Autosomal Dominant

Question 1

ADPKD

Answer 1

mostly due to PKD1 mutation (Chr. 16)

remainder due to PKD2 mutation (Chr. 4)

Question 2

FAP

Answer 2

mutation in APC gene on Chr. 5;

hundreds of adenomatous polys in colon after puberty

Question 3

Familial hypercholesterolemia

Answer 3

elevated LDL due to defective or absent LDL receptor;

atherosclerotic disease early in life, corneal arcus, tendon xanthomas

Question 4

Hereditary hemorrhagic telangietasia

Osler-Weber-Rendu syndrome

Answer 4

inherited disorder of blood vessels;

telangiectasias, recurrent epistaxis, skin discolorations, AV malformations, GI bledding, hematuria

Question 5

Hereditary spherocytosis

Answer 5

spheroid erythrocytes due to spectrin or ankyrin defect

Question 6

Huntington disease

Answer 6

depression, progressive dementia, choreiform movements, caudate atrophy;
CAG repeats;
increased DA, decreased GABA, decreased Ach

Question 7

Li-Fraumeni syndrome

Answer 7

abnormalities in TP53;

Sarcoma, breast, leukemia, adrenal gland

Question 8

Marfan syndrome

Answer 8

FBN1 gene mutation (Chr. 15);
defective fibrin;
cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms;
floppy mitral valve;
subluxation of lens (upward and temporally)

Question 9

MEN1

Answer 9

MEN1 gene mutation (menin, tumor suppressor);

Parathyroid, Pituitary, Pancreatic (ZE syndrome, insulinoma, VIPoma, glucagonoma (rare)

Question 10

MEN2A

Answer 10

RET gene mutation (receptor tyrosine kinase);
Parathyroid hyperplasia, Pheochromocytoma, Medullary thyroid CA;
marfanoid habitus

Question 11

MEN2B

Answer 11

RET gene mutation;
Pheochromocytoma, Medullary thyroid CA, Mucosal neuromoa (oral/intestinal ganglioneuromatosis);
marfanoid habitus

Question 12

NF1

Answer 12

cafe-au-lait spots, cutaneous neurofibromas, optic gliomas, pheochromocytomas, Lisch nodules;
100% penetrance, variable expression

Question 13

NF2

Answer 13

bilateral acoustic schwannomas, juvenile cataracts, meningiomas, ependymomas

Question 14

Tuberous sclerosis

Answer 14

TSC1 (Chr. 9) or TSC2 (Chr. 16), mutation in tumor suppressor;
hamartomas in CNS and skin, angiofibromas, mitral regurgitation, ash-leaf spots, cardiac rhabdomyoma, mental retardation, renal angiomyolipoma, seizures, shagreen patches; increased incidence of subependymal astrocytomas and ungual fibromas

Question 15

VHL

Answer 15

deletion of VHL gene (tumor suppressor); hemangioblastomas in: retina, brain stem, cerebellum, spine;
angiomatosis (cavernous hemangiomas in skin, mucosa); bilateral renal cell carcinomas;
pheochromocytomas