Genetic Disorders Flashcards Preview

Frank Review Course > Genetic Disorders > Flashcards

Flashcards in Genetic Disorders Deck (77)
Loading flashcards...
1

Connective Tissue Genetic Disorders Table

2

Marfan's Syndrome

 

Connective Tissue

AD

fibrillin abnormalities

(some type I collagen)

FBN1 or TGF-BR2

3

Ehlers-Danlos Syndrome

AD (most common)

Defects in type I and III collagen

COL3A1-type 3

COL1A2-type 7

4

Homocystinuria

AR

Deficiency of the enzyme cystathionine beta-synthase

5

Muchopolysaccharidosis table:

All are AR, except Hunter (XR

alpha-L-iduronidase (Scheie and Hurler)

6

Hunter Syndrome

X-linked Recessive

 

7

Hurler's syndrome

AR

deficiency of the enzyme alpha-l-iduronidase

8

Maroteaux-lamy syndrome

AR

9

Morquio Syndrome

AR

10

San Filippo Syndrome

AR

11

Scheie Syndrome

AR

Deficiency of the enzyme alpha-l-iduronidase

12

Muscular Dystrophies Table

13

Duchenne Muscular Dystrophy

XR

defect on the short arm of chromosome x

Dystrophin Gene

14

Becker Dystrophy

XR

15

Fascioscapulohumeral dystrophy

AD

16

Limb-girdle dystrophy

Ar

17

Steinert Disease

(myotonic dystrophy)

AD

18

Hematologic Disorders with Genetic components Table

19

Hemophilia

Xr

Hemophila A: Factor 8 deficiency

Hemophila B: Factor 9 deficiency

20

Sickle Cell Anemia

Ar

Hemoglobin abnormality

(Hemoglobin S presence)

21

Gaucher's Disease

AR

deficient activity of the enzyme B-glucosidase

(glucocerebrosidase)

22

Hemochormatosis

Ar

23

Niemann-Pick Disease

Ar

accumulation of sphingomyelin in cellular lysosomes

24

Thallassemia

Ar

abnormal production of hemoglobin A

25

Von Willebrands Disease

AD

26

Chromosomal disorders with MSK abnormalities

27

Down Syndrome 

Trisomy 21

28

Angelman Syndrome

Chromosome 15 abnormality

29

Edward Syndrome

trisomy of chromosome 18

30

Fragile X syndrome

x-linked trait

Xq27-28