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diseases and inheritances Flashcards

1
Q

hemophilia b

A

x-linked recessive Factor IX def

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2
Q

huntington’s disease

A

AD triplet expansion

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3
Q

Lesch-Nyhan

A

x-linked recessive def in hypoxanthine phosphoribosyltransferase

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4
Q

Leber hereditary optic neuropathy

A

mitochondrial inheritance

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5
Q

classical galactosemia

A

AR

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6
Q

tuberous sclerosis

A

AD

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7
Q

NF1

A

AD

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8
Q

NF2

A

AD

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9
Q

VHL

A

AD

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10
Q

Ataxia-Telangiectasia

A

AR

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11
Q

List of AD’s (11)

A
  1. ADPKD
  2. FAP
  3. FHC (cholesterol)
  4. hereditary hemorrhagic telangiectasia
  5. hereditary spherocytosis
  6. HD
  7. Marfan
  8. MEN (1, 2A, 2B)
  9. NF1 and 2
  10. TS
  11. VHL
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12
Q

List of AR’s (12)

A
  1. albinism
  2. ARPKD
  3. CF
  4. Glycogen storage d/o’s
  5. hemochromatosis
  6. Kartagener
  7. PKU
  8. SCA (sickle)
  9. sphingolipidoses (except Fabry [XR])
  10. thalassemias
  11. wilson
  12. mucopolysaccharidoses (except Hunter)
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13
Q

List of X-recessive’s (9)

A
  1. Bruton agammaglobulinemia
  2. Wiskott-Aldrich
  3. Fabry
  4. G6Pd def
  5. Ocular albinism
  6. DMD (and Becker)
  7. Hunter
  8. HemophiliaA and B
  9. Ornithine transcarbamylase def
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14
Q

List of Triple expansions (4)

A
  1. HD (CAG)
  2. myotonic dystrophy (CTG)
  3. Friedreich ataxia (GAA)
  4. Fragile X (CGG)
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15
Q

Tay sachs

A

AR

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16
Q

Fabry’s

A

XR

17
Q

ornithine transcarbamylase def

A

XR

18
Q

PKU

A

AR

19
Q

hyperchylomicronemia

A

AR

20
Q

familial hypercholesterolemia

A

AD

21
Q

hypertriglyceridemia

A

AD

22
Q

Three mitochondrial diseases?

A
  1. Leber Hereditary optic neuropathy
  2. myoclonic epilepsy with ragged-red fibers
  3. mitochondrial encephalomyopathy w/lactic acidosis and stroke=like episodes (MELAS)
23
Q

what inheritance pattern important for mitochondrial disease phenotype variability?

A

heteroplasmy

Step 1 Andre (42 decks)

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