Autosomal Dominant Diseases

Question 1

Associated with floppy mitral valve, dissecting aortic aneurysim, berry aneurysm

Answer 1

Marfan’s Syndrome

Question 2

Associated with mitral vlalve prolapse, liver disease, berry aneurysms

Answer 2

ADPKD

Question 3

neural tumors and pigmented iris hamartomas

Answer 3

Neurofibromatosis I

Question 4

very strong association with colon cancer

Answer 4

FAP (APC mutation –> 100% colon cancer –> must resect colon)

Question 5

MI before age 20

Answer 5

Familial hypercholesterolemia (homozygous)

Question 6

hemangioblastomas of retina/cerebellum/medulla

Answer 6

von Hippel Lindau

Question 7

Increased MCHC, hemolytic anemia

Answer 7

hereditary spherocytosis

Question 8

bilateral acoustic neuromas/schwanommas

Answer 8

Neurofibromatosis II

Question 9

facial lesions, seizure disorder, cancer risk

Answer 9

tuberous sclerosis

Question 10

caudate atrophy, dementia

Answer 10

Huntington’s Disease

Question 11

cystic medial necrosis of aorta

Answer 11

Marfans

Question 12

defect of fibroblast growth factor (FGF) receptor 3

Answer 12

Achondroplasia