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MOD Exam 1 > Friggin' Genetic Disorders > Flashcards

Friggin' Genetic Disorders Flashcards

1
Q

What chromosome is affected in CF?

A

7q31.2

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2
Q

symptoms of CF

A

lung disease, pancreatic insufficiency, steatorrhea, intestinnal obatruction, male infertility

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3
Q

what population is affected by cf

A

caucasians

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4
Q

What population is affected by PKU

A

caucasians, from scandinavian descent, not AA or jewish

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5
Q

What are characteristic symptoms are found in patients with PKU

A

mousy/musty odor in urine

severe mental retardation and hypopigmentation hair and skin, eczema

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6
Q

What enzyme is affected in phenylketonuria

A

phenylalanine hydroxylase

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7
Q

What enzyme is affected in tay sachs disease

A

hexoadminidase

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8
Q

What diseases are Autosomal dominant

A

huntington disease, Marfan syndrome

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9
Q

Autosomal recessive diseases

A

CF, sickle cell disease

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10
Q

X linked recessive diseases

A

hemophilia, Fabry disease

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11
Q

X linked dominant disease

A

fragile X syndrome

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12
Q

codominant eamples

A

ABO blood group, alpha -1 antitrypsin deficiency

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13
Q

Mitochondrial inheritance disease example

A

Leber hereditary optic neuropathy

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14
Q

What enzyme is affected in galactosemia

A

Galactose 1 phosphate uridyltransferase def

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15
Q

What happens in alpha 1 antitrypsin deficiency

A

unable to inactivate neutrophil elastase in lung, leads to emphysema from a failre to inactivate a tissue damaging substrate

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16
Q

What is the disease mechanism in Familial hypercholesterolemia

A

decreased synthesis/function of LDL receptor

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17
Q

What is the structure alteration in Thalassemias

A

mutation in globin gene affects amount of globin chains synthesized

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18
Q

What is affected by antimalarial primaquine

A

G6PD, leads to severe hemolytic anemia

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19
Q

What chromosomes are affected in Marfan syndrome

A

15Q21.1

5Q23.31 (less so)

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20
Q

What genes are affected in Marfan syndrome

A

FBN1

FBN2 (less so)

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21
Q

What is the mechanism of Marfans’ syndrome

A

loss of fibrillin leads to loss of structural support in microfibril rich connective tissue, and TGF-B is activated excessively

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22
Q

What syndrome tends to have subluxation/dislocation of the lens?

A

Marfan syndrome

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23
Q

What is the mechanism of EDS

A

defect in synthesis/structure of fibrillar collagen

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24
Q

What is a unique feature of EDS compared to Marfans

A

Skin is stretchable, fragile, and vulnerable to trauma. Leads to internal complications such of rupture of colon and large arteries.

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25
Q

Class I/II inheritance pattern

A

autosomal dominant

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26
Q

Classic I/II clinical findings

A

skin and joint hypermobility, atrophic scars, easy bruising

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27
Q

Classic I/II Gene defects

A

COL5A1, COL5A2

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28
Q

Vascular (IV) clinical findings

A

thin skin, arterial/uterine rupture, bruising, small joint hyperextensibility

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29
Q

Vascular IV inheritance pattern

A

Autosomal dominant

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30
Q

Vascular IV gene defects

A

COL3A1

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31
Q

Kyphoscoliosis VI clinical findings

A

hypotonia, joint laxity, congenital scoliosis, ocular fragility

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32
Q

Kyphoscoliosis VI inheritance pattern

A

Autosomal recessive

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33
Q

Kyphoscoliosis VI gene defects

A

Lysyl hydroxylase

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34
Q

Clinical finding in familial hypercholesterolemia

A

Tendinous xanthomas, increased plasma cholesterol levels, increased risk of MI

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35
Q

What is primary accumulation in lysosomal storage Dzs

A

catabolism of substrate of missing enzyme is incomplete, so it accumulates within the lysosome

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36
Q

What are the 2 general approaches to treat lysosomal storage diseases

A

Enzyme replacement therapy

Substrate reduction therapy

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37
Q

What is the most common form of GM2 gangliosidosis

A

Tay Sachs disease

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38
Q

What chromosome is affected in tay sachs disease

A

Chr 15, in alpha subunit locus.

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39
Q

What does Tay Sachs disease manifest with

A

severe deficiency of hexosaminidase A

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40
Q

What population is affected in Tay Sachs disease

A

Ashkenazi Jews (Eastern european)

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41
Q

What are the clinical manifestations of Tay SWachs disease

A

cherry red spot in macula
6 mo motor and mental deterioration, obtunded, flaccidity, blindness and dementia
1-2 yo vegetative state, 2-3 death

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42
Q

Where does GM2 ganglioside accumulate

A

neurons, retina, heart, liver, spleen

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43
Q

What tests determine if GM2 ganglioside accumulations are present

A

fat stains oil red O

Sudan black B positive

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44
Q

What causes Niemann-Pick DZ

A

lysosomal accumulation of sphingomyelin due to inherited deficiency of sphingomyelinase

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45
Q

What population is affected by Niemann Pick DZ

A

Ashkenazi Jews, AR

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46
Q

What chr is affected in Niemann Pick DZ

A

Chr 11p15.4 (expressed more on maternal part)

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47
Q

What is the most severe form of Niemann Pick DZ

A

Type A, severe infantile form.

