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Flashcards in Everything Else Deck (33)
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1

Retinoblastoma

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

2

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

Retinoblastoma

3

Diseases with reduced penetrance

Retinoblastoma, BRCA mutation, Huntington disease

4

Hemophilia A

Mutation: F8 deficiency of factor VIII, chr. Xq28

5

Mutation: F8 deficiency of factor VIII, chr. Xq28

Hemophilia A

6

Hemophilia A - Symptoms

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

7

Phenylketonuria (PKU)

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

8

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

Phenylketonuria (PKU)

9

Phenylketonuria (PKU) - Symptoms

mycrocephaly and mental retardation, seizures, gait disorders, tremors

10

mycrocephaly and mental retardation, seizures, gait disorders, tremors

Phenylketonuria (PKU) - Symptoms

11

alpha1- Antitrypsin Deficiency (ATD)

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

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

alpha1- Antitrypsin Deficiency (ATD)

13

alpha1- Antitrypsin Deficiency (ATD) - Symptoms

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

14

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

alpha1- Antitrypsin Deficiency (ATD) - Symptoms

15

Tay-Sachs disease

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

16

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

Tay-Sachs disease

17

Tay-Sachs disease - Symptoms

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

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

Tay-Sachs disease - Symptoms

19

Sandhoff disease

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

20

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

Sandhoff disease

21

Sandhoff disease - Symptoms

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

22

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

Sandhoff disease - Symptoms

23

Familial Hypercholesterolemia

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

24

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

Familial Hypercholesterolemia

25

Familial Hypercholesterolemia - Symptoms

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

26

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

Familial Hypercholesterolemia - Symptoms

27

Autosomal Dominant Polycystic Kidney Disease

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

28

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

Autosomal Dominant Polycystic Kidney Disease

29

Autosomal Dominant Polycystic Kidney Disease - Symptoms

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

30

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

Autosomal Dominant Polycystic Kidney Disease - Symptoms