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Flashcards in Loss of Function Deck (26)
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1

Duchenne Muscular Dystrophy

DMD Xp21.2 - large deletions

2

DMD Xp21.2

Duchenne Muscular Dystrophy

3

Duchenne Muscular Dystrophy - Symptoms

Boys with abnormal gait at 3-5 years, Calf pseudohypertrophy, Gower maneuver, Progressive involvement, of respiratory muscles, Median age of death 18 years, Women may have cardiomyopathy

4

Boys with abnormal gait at 3-5 years, Calf pseudohypertrophy, Gower maneuver, Progressive involvement, of respiratory muscles, Median age of death 18 years, Women may have cardiomyopathy

Duchenne Muscular Dystrophy - Symptoms

5

Osteogenesis Imperfecta Type 1

COL1A1 (collagen type 1 alpha 1) nonsense or stop mutation

6

COL1A1 (collagen type 1 alpha 1) nonsense or stop mutation

Osteogenesis Imperfecta Type 1

7

Osteogenesis Imperfecta Type 1 - Symptoms

multiple fractures, Blue sclera, mild short stature, adult onset hearing loss

8

multiple fractures, blue sclera, mild short stature, adult onset hearing loss

Osteogenesis Imperfecta Type 1 - Symptoms

9

Retinoblastoma

RB1 on chr. 13

10

RB1 on chr. 13

Retinoblastoma

11

Retinoblastoma - Symptoms

malignant tumor of retina

12

malignant tumor of retina

Retinoblastoma - Symptoms

13

Hereditary neuropathy with liability to pressure palsies

PMP22 gene

14

PMP22 gene

Hereditary neuropathy with liability to pressure palsies

15

Hereditary neuropathy with liability to pressure palsies - symptoms

limbs fall asleep

16

limbs fall asleep

Hereditary neuropathy with liability to pressure palsies - symptoms

17

mycrocephaly and mental retardation, seizures, gait disorders, tremors 

Phenylketonuria (PKU)

AR

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

18

Phenylketonuria (PKU)

mycrocephaly and mental retardation, seizures, gait disorders, tremors 

AR

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

19

Marfan Syndrome

 

Mutation: FBN1 (fibrillin extracellular matrix protein) dominant negative activity mut. reduce # of microfibrils, AD

20

Mutation: FBN1 (fibrillin extracellular matrix protein) dominant negative activity mut. reduce # of microfibrils, AD

Marfan Syndrome

21

Marfan Syndrome

systemic disorder of connective tissue in eye, skeletal, cardio Diagnosis: aortic root enlargement, ectopia lentis

22

systemic disorder of connective tissue in eye, skeletal, cardio Diagnosis: aortic root enlargement, ectopia lentis

Marfan Syndrom Symptoms

23

NF1 tumor supressor gene LOF must have mut. in both genes to show phenotype even though considered AD

Neurofibromatosis Type 1

24

Neurofibromatosis Type 1

NF1 tumor supressor gene LOF must have mut. in both genes to show phenotype even though considered AD

25

Neurofibromatosis Type 1 - Symptoms

6 cafe-au-lait spots, 2 neurofibromas plexiform, neuro fibroma, optic glioma, >2 lisch nodules

26

6 cafe-au-lait spots, 2 neurofibromas plexiform, neuro fibroma, optic glioma, >2 lisch nodules

Neurofibromatosis Type 1 - Symptoms