
- Hereditary Spherocytosis
- von Hippel-Lindau (VHL)
- MEN 1
- MEN 2
- Von Recklinghausen Disease (NF I)
- Neurofibromatosis Type II (NF II)
- Myotonic Dystrophy
- ADPKD
Von Hippel-Lindau Syndrome (VHL) is an inherited condition associated with tumors arising in multiple organs.
It is caused by an autosomal dominant mutation in the VHL gene on chromosome 3, encoding a tumor suppressor protein that inhibits hypoxia inducing factor. The most frequent tumors are hemangioblastomas, renal cell carcinoma, and pheochromocytoma.
Find this von Hippel-Lindau mnemonic and more Autosomal Dominant Diseases mnemonics among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.