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FA 2 Biochem > Syndromes > Flashcards

Syndromes Flashcards

1
Q

Von Hippel Lindau

  • components
  • chromosome
  • gene
A

hemangioblastoma (highly vascular w/ hyper chromatic nuclei)
angiomatosis
bilateral renal cell carcinoma
pheochromocytoma

chr 3

VHL gene

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2
Q

Tuberous Sclerosis

- components

A 
HAMARTOMAS
Hamartomas
Angiofibromas (red brown papules on face)
Mitral regurg
Ash leaf spots
Rhabdomyoma (cardiac)
(Tuberous sclerosis)
O=autosomal dOminant
MR
Angiolipoma (renal)
Seizures, Shagreen patches (thick leathery dimpled skin like orange peel)
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3
Q

NF1

  • components
  • chromosome
  • gene
A 
cafe au lait spots
lisch nodules (pigmented iris)
cutaneous neurofibromas (tumors from nerves under skin)
optic gliomas
pheochromocytoma

chr 17

NF1 tumor suppressor gene

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4
Q

NF2

  • components
  • chr
  • gene
A

bilateral acoustic schwannomas
juvenile cataracts
meningiomas
ependymomas

chr 22

NF2 gene

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5
Q

pheochromocytomas associated with

A

VHL

NF1

MEN2A

MEN2B

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6
Q

MEN1

A

pituitary adenoma
parathyroid
pancreas

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7
Q

MEN2A

A

adrenal (pheochromocytoma)
thyroid (medullary thyroid carcinoma)
parathyroid hyperplasia

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8
Q

MEN2B

A

adrenal (pheochromocytoma)
thyroid (medullary thyroid carcinoma)
marfan / mucosal neuroma

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9
Q

meningioma associated with

A

NF2

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10
Q

ependymoma associated with

A

NF2

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11
Q

hemangioblastoma

A

VHL

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12
Q

cafe au lait spots

A

NF1

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13
Q

juvenile cataracts

A

NF2

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14
Q

bilateral acoustic schwannomas

A

NF2

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15
Q

angiofibromas

A

tuberous sclerosis

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16
Q

shagreen patches

A

tuberous sclerosis

17
Q

bilateral renal cell carcinoma

A

VHL

18
Q

angiolipomas

A

tuberous sclerosis

19
Q

mitral regurg

A

tuberous sclerosis

20
Q

heart problem in tuberous sclerosis

A

mitral regurg

21
Q

medullary thyroid carcinoma

A

MEN2A

MEN2B

22
Q

parathyroid hyperplasia

A

MEN2A

23
Q

parathyroid tumors

A

MEN1

24
Q

Sturge-Weber syndrome

A 
STURGE
Sporadic, port wine Stain
Tram track calcifications
Unilateral
Retardation
GNAQ gene
Epilepsy

FA 2 Biochem (2 decks)

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