Genetics Flashcards
Type 1 Dyslipidemias
- chylomicrons
LPL deficiency
No atherosclerosis
abdominal pain, xanthomas
Type 2 Dyslipidemias
LDL
no LDL receptors
Atherosclerosis
tubular (achilles) xanthomas, corneal arcus, xanthelasma
Type 4 Dyslipidemias
VLDL overproduction
pancreatitis
MEN Type 1
Parathyroid+Pituitary+Pancreatic tumors
calcium kidney stones, stomach ulcers
MEN Type 2
parathyroid+medullary thyroid + pheo
MEN Type 3
Ganglioneuromatosis + Med Thyroid + pheo
-marfanoid habitus
marfanoid habitus
men type III
marfans (upward lens sublaxation)
homocystinuria (downwards lens sublaxation + atherosclerosis/stroke/MI)
Tumor Suppressor Genes
p53, Rb, BRCA1, APC
Oncogenes
Abl, C-, L-, N - myc RET HER2/neu bcl2
galactose-1-phosphate
galactosemia
glucocerebroside B-glucosidase
Gaucher Disease
fumarylacetoacetase
hereditary tyrosinemia
cystathionine b-synthase
homocystinuria
iduronate 2-sulfatase
hunter syndrome / MPSI
alpha-iduronidase
hurler syndrome (MPSII)