Autosomal Dominant Flashcards Preview

Biochemistry > Autosomal Dominant > Flashcards

Flashcards in Autosomal Dominant Deck (15):
1

ADPKD

mostly due to PKD1 mutation (Chr. 16)
remainder due to PKD2 mutation (Chr. 4)

2

FAP

mutation in APC gene on Chr. 5;
hundreds of adenomatous polys in colon after puberty

3

Familial hypercholesterolemia

elevated LDL due to defective or absent LDL receptor;
atherosclerotic disease early in life, corneal arcus, tendon xanthomas

4

Hereditary hemorrhagic telangietasia
(Osler-Weber-Rendu syndrome)

inherited disorder of blood vessels;
telangiectasias, recurrent epistaxis, skin discolorations, AV malformations, GI bledding, hematuria

5

Hereditary spherocytosis

spheroid erythrocytes due to spectrin or ankyrin defect

6

Huntington disease

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

7

Li-Fraumeni syndrome

abnormalities in TP53;
Sarcoma, breast, leukemia, adrenal gland

8

Marfan syndrome

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)

9

MEN1

MEN1 gene mutation (menin, tumor suppressor);
Parathyroid, Pituitary, Pancreatic (ZE syndrome, insulinoma, VIPoma, glucagonoma (rare)

10

MEN2A

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

11

MEN2B

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

12

NF1

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

13

NF2

bilateral acoustic schwannomas, juvenile cataracts, meningiomas, ependymomas

14

Tuberous sclerosis

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

15

VHL

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