48
Q

Clinical manifestations of Niemann Pick DZ type A

A

extensive neuro involvement, mkd visceral accumulations of sphingomyeline, progressive wasted, symptoms by 6mo, death b4 3 yo

49
Q

Clinical manifestations of Niemann Pick DZ type B

A

organomegaly, No CNS involvement, reach adulthood

50
Q

Clinical manifestation of Niemann Pick DZ type C

A

Most common, affects NPC1. Progressive neurological damage, ataxia, vertical supranuclear gaze palsy, dystonia, dysarthria, psychomotor regression

51
Q

Morphology of Niemann Pick DZ (histo)

A

zebra bodies, massive splenomegaly,

52
Q

Gaucher Dz affects

A

glucocerebrosidase mutation

53
Q

Etiology of Gaucher DZ

A

accumulation of glucocerebroside, activation of macrophages so that IL-1, IL-6 and TNF are released

54
Q

What are the manifestations of Type 1 gaucher dz

A

No CNS involvement, spleen and bone sx, slt & slt life span

55
Q

What population is affected in Type IGaucher DZ

A

European Jews

56
Q

Clinical manifestations of Type II lysosomal storage

A

infantile cerebral pattern, progressive CNS invovlement, early death, hepatosplenomegaly

57
Q

What population is affected in Type II gaucher DZ

A

Not jewish europeans

58
Q

Clinical manifestations of Type III Gaucher DZ

A

systemic involvement with progressive DNZ dz, begins in adolescence/early adulthood

59
Q

Morphology of Gaucher DZ

A

distended phagocytic cells in liver/spleen or BM, which leads to bone erosion, typically see cells that look like crumpled tissue paper.
Spleen is huge.

60
Q

Treatement of Gaucher DZ

A

allogeneic hematopoietic stem cell transplant; recombinant enzyme replacement

61
Q

What is affected in Mucopolysaccharidoses

A

enzymes degrading glgycosaminoglycans are deficient

62
Q

Inheritance pattern of MPS

A

autosomal recessive, except Hunter, which is X linked recessive

63
Q

Clinical manifestations of MPS

A

coarse facial features, clouding of the cornea, joint stiffness, mental retardation

64
Q

Clinical manifestation of Hurler syndrome

A

hepatosplenomegaly by 6-24 mo, death 6-10 yo, cardiovascular complications, growth retardation, coarse facial features, skeletal abn

65
Q

Clinical manifestation of Hunter syndrome

A

MPS II, No corneal clouding, milder clinical course

66
Q

Morphology of MPS

A

in mononuclear phagocytic cells, endothelial cells, have balloon cells that have a clear cytoplasm and multiple vacuoles with swollen lysomsomes. Lamellated zegra bodies.

67
Q

Enzyme deficiency in Von Gierke

A

glucose 6 phosphatase

68
Q

Clinical features of Von Gierke

A

failure to thrive, hepatomegaly, renomegaly, hypoglycemia, hyperlipidemia, bleeding tendency

69
Q

Pompe disease enzyme deficiency

A

lysosomal acid maltase

70
Q

clinical features of pompe disease

A

massive cardiomegaly, muscle hypotonia, cardiorespiratory failure

71
Q

Enzyme deficiency in McArdle dz

A

muscle phosphorylase

72
Q

Clinical manifestation of McArdle

A

cramps after exercise, no increased blood lactate after exercise

73
Q

Morphology of pompe dz

A

glycogen filled myocardial cells

74
Q

What is an example of multifactorial inheritance?

A

cleft lip, cleft palate, and neural tube defects

75
Q

What is a ring chromosome

A

break of chr occurs at both ends of the chr, with fusion of the damaged ends.

76
Q

What is paracentric inversion

A

inversion involving only one arm of the chromosome

77
Q

What is pericentric inversion

A

breaks are on opposite sides of centromere

78
Q

What is isochromosome

A

When one arm of the chromosome is lost, so the remaining arm is duplicated. Means you have two short arms only or two long arms only.

79
Q

What is robertsonian translocation

A

translocation between 2 acrocentric chromosome, breaks are closer to the centromeres of each chromosome.

80
Q

What is Trisomy 21 generally caused by

A

robertsonian translocation

81
Q

What influences trisomy 21

A

Robertsonian translocation

Maternal age

82
Q

What are the clinical manifestations of trisomy 21

A

flat facial profile, oblique palepebral fissures, epicanthic folds. IQ of 25-50. Congenital heart disease, and have an increased risk of developing acute leukemia.

