Inheritance patterns

Question 1

X-linked recessive

Answer 1

Bruton agammaglob, WAS

Ocular albinism
Ornithine transcarbamylase (orotic aciduria, no megaloblastic anemia)
G6PD (decreased NADPH)
Lesch Nyhan (HGPRT)

Fabry (angiokeratomas, renal disease, whorled cornea, inc ceramide trihexose, decreased galactosidase)
Hunter (aggressive, increase heparan sulfate, def. iduronate sulfate)

Hemophilia A/B
Duchenne (frameshift), Becker’s (point)

Question 2

Autosomal recessive

Answer 2

ARPKD, 
CF, Kartagener's
Glycogen storage diseases
Lysosomal storage (except Fabry, Hunter)
Wilson's
Hemochromatosis
Thalassemias, SS (GA --> valine), Hem C (GA--> lysine)
Pyruvate kinase (no glycolysis of RBCs)

Hyperchylomicronemia (LPL lipase def, TGs, Pancreatitis)

Question 3

Autosomal dominant

Answer 3

Spherocytosis
vWD
F5 leiden/ Protein C,S def/ AT3 def
Osler-weber rendu hemorrhagic telangiectasias

FAP, ADPKD
Marfan
NF, TS, MEN, VHL

Hypercholestrolemia (LDL receptor def, MI)