Everything Else

Question 1

Retinoblastoma

Answer 1

RB1 on chr. 13 protein regulates cell cycle 90% penetrance, AD

Question 2

RB1 on chr. 13 protein regulates cell cycle 90% penetrance, AD

Answer 2

Retinoblastoma

Question 3

Diseases with reduced penetrance

Answer 3

Retinoblastoma, BRCA mutation, Huntington disease

Question 4

Hemophilia A

Answer 4

Mutation: F8 deficiency of factor VIII, chr. Xq28

Question 5

Mutation: F8 deficiency of factor VIII, chr. Xq28

Answer 5

Hemophilia A

Question 6

Hemophilia A - Symptoms

Answer 6

Spontaneous bleeds into joints, muscles or intracranial. excessive bruising, prolonged bleeding after injury, delayed wound healing

Question 7

Phenylketonuria (PKU)

Answer 7

PAH mutation–> high levels of Phe because not converted to Tyr

Question 8

PAH mutation–> high levels of Phe because not converted to Tyr

Answer 8

Phenylketonuria (PKU)

Question 9

Phenylketonuria (PKU) - Symptoms

Answer 9

mycrocephaly and mental retardation, seizures, gait disorders, tremors

Question 10

mycrocephaly and mental retardation, seizures, gait disorders, tremors

Answer 10

Phenylketonuria (PKU) - Symptoms

Question 11

alpha1- Antitrypsin Deficiency (ATD)

Answer 11

Biological: SERPINA1 (serine protease inhibitor) targets elastase–> neutrophils in lung
Molecular: Z allele–> misfolded protein aggragated in liver, S allele–> unstable protein less effective
AR

Question 12

Biological: SERPINA1 (serine protease inhibitor) targets elastase–> neutrophils in lung
Molecular: Z allele–> misfolded protein aggragated in liver, S allele–> unstable protein less effective
AR

Answer 12

alpha1- Antitrypsin Deficiency (ATD)

Question 13

alpha1- Antitrypsin Deficiency (ATD) - Symptoms

Answer 13

increased risk of developing emphysema, late onset, increased risk of liver cirrhosis and liver cancer worse in smokers

Question 14

increased risk of developing emphysema, late onset, increased risk of liver cirrhosis and liver cancer worse in smokers

Answer 14

alpha1- Antitrypsin Deficiency (ATD) - Symptoms

Question 15

Tay-Sachs disease

Answer 15

lysosomal storage disorder, inability to degrade Gm2 ganglioside–> accumulation in neurons of CNS.
AR

Question 16

lysosomal storage disorder, inability to degrade Gm2 ganglioside–> accumulation in neurons of CNS.
AR

Answer 16

Tay-Sachs disease

Question 17

Tay-Sachs disease - Symptoms

Answer 17

infants appear normal until 3-6 months then get muscle weakness, decreased attentiveness, increase startle response. later get nurodegeneration–seizures, vison and hearing loss, diminished mental function, paralysis

Question 18

infants appear normal until 3-6 months then get muscle weakness, decreased attentiveness, increase startle response. later get nurodegeneration–seizures, vison and hearing loss, diminished mental function, paralysis

Answer 18

Tay-Sachs disease - Symptoms

Question 19

Sandhoff disease

Answer 19

Mutation: Mutation of HEXB (insertion)
Biological: Dysfunctional beta subunit –> build up of Gm2 ganglioside
AR

Question 20

Mutation: Mutation of HEXB (insertion)
Biological: Dysfunctional beta subunit –> build up of Gm2 ganglioside
AR

Answer 20

Sandhoff disease

Question 21

Sandhoff disease - Symptoms

Answer 21

Same syptoms as Tay-Sachs: muscle weakness, neurodegeneration (seizures, vision and hearing loss, diminishing mental function, “cherry-red spot” in the eyes.

Question 22

muscle weakness, neurodegeneration (seizures, vision and hearing loss, diminishing mental function, “cherry-red spot” in the eyes.

Answer 22

Sandhoff disease - Symptoms

Question 23

Familial Hypercholesterolemia

Answer 23

AD, Locus heterogeneity, Mutation: 3 genes LDLK (highest rate), APOB, PCSK9

Question 24

AD, Locus heterogeneity, Mutation: 3 genes LDLK (highest rate), APOB, PCSK9

Answer 24

Familial Hypercholesterolemia

Question 25

Familial Hypercholesterolemia - Symptoms

Answer 25

High cholesterol and LDL levels, Xanthomas (fat build up under skin), premature coronary artery disease and death

Question 26

High cholesterol and LDL levels, Xanthomas (fat build up under skin), premature coronary artery disease and death

Answer 26

Familial Hypercholesterolemia - Symptoms

Question 27

Autosomal Dominant Polycystic Kidney Disease

Answer 27

Mutation: PKD1 (chr 16p13.3) PKD2 (chr 4q22.1) polycystin 1 and 2 Truncated protein
AD

Question 28

Mutation: PKD1 (chr 16p13.3) PKD2 (chr 4q22.1) polycystin 1 and 2 Truncated protein
AD

Answer 28

Autosomal Dominant Polycystic Kidney Disease

Question 29

Autosomal Dominant Polycystic Kidney Disease - Symptoms

Answer 29

Bilateral renal cysts cysts in other organs vascular abnormalities End stage renal disease 50% of 60yo

Question 30

Bilateral renal cysts cysts in other organs vascular abnormalities End stage renal disease 50% of 60yo

Answer 30

Autosomal Dominant Polycystic Kidney Disease - Symptoms

Question 31

Fabry Disease

Answer 31

x-linked
reduced sweating, heat stroke, progressive renal failure, risk of heart attacks and strokes, hypertrophy of cardiac tissue, neurologic pain crisis in children

Question 32

reduced sweating, heat stroke, progressive renal failure, risk of heart attacks and strokes, hypertrophy of cardiac tissue, neurologic pain crisis in children

Answer 32

Fabry Disease

Question 33

Fabry Disease-Treatment

Answer 33

Recombinant enzyme replacement therapy

helps with alpha-galactosidase deficiency