Conditions Q1

Question 1

Rare genetic disease of the intestine that causes severe diarrhea and an inability to absorb nutrients

Answer 1

Microvillus inlusion disorder

Question 2

Disorder of the small intestine involving the loss of the microvilli brush border

Answer 2

Celiac disease

Question 3

Polycystic kidney disease involves dysfunction in this

Answer 3

Primary cilia

Question 4

Primary cilia dyskinesia involving the absence of dynein arms, leading to failure of the mucociliary transport in the respiratory tract

Answer 4

Kartagener’s syndrome

Question 5

Primary cilia dyskinesia involving the malformation of radial spokes and dynein arms, affecting ciliary function in the respiratory tract

Answer 5

Young’s Syndrome

Question 6

Bacteria that target’s ZO-1 in occluding junctions, disrupting signaling and increasing permeability of the cell junction

Answer 6

Helicobacter Pylori

Question 7

Helicobacter pylori targets this

Answer 7

ZO-1 in occluding junctions

Question 8

Abnormal desmosome function caused by autoimmune reactions against specific desmogleins that reduce cell to cell adhesion

Answer 8

Blistering disease

Question 9

Blistering disease involves abnormal functioning of this

Answer 9

Desmosomes

Question 10

Condition involving reduced Vitamin C for lysysl hydroxylase, leading to weak collagen chains

Answer 10

Scurvy

Question 11

Disease involving reduced copper, which is used as a cofactor for lysyl oxidase, preventing collagen fibril formation

Answer 11

Menkes disease

Question 12

Genetic defect in the pro-alpha 1 or 2 genes of type 1 procollagen, affecting the glycine amino acid in the triple helix formation.
Leads to sponatenous fractures of bone, blue sclera, dentinogenesis imperfecta, hearing loss.

Answer 12

Osteogenesis imperfecta

Question 13

Osteogenesis imperfecta involves genetic defects in this

Answer 13

Type 1 procollagen

Question 14

Genetic defect involving type III collagen’s peptidyl lysine hydroxylase.
Leads to hypermobile joints, excessive stretchability of skin, rupture of bowel or large arteries.

Answer 14

Ehler’s-Danlos syndrome

Question 15

Ehler’s Danlos syndrome involves a genetic defect in this

Answer 15

Type III collagen’s peptidyl lysine hydroxylase

Question 16

Caused by mutations in alpha 5 collagen chain on Xq22-24, leading to incorrect collagen chain formation. Occurs in kidney, ear, eye.
Causes hematuria, sensorineural deafness, conical deformation of lens anterior surface (lenticonus).

Answer 16

Alport Syndrome

Question 17

Alport syndrome involves mutations to this

Answer 17

Alpha 5 collagen chain

Question 18

Condition caused by the absence of fibrillin microfibrils during elastogenesis, resulting in formation of elastin sheets.
Can cause enlargement of the aorta.

Answer 18

Marfan’s Syndrome

Question 19

Marfan’s syndrome involves an absence of these

Answer 19

Fibrillin microfibrils

Question 20

Viral classification of Poxviruses

Answer 20

dsDNA viruses

Question 21

Viral classification of Coronaviruses

Answer 21

+ssRNA viruses

Question 22

Viral classification of Influenza

Answer 22

-ssRNA viruses

Question 23

Autosomal recessive disease characterized by premature aging due to mutations in WRN gene (a DNA helicase)
Affects DNA repair, recombination, and maintaining telomere length and stability

Answer 23

Werner syndrome