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Boards Study- Biochem > AD, AR, X-linked recessive, autosomal trisomy disorders > Flashcards

AD, AR, X-linked recessive, autosomal trisomy disorders Flashcards

1
Q

Autosomal dominant polycystic kidney dz

A
  • AD

- PKD1=chromosome 16

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2
Q

Familial adenomatous polyposis

A
  • AD

- Chromosome 5 (“ad-en-om-a-tous” has 5 syllables)

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3
Q

Familial hypercholesterolemia

A

-AD

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4
Q

Hereditary hemorrhagic telangiesctasia

A

-AD

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5
Q

Hereditary spherocytosis

A

-AD

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6
Q

Huntington’s Disease

A
  • AD
  • Chromosome 4 (“Hunt 4 food”)
  • CAG triplet repeat
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7
Q

Marfan syndrome

A
  • AD

- Fibrillin-1 gene

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8
Q

Multiple endocrine neoplasias

A
  • AD

- Men 2A and 2B a/w ret gene

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9
Q

NF-1 (aka von Recklinghausen dz)

A
  • AD

- Chromosome 17

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10
Q

NF-2

A
  • AD

- Chromosome 22

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11
Q

Tuberous sclerosis

A

-AD

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12
Q

von Hippel-Lindau dz

A
  • AD

- Chromosome 3

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13
Q

Albinism

A

-AR

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14
Q

Autosomal Recessive Polycystic Kidney Dz

A

-AR

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15
Q

Cystic fibrosis

A
  • AR

- CFTR gene on chromosome 7

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16
Q

Glycogen storage diseases

A

-AR

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17
Q

Hemochromatosis

A

-AR

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18
Q

Kartagener syndrome

A

-AR

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19
Q

Mucopolysaccharidosis (except Hunter syndrome)

A

-AR

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20
Q

PKU

A

-AR

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21
Q

Sickle cell anemia

A

-AR

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22
Q

Sphingolipidoses (except Fabry dz)

A

-AR

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23
Q

Thalassemias

A

-AR

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24
Q

Wilson dz

A

-AR

25
Q

Bruton agammaglobulinemia

A

-XLR

26
Q

Wiskott-Aldrich syndrome

A

-XLR

27
Q

Fabry dz

A

-XLR

28
Q

G6PD deificiency

A

-XLR

29
Q

Ocular albinism

A

-XLR

30
Q

Lesch-Nyhan syndrome

A

-XLR

31
Q

Duchenne and Becker Muscular dystrophy

A

-XLR

32
Q

Hunter syndrome

A

-XLR

33
Q

Hemophilia A and B

A

-XLR

34
Q

Ornithine transcarbamylase deficienct

A

-XLR

35
Q

What gene is deleted in Duchenne MD?

A

-Dystrophin

36
Q

Genetically, what’s the difference btwn Duchenne and Becker MD?

A

Duchenne is caused by a FRAMESHIFT mutation while Becker is caused by a POINT mutation

37
Q

What are the common trinucleotide repeat diseases and what are their repeats?

A
  • Huntington dz: CAG repeat
  • Myotonic dystrophy: CTG
  • Friedreich ataxia: GAA
  • Fragile X Syndrome: CGG
38
Q

Down syndrome

A

Trisomy 21

39
Q

Edwards syndrome

A

Trisomy 18

40
Q

Patau syndrome

A

Trisomy 13

41
Q

Von Gierke disease

A

AR

42
Q

Pompe disease

A

AR

43
Q

Cori disease

A

AR

44
Q

McArdle disease

A

AR

45
Q

Maple syrup urine disease

A

AR

46
Q

PKU

A

AR

47
Q

Homocystinuria

A

AR

48
Q

Cystinuria

A

AR

49
Q

Alkaptonuria

A

AR

50
Q

Ornithine transcarbamylase deficiency

A

X-linked recessive

51
Q

Fabry disease

A

X-linked recessive

52
Q

Gaucher disease

A

AR

53
Q

Niemann-Pick disease

A

AR

54
Q

Tay-Sachs disease

A

AR

55
Q

Krabbe disease

A

AR

56
Q

Metachromatic leukodystrophy

A

AR

57
Q

Hurler syndrome

A

AR

58
Q

Hunter syndrome

A

X-linked recessive

Boards Study- Biochem (2 decks)

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