Random Diseases

Question 1

What disease is due to defective mannose phosphorylation on glycoproteins?

Answer 1

I-Cell Disease

Question 2

Where is the defect in I-Cell Disease?

Answer 2

Golgi - defect in N-acetylglucosaminyl-1-phosphotransferase

decreased mannose-6-phosphate on glycoproteins

Question 3

Problems forming alpha triple helix of collagen results in what disorder?

Answer 3

Osteogenesis Imperfecta

Question 4

Problems in cross-linking collagen results in what disorder?

Answer 4

Ehlers Danlos

Question 5

Copper deficiency can mess up what part of collagen synthesis?

Answer 5

lysyl oxidase (copper is co-factor)
cross-linking to make collagen fibrils

Question 6

MC type of ED syndrome?

Answer 6

hyper mobility type

Question 7

Classical type of ED syndrome is caused by mutation in what collagen?

Answer 7

Collagen V

Question 8

Vascular type of ED Syndrome is caused by mutation in what collagen?

Answer 8

Collagen III

Question 9

Menkes Disease inheritance

Answer 9

XR

Question 10

Defective gene in Menkes Disease

Answer 10

impaired copper absorption and transport due to defective Menkes protein (ATP7A)

Question 11

Menkes disease affects what part of collagen synthesis?

Answer 11

Leads to activity of lysyl oxidase (copper is cofactor)

cross-linking

Question 12

Clinical features of Menkes Disease?

Answer 12

brittle, “kinky” hair, growth retardation, and hypotonia.

Question 13

Huntington Disease repeat?

Answer 13

CAG

Question 14

Myotonic Dystrophy repeat?

Answer 14

CTG

Question 15

Friedreich Ataxia repeat?

Answer 15

GAA

Question 16

Fragile X Syndrome repeat?

Answer 16

CGG

Question 17

VHL gene chromosome

Answer 17

3

Question 18

ADPKD (PDK2) chromosome

Answer 18

4

Question 19

Cri Du Chat Chromosome

Answer 19

5

Question 20

Hemochromatosis chromosome

Answer 20

6

Question 21

Renal Cell Carcinoma chromosome

Answer 21

3

Question 22

Achondroplasia chromosome

Answer 22

4

Question 23

FAP chromosome

Answer 23

5

Question 24

Huntington Disease Chromosome

Answer 24

4

Question 25

Williams Syndrome chromosome

Answer 25

7

Question 26

Cystic Fibrosis chromosome

Answer 26

7

Question 27

Friedreich Ataxia chromosome

Answer 27

9

Question 28

Wilms Tumor chromosome

Answer 28

11

Question 29

β-globin gene defects (eg, sickle cell disease, β-thalassemia)

Answer 29

11

Question 30

Wilson Disease chromosome

Answer 30

13

Question 31

Retinoblastoma (RB1) chromosome

Answer 31

13

Question 32

Prader Willi and Angelman Syndrome chromosome

Answer 32

15

Question 33

BRCA2 chromosome

Answer 33

13

Question 34

Marfan Syndrome Chromosome

Answer 34

15

Question 35

ADPKD (PKD1) Chromosome

Answer 35

16

Question 36

α-globin gene defects (eg, α-thalassemia) chromosome

Answer 36

16

Question 37

NF1 chromosome (neurofibromin)

Answer 37

17

Question 38

BRCA1 chromosome

Answer 38

17

Question 39

Patau Syndrome chromosome

Answer 39

13

Question 40

Edwards Syndrome Chromosome

Answer 40

18

Question 41

NF2 chromosome (merlin, schwannomin)

Answer 41

22