genetic diseases Flashcards

1
Q

disorders with multifactorial inheritance (2)

A

cleft lip/palate

pyloric stenosis

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2
Q

heart defect associated with trisomy 21

A

AV canal

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3
Q

most common cause of trisomy 21

A

non-disjunction from mother

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4
Q

paternal cause of trisomy 21

A

robertsonian translocation (long arm of 21 onto 14 or 22)

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5
Q

defect in marfan syndrome

A

fibrillin-1 (scaffolding for elastin)

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6
Q

defect in EDS

A

collagen, type depends on which EDS

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7
Q

EDS type 4

A

type III procollagen

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8
Q

heterozygotes vs. homozygotes for familial hypercholesterolemia

A

hetero- disease in 40s/50s

homo- disease in teens-20s

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9
Q

most common genetic defect in CF

A

DF508 (Cl transporter)

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10
Q

tay-sachs gene

A

HEXA

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11
Q

tay-sachs enzyme

A

hexosaminidase A

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12
Q

accumulates in tay-sachs

A

GM2 gangliosides in lysosomes of neurons

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13
Q

sandhoff disease

A

HEXA and HEXB

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14
Q

Niemann-Pick genes

A

NPC1, NPC2, SMPD1

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15
Q

Niemann-Pick enzyme

A

sphingomyelinase

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16
Q

accumulates in Niemann-Pick

A

sphingomyelin in neurons, liver, spleen, bone marrow, others

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17
Q

characteristic histology for Niemann-Pick

A

concentric, lamented myelin bodies on EM

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18
Q

Gaucher enzyme

A

glucocerebrosidase

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19
Q

accumulates in Gaucher

A

glucocerebroside in WBCs, RBCs in bone marrow, spleen, liver

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20
Q

3 forms of gaucher

A

infantile (II)- severe
juvenile (III)- moderate
Adult (I)- mild

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21
Q

Hurler

A

autosomal recessive, absent a-L-iduronidase

22
Q

Hunter

A

X-linked, absent a-L-iduronidase

23
Q

Fabry disease enzyme

A

a-galactodisase

24
Q

accumulates in Fabry disease

A

ceramide trihexoside

25
Q

Fabry disease symptoms

A

peripheral neuropathy
angiokeratomas
cardiac and renal disease

26
Q

to remember glycogen storage diseases

A

Very Poor Carbohydrate Metabolism A

27
Q

Von Gierke (inheritance, enzyme)

A

AR

glucose-6-phosphatase

28
Q

von gierke clinical

A

glucose from glycogen cannot be released from liver= hepatomegaly, severe fasting hypoglycemia

29
Q

Pompe (inheritance, enzyme)

A

AR

lysosomal a-1,4-glucosidase (acid maltase)

30
Q

Pompe clinical

A

cardiomegaly (also damages liver, muscle)

31
Q

Cori disease (inheritance, enzyme)

A
AR
debranching enzyme (a-1,6-glucosidase)
32
Q

cori disease clinical

A

milder form of von gierke- hepatomegaly, hypoglycemia

33
Q

McArdle disease (inheritance, enzyme)

A

AR

skeletal mm glycogen phosphorylase

34
Q

McArdle clinical

A

unable to use glycogen in muscle= cramping, decreased exercise tolerance

35
Q

Andersen disease (inheritance, enzyme)

A

AR

branching enzyme

36
Q

Andersen disease clinical

A

liver, cardiac disease

37
Q

defect in Alkaptonuria/ochronosis

A

lacking homogentisic acid oxidase= unable to degrade phenylalanine and tyrosine

38
Q

Alkaptonuria/ochronosis symptoms

A

black urine
black spots
rheumatism

39
Q

NF1 gene

A

17

40
Q

NF2 gene

A

22

41
Q

NF1 clinical

A

cafe au lait spots, sarcomas, lisch nodules

42
Q

NF2 clinical

A

cafe au lait spots, sarcomas, bilateral schwannomas

43
Q

trisomy 18

A

rocker bottom feet, low set eats, overlapping fingers

44
Q

trisomy 13

A

holoprosencephaly, cleft lip/palate, rocker bottom feet, polydactyly

45
Q

klienfelters defects

A

XXY= mental retardation, gynecomasta, small testes, infertility

46
Q

turner syndrome

A

XO= streak ovaries, webbed neck, coaractation of the aorta

47
Q

fragile X repeat

A

CGG on Xq27

48
Q

fragile X clinical

A

long face, large testicles, mental retardation

49
Q

huntington disease repeat

A

CAG in huntingtin on chromosome 4

50
Q

friederichs ataxia repeat

A

GAA on chromosome 9

51
Q

prader-willi

A

deletion of paternal 15q12

52
Q

angelman

A

deletion of maternal 15q21