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Integrative Week Two > Genetics > Flashcards

Flashcards in Genetics Deck (30):
1

Type 1 Dyslipidemias

- chylomicrons
LPL deficiency
No atherosclerosis
abdominal pain, xanthomas

2

Type 2 Dyslipidemias

LDL
no LDL receptors
Atherosclerosis
tubular (achilles) xanthomas, corneal arcus, xanthelasma

3

Type 4 Dyslipidemias

VLDL overproduction
pancreatitis

4

MEN Type 1

Parathyroid+Pituitary+Pancreatic tumors
calcium kidney stones, stomach ulcers

5

MEN Type 2

parathyroid+medullary thyroid + pheo

6

MEN Type 3

Ganglioneuromatosis + Med Thyroid + pheo
-marfanoid habitus

7

marfanoid habitus

men type III
marfans (upward lens sublaxation)
homocystinuria (downwards lens sublaxation + atherosclerosis/stroke/MI)

8

Tumor Suppressor Genes

p53, Rb, BRCA1, APC

9

Oncogenes

Abl,
C-, L-, N - myc
RET
HER2/neu
bcl2

10

galactose-1-phosphate

galactosemia

11

glucocerebroside B-glucosidase

Gaucher Disease

12

fumarylacetoacetase

hereditary tyrosinemia

13

cystathionine b-synthase

homocystinuria

14

iduronate 2-sulfatase

hunter syndrome / MPSI

15

alpha-iduronidase

hurler syndrome (MPSII)

16

galactocerebroside alpha-galactosidase

Krabbe Disease

17

hypoxanthine phosphoribosyltransferase

Lesch-Nyhan syndrome

18

brached chain ketoacid dehydrogenhase

maple syrup urine disease

19

medium chain acyl-CoA dehydrogenase

MCAD deficiency

20

glycogen phohsporylase

mcardle disease

21

methylmalonyl-coa mutase

methylmalonic acidemia

22

sphingomyelinase

niemann-pick disease

23

phenylaline hydroxylase

PKU

24

acid maltase

pompe disease

25

hexosaminidase A

tay sach's disease

26

glucose-6-phosphate

von Gierke Disease

27

Niemann-Pick Disease

MR
HSM
Cherry-red macula

28

Tay Sachs Disease

developmental delay - 3months
weak muscle - 3months
Cherry-red macula

29

Duchenne muscular dystrophy GENE

dystrophin (large, stabalizes sacrolemma)
X-linked

30

SERPINA gene

alpha-1-antitrypsin deficiency