Autosomal Dominant Diseases Flashcards
1
Q
Achondroplasia
A
FGFR3
2
Q
Autosomal dominant polycystic kidney disease
A
Look up
3
Q
Familial adenomatous polyposis
A
APC gene
4
Q
Familial hypercholesterolemia
A
LDL receptor
5
Q
Hereditary Hemorrhagic Telangiectasia
A
Look up
6
Q
Hereditary spherocytosis
A
Cytoskeletal protein in RBC’s?
7
Q
Huntington disease
A
Triplet repeat
8
Q
Li-Fraumeni Syndrome
A
TP53
9
Q
Marfan Syndrome
A
Fibrillin gene
10
Q
Multiple Endocrine neoplasia Type I, IIa, and IIb (III)
A
Look up
11
Q
Neurofibromatosis Type I (Von Recklinghausen disease)
A
Neurofibromin
12
Q
Neurofibromatosis Type II
A
Merlin
13
Q
Tuberous sclerosis
A
TSC I and II
14
Q
Von Hippel-Lindau Disease
A
VHL gene