83
Q

What kind of immune response do patients with trisomy 21 have

A

abnormal one, predisposes them to serious infections of lungs and thyWroid autoimmunity

84
Q

What chromosome is affected in Edward’s syndrome

A

18

85
Q

Clinical manifestations of Edwards syndrome

A

low set ears, overlapping fingers, congenital heart defects, micrognathia, prominent occiput

86
Q

What chromosome is affected in Patau’s syndrome

A

13

87
Q

Clinical manifestations of Patau’s syndrome

A

Microphthalmia, polydactyly, microcephaly, cleft lip and palate, renal defects

88
Q

What chromosomal deletion can lead to DiGeorge Syndrome and Velocardiofacial syndrome

A

22q11.2

89
Q

Clinical manifestations of DiGeorge syndrome

A

thymic hypoplasia, T cell immunodeficiency, parathyroid hypoplasia (leads to hypocalcemia, cardia malformations and mild facial anomalies)

90
Q

Clinical manifestations of Velocardial syndrome

A

facial dymorphism, prominent nose, cleft palate, cardiiovascular anomalies and learning disabilities

91
Q

What is CATCH 22 for DiGeorge syndrome

A 
Cardiac abnormality
abnormal facies
thymic aplasia
cleft palate
hypocalcemia
92
Q

What is lyonization

A

X chromosome is compacted to make a Barr Body, which makes it inactive.

93
Q

What increases the likelihood of mental retardation

A

of X chromosomes

94
Q

Chromosomal abnormalities associated with Klinfelter syndrome

A

XXY

95
Q

Clinical manifestations of Klinefelter syndrome

A

eunuchoid body habitus with long legs, small atrophic testes and small penis, gynecomastia, lower IQ.

Increased risk of Type 2 DM and metabolic syndrome, mitral valve prolapse. Leads to male infertility and increased risk of breast cancer.

96
Q

Chromosomal abnormality of Turner syndrome

A

complete/partial monosomy of X chr.

97
Q

Clinical manifestations of turner syndrome

A

cystic hygroma, swelling of nape of neck due to lymph stasis. congenital heart disease, cardiovascular abnormalities, short stature, cubitus valgus, amenorrhea, hypothyroidism, glucose intolerance, obesity and insulin resistance.

98
Q

What kind of ovaries are found in patients with Turner syndrome

A

Fibrotic ovaries

99
Q

What gene and locus are affected in Fragile X syndrome

A

FMRI and X27.3

100
Q

What gene and locus are affected in Huntington disease

A

HTT and 4p16.3

101
Q

What trinucleotide repeat is in Fragile X syndrome

A

CGG

102
Q

What trinucleotide repeat is in Huntington disease

A

CAG

103
Q

What is a morphological hallmark of trinucleotide repeat mutations

A

accumulation of aggregated mutant proteins in large intranuclear inclusions

104
Q

Clinical manifestations of Fragile X syndrome

A 
long face with a large mandible
large everted ears
large testicles
hyperextensible joints
high arched palate
mitral valve prolapse
105
Q

What is anticipation

A

clinical features of fragile X syndrome worsen with each successive generation, and mutation becomes worse with each generation as it is passed on.

106
Q

What defines carrier males of Fragile X syndrome

A

20% of males who carry Fragile X mutation but are clinically and cytogenetically normal. Transmit trait through all phenotypically normal daughters to affected grandchildren.

107
Q

How many females are affected in fragile X syndrome

A

30-50 percent of carrier females are affected.

108
Q

What is huntington’s disease characterized by

A

autosomal dominant disease, that has progressive movement disorders/dementia.

109
Q

What is huntington’s disease caused by

A

degeneration of striatal neurons. Fro polyglutamine trinucleotide repeat expansion disease.

110
Q

What is the threshold effect

A

minimum number of mutant mtDNA that must be present in a cell/tissue before oxidative dysfunction gives rise to disease

111
Q

What is an example of a mitochondrial gene disorder

A

Leber hereditary optic neuropathy

112
Q

Clinical manifestations of Leber hereditary optic neuropathy

A

bilateral loss of central vision, started between ages 15 and 35. Leads to eventual blindness. Cardiac conduction and minor neurologic manifestations may also occur.

113
Q

What is the chromosomal abnormality of Prader-Willi syndrome

A

Imprinting of paternal allele. Interstitial deletion of band q12 in long arm of chromosome 15.

114
Q

Chromosomal abnormality of Angelman Syndrome

A

Imprinting of maternal allele

115
Q

Clinical manifestations of Prader-Willi syndrome

A

mental retardation, short stature, hypotonia, profound hyperphagia, obesity, small hands and feet, hypogonadism

116
Q

Clinical manifestations of Angelman syndrome

A

mentally retarded, ataxic gait, seizures, and inappropriate laughter. Happy puppets.

MOD Exam 1 (1 decks)

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