Medicine & USMLE


Autosomal Dominant Diseases
  1. Marfan Syndrome
  2. Li-Fraumeni Syndrome (LFS)
  3. Achondroplasia
  4. Job (Hyper IgE) Syndrome
  5. HHT
  6. Hereditary Spherocytosis
  7. von Hippel-Lindau (VHL)
  8. MEN 1
  9. MEN 2
  10. Von Recklinghausen Disease (NF I)
  11. Neurofibromatosis Type II (NF II)
  12. Myotonic Dystrophy
  13. ADPKD

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys.

This is commonly caused by mutations of PKD1 on chromosome 16, or less commonly by PKD2 on chromosome 4. Kidney cysts cause a variety of findings, including hematuria, flank pain, and progressive renal failure. An abnormal kidney architecture increases the risk of urinary tract infections. In addition, renal artery involvement can cause a renin-induced hypertension, which may be treated with ACE inhibitors or ARB antagonists.

Outside the kidney, diverticulosis of the GI tract and berry aneurysms of the cerebral arteries can occur. Rupture of a berry aneurysm can be a cause of hemorrhagic stroke in these patients.

Find ADPKD and more Autosomal Dominant Diseases among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.