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ABGC2 > Disorders (4) > Flashcards

Disorders (4) Flashcards

1
Q

What is the mode of inheritance of familial hypercholesterolemia?

A

AD

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2
Q

What percentage of patients with hypercholisterolemia have FH?

A

~5%

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3
Q

In addition to hypercholesterolemia, what are 2 features found in FH?

A
  • xanthomas

- arcus cornea (ring around iris)

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4
Q

If someone has 2 LDLR mutations, what is their life span?

A

~30y

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5
Q

What is the inheritance pattern of glucose-6-phosphate dehydrogenase deficiency?

A

XL

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6
Q

Name 2 diseases which confer malaria resistance

A
  • sickle cell

- G6PD

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7
Q

What happens when someone with G6PD has fava beans?

A

may have episode of acute hemolytic anemia

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8
Q

What are the symptoms of Hirschsprung disease?

A

intestinal abnormalities lead to constipation, abdominal distention

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9
Q

Is Hirschsprung disease usually isolated or syndromic?

A

usually isolated, but occur with other anomalies as part of a chromosomal abnormality

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10
Q

Are males or females more likely to be affected with Hirschsprung disease?

A

4: 1
male: female

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11
Q

What is the inheritance pattern of long-segment Hirschsprung disease?

A

usually AD

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12
Q

What is the inheritance pattern of short-segment Hirschsprung disease?

A

usually AR

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13
Q

What exactly is holoprosencephaly?

A

the forebrain fails to develop into 2 hemispheres

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14
Q

What is the most common congenital brain defect?

A

holoprosencephaly

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15
Q

What are 7 genetic causes of holoprosencephaly?

A
  • T18
  • T13
  • triploidy
  • SLOS
  • 18p-
  • Meckel-Gruber
  • Aicardi
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16
Q

Is holoprosencephaly more common in males or females?

A

males

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17
Q

What is the relationship between the SHH gene and holoprosencephaly?

A

can cause AD form with incomplete penetrance and variable expressivity

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18
Q

What are 2 pregnancy exposures that can cause holoprosencephaly?

A
  • statins

- maternal diabetes (1% risk)

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19
Q

What is the inheritance pattern of nonsyndromic holoprosencephaly?

A

usually AD, but can be AR or XL

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20
Q

Which HLA locus alleles are protective and which are risk factors for insulin-dependent diabetes?

A

D3 and D4 alleles seem to be risk factors

D2 negates effect of above when both are present

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21
Q

What exactly is intrauterine growth restriction?

A

when a fetus is less than the 10th percentile for weight

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22
Q

Under what 2 circumstances is a chromosomal disorder likely to be the cause of IUGR?

A
  • early

- symmetrical

23
Q

What is the inheritance pattern of Tay-Sachs disease?

A

AR

24
Q

What is the AJ carrier frequency of Tay-Sachs?

A

1/30

25
Q

What is the molecular cause of a milder form of Tay-Sachs?

A

when one null allele is present and one allele with low residual HEXA activity is present

26
Q

What is the timeline of symptoms/death in Tay-Sachs?

A
  • normal until 3-6m
  • neurological degeneration
  • death by 2-4y
27
Q

What ocular features are part of Tay-Sachs disease?

A

cherry-red spots

28
Q

What occurs biochemically in people with hemochromatosis?

A

iron overload

29
Q

What is the inheritance pattern of hereditary hemochromatosis?

A

AR

30
Q

What is the carrier frequency of hereditary hemochromatosis in white Americans?

A

1/9

31
Q

Are males or females more frequently affected with hereditary hemochromatosis?

A

males

32
Q

What is the common mutation in hereditary hemochromatosis?

A

HFE gene Cys282Tyr

33
Q

What are 6 later features of hereditary hemochromatosis?

A
  • liver issues
  • diabetes
  • cardiomyopathy
  • hypogonadism
  • arthritis
  • skin bronzing
34
Q

What is the average age of onset of hereditary hemochromatosis?

A

males: 40-60y
females: after menopause

35
Q

What is the inheritnce pattern of Marfan syndrome?

A

AD

36
Q

What percentage of Marfan syndrome cases are de novo?

A

25-30%

37
Q

What is the MASS phenotype?

A

marfanoid

  • Mitral valve prolapse
  • Myopia
  • Aortic enlargement
  • Skeletal and Skin findings
38
Q

What are 6 categories of abnormalities in Marfan?

A
  • skeletal
  • ocular
  • cardiovascular
  • pulmonary
  • skin
  • dural (spinal cord)
39
Q

What is the locus associated with Miller-Dieker syndrome?

A

17p13.3

40
Q

Which gene in the Miller-Dieker locus is thought to be most important?

A

LIS1

41
Q

What is the lifespan in Miller-Dieker syndrome?

A

2y

42
Q

What are 4 features of Miller-Dieker syndrome?

A
  • brain dysgenesis (lissencephaly)
  • hypotonia
  • FTT
  • facial dysmorphism
43
Q

What does MERRF stand for?

A

myoclonic epilepsy with ragged-red fibers

44
Q

What is the inheritance pattern of MERRF?

A

maternal / mitochondrial

45
Q

Which type of diabetes has a high prevalence in Pima Native Americans?

A

non-insulin-dependent

46
Q

What genetic variant increases risk for non-insulin-dependent diabetes?

A

TCF7L2 variant

47
Q

What is the AJ carrier frequency of Canavan disease?

A

1/82

48
Q

What is the natural history of Canavan disease?

A
  • hypotonia, DD
  • never sit, walk, speak
  • macrocephaly
  • life expectancy: teens
49
Q

What does dysautonomia mean?

A

dysfunction of the autonomic nervous system

50
Q

In what disease are there no tears?

A

familial dysautonomia

51
Q

What is the AJ carrier frequency of Gaucher disease?

A

1/17

52
Q

What are 4 features of Gaucher disease?

A
  • CNS problems
  • bone features
  • splenomegaly
  • hepatomegaly
53
Q

What is the lifespan of Gaucher disease?

A

anywhere from early childhood to young adulthood

ABGC2 (12 decks)

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