HY lecture notes:
Super HY inheritance patterns in no particular order
Autosomal recessive
G6Pase (von Gierke)
CF
Friedreich ataxia (GAA TNR)
Hemochromatosis
Wilson disease
Sickle cell
All glycogen storage diseases
Lysosomal storage diseases (minus Fabry and Hunter, which are XR)
Familial hyperchylomicronemia
Autosomal dominant
Achondroplasia (if inherited, but most patients’ mutations are de novo)
vWD
Phakomatoses (NF1, NF2, TSC, VHL)
Marfan syndrome
MEN syndromes
Hereditary spherocytosis
Huntington disease (CAG TNR)
Myotonic dystrophy (CTG TNR)
Porphyrias
Familial hypercholesterolemia
Familial hypertriglyceridemia
X-linked recessive
G6PD
Hemophilia A + B
Wilson disease
Hemochromatosis
Duchenne + Becker muscular dystrophies
Alport syndrome
Lesch-Nyhan syndrome
Fragile X (CGG TNR)
Fabry disease
Hunter syndrome
X-linked dominant
Kallmann syndrome
Hypophosphatemic rickets
Codominant
Alpha-1-anti-trypsin deficiency
AB blood types
