Autosomal Dominant Diseases
- Marfan Syndrome
- Li-Fraumeni Syndrome (LFS)
- Job (Hyper IgE) Syndrome
- Hereditary Spherocytosis
- von Hippel-Lindau (VHL)
- MEN 1
- MEN 2
- Von Recklinghausen Disease (NF I)
- Neurofibromatosis Type II (NF II)
- Myotonic Dystrophy
Multiple Endocrine Neoplasias 2 (MEN2) is an autosomal dominant cancer syndrome with several associated endocrine neoplasms, depending on the subtype.
Both subtypes may be caused by a RET mutation, which causes neural crest cell dysfunction. Both also present with medullary thyroid carcinoma and pheochromocytomas.
However, there are also distinguishing characteristics of each subtype. In particular, MEN2A presents with parathyroid tumors, while MEN2B presents with oral and intestinal ganglioneuromas and a tall marfanoid habitus.
Find MEN2 and more Autosomal Dominant Diseases among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.