Genetic Disorders (inheritance + defects)

Question 1

Polycystic kidney disease

Answer 1

Can be both AR and AD;

AD:85% mut in PKD1; 15% mut in PKD2

Question 2

Cystic fibrosis

Answer 2

AR:

Defective CFTR on ch.7

Question 3

Familial adenomatous polyposis

Answer 3

AD:

Mut APC gene on ch.5q

Question 4

Bruton agammaglobulinemia

Answer 4

XLR:

Defect in BTK tyrosine kinase gene

Question 5

Albinism

Answer 5

AR:

Impaired tyrosinase activity or tyrosine transport, or impaired NC migration

Question 6

Wiskott-Aldrich syndrome

Answer 6

XLR:

Mut in WAS gene

Question 7

Glycogen storage diseases

Answer 7

AR

Question 8

Hemochromatosis

Answer 8

AR:

C282Y or H63D mut on HFE gene

Question 9

Familial hypercholesterolemia

Answer 9

AD:

Defective/absent LDL receptor

Question 10

Hereditary hemorrhagic telangiectasia (aka Osler-Weber-Rendu)

Answer 10

AD:

Blood vessel disorder

Question 11

Fabry disease

Answer 11

XLR:

alpha-galactosidase A deficiency

Question 12

G6PD deficiency

Answer 12

XLR:

Defect in G6PD, duh.

Question 13

Kartagener syndrome

Answer 13

AR:

Dynein arm defect

Question 14

Hurler syndrome

Answer 14

AR:

alpha-L-iduronidase deficiency

Question 15

Ocular albinism

Answer 15

XLR

Question 16

Lesch-Nyhan syndrome

Answer 16

XLR:

Absent HGPRT

Question 17

Hereditary spherocytosis

Answer 17

AD:

Spectrin or ankyrin defect

Question 18

Huntington disease

Answer 18

AD:

CAG repeat on ch.4 –> hungtingtin mut

Question 19

Marfan syndrome

Answer 19

AD:

Mut of fibrillin-1

Question 20

Phenylketonuria (PKU)

Answer 20

AR:

Deficient phenylalanine hydroxylase or tetrahydrobiopterin cofactor

Question 21

Sickle cell anemia

Answer 21

AR:

Glu–>Val at position 6 in Beta chain

Question 22

Duchenne muscular dystrophy

Answer 22

XLR

Frameshift mut in dystrophin gene

Question 23

Becker muscular dystrophy

Answer 23

XLR

Point mut in dystrophin gene

Question 24

Neurofibromatosis type 1

Answer 24

AD:

Mut in NF1 gene on ch.17

Question 25

Neurofibromatosis type 2

Answer 25

AD: | Mut in NF2 gene on ch.22

Question 26

Hunter syndrome

Answer 26

XLR: | Iduronate sulfatase deficiency

Question 27

Hemophilia A

Answer 27

XLR: | Factor VIII deficiency

Question 28

Hemophilia B

Answer 28

XLR: | Factor IX deficiency

Question 29

Ornithine trancarbamylase deficiency

Answer 29

XLR

Question 30

Sphingolipidoses (Gaucher, Niemann-Pick, Tay-Sachs, Krabbe, Metachromatic leukodystrophy)

Answer 30

AR (except Fabry disease which is XLR)

Question 31

Thalassemias

Answer 31

AR

Question 32

Wilson disease

Answer 32

AR: | Defect in ATP7B gene on ch.13

Question 33

Tuberous sclerosis

Answer 33

AD with incomplete penetrance + variable expression

Question 34

von Hippel-Lindau disease

Answer 34

AD: | Deletion of VHL gene on ch.3

Question 35

Fragile X syndrome

Answer 35

XLD: | CGG repeat --> FMRP mut

Question 36

Myotonic dystrophy

Answer 36

AD: | CTG repeat --> expanded DMPK gene

Question 37

Friedreich ataxia

Answer 37

AR: | GAA repeat --> FXN mut

Question 38

Achondroplasia

Answer 38

Sporadic or AD: | FGFR3 activation

Question 39

von Willebrand disease

Answer 39

AD: | Deficient vWF

Question 40

Sideroblastic anemia

Answer 40

XL (most common): | Mut in delta-ALA synthase gene

Question 41

Hereditary nonpolyposis colorectal cancer (HNPCC/Lynch syndrome)

Answer 41

AD: | Mut of DNA mismatch repair genes

Question 42

Peutz-Jeghers syndrome

Answer 42

AD

Question 43

MEN syndromes

Answer 43

AD: | ret gene mutation in Men2A and Men2B

Question 44

SCID

Answer 44

XL (most common): defective IL-2R gamma chain | AR: adenosine deaminase deficiency

Question 45

Hyper-IgM syndrome

Answer 45

XLR: | Defective CD40L on Th cells

Question 46

Chronic granulomatous disease

Answer 46

XLR: | Defective NADPH oxidase

Question 47

Hyperchylomicronemia(type 1)

Answer 47

AR: | Lipoprotein lipase deficiency or altered APOC-II

Question 48

Hypertriglyceridemia (type 4)

Answer 48

AD: | Hepatic overproduction of VLDL

Question 49

Cystinuria

Answer 49

AR: | Defect of PCT and aa transporter for cysteine, ornithine, lysine, and arginine

Question 50

Hypophosphatemic rickets

Answer 50

XLD: | increased phosphate wasting at proximal tubule

Question 51

Mitochondrial myopathies

Answer 51

Mitochondrial inheritance, duh. | Failure in oxidative phosphorylation

Question 52

Fructose metabolism disorders

Answer 52

AR