Autosomal dominant diseases

Question 1

Dwarfism

Answer 1

Achondroplasia

FGFR3

Question 2

Bilateral, enlarged kidneys

Answer 2

ADPKD
PKD1 chromosome 16
PKD2 chromosome 4
a/w Berry Aneurysm

Question 3

Familial Adenomatous Polyposis

Answer 3

APC gene

chromosome 5q

Question 4

MI

Yellow plaques on medial side of eyelids and joints

Answer 4

Familial hypercholesterolemia

Elevated LDL, due to defect/absent LDL receptor

Question 5

Osler-Weber-Rendu

Answer 5

disorder of blood vessels
telangiectasias, epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria

“SchnOsler-Weber-Rendu” bc of nosebleeds

Question 6

Hereditary Spherocytosis

Answer 6

spectrin and ankyrin defect
hemolytic anemia
elevated MCHC, elevated RDW
Positive osmotic fragility test

Question 7

Huntington disease

Answer 7

“Hunt 4 C’s”

chromosome 4

Cognition
Caudate atrophy
Chorea
CAG repeats
decreased aCetylcholine

Question 8

Marfan syndrome

Answer 8

FBN1    chromosome 15
Cystic medial necrosis of aorta
Lot of aorta stuff (aortic regurg, dissection, aneurysm)
Subluxation of lens
MVP

Question 9

Neurofibromatosis type 1

Answer 9

von Recklinghausen disease
chromosome 17

cafe au lait
Lisch nodules

Question 10

Neurofibromatosis type 2

Answer 10

bilateral acoustic schwannomas
cataracts
meningiomas
ependymomas
type 2 -- NF2 -- chromosome 22

Question 11

Hypopigmented ashleaf spots

Many hamartomas

Answer 11

Tuberous Sclerosis

Question 12

von Hippel-Lindau

Answer 12

chromosome 3
deleted VHL gene – activated HIF gene

Renal Cell Carcinoma
Hemangioblastoma
Pheochromocytoma