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MF2 Final study > MF2 Quiz 1 conditions > Flashcards

MF2 Quiz 1 conditions Flashcards

1
Q

Mutation in sickle cell anemia occurs in this gene

A

Chromosome 11 beta-globin gene

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2
Q

Type of point mutation that occurs in Sickle cell anemia

A

Missense (amino acid switch; Val –> Glu)

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3
Q

Type of point mutation that occurs in thalassemia

A

Nonsense

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4
Q

In thalassemia, there is a lack in production of this

A

Beta-globin

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5
Q

2 mutations that can cause Beta-thalassemia

A

Nonsense point mutation
Abnormal splicing due to mutation in non-coding regions

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6
Q

Some breast cancers have extra gene copies of this

A

Her2 gene (product is a growth factor receptor)

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7
Q

Entire regions of these two chromosomes are transposed in chronic myeloid leukemia

A

9 and 22

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8
Q

In chronic myeloid leukemia, this promoter becomes adjacent to ABL (tyrosine kinase) and acts as a perpetual on switch

A

BCR

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9
Q

In chronic myeloid leukemia, BCR promoter becomes adjacent to this
Results in unregulated cell proliferation

A

ABL (a tyrosine kinase)

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10
Q

Type of mutation that occurs in chronic myeloid leukemia

A

Translocation
(Entire regions of chromosome 9 and 22 are transposed)

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11
Q

Disease caused by an expansion of CTG repeats at the 3’ untranslated region of DMPK gene, a protein kinase
Results in muscle generation with slowed relaxation phase

A

Myotonic dystrophy

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12
Q

Myotonic dystrophy is broadly caused by this

A

Expansion of trinucleotide repeats

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13
Q

In myotonic dystrophy, there is an expansion of CTG repeats in this gene

A

DMPK (protein kinase)

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14
Q

Cilia-related protein that is responsible for sensing pressure and fluid flow, especially in the kidney

A

Polycystin

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15
Q

Autosomal dominant polycystin disease involves a loss of function of polycystin due to mutation in this gene

A

PKD-1

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16
Q

Adenomatous polyposis is caused by a mutation in the adenomatous polyposis coli (APC) gene, and exhibits this inheritance pattern

A

Autosomal dominant
(although both gene copies must be lost)

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17
Q

Adenomatous polyposis coli (APC) is involved in cellular signaling and this pathway

A

WNT pathway (promotes cell proliferation –> cancer)

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18
Q

a1-Antitrypsin (A1AT) deficiency exhibits this type of inheritance

A

Autosomal recessive

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19
Q

A1AT protein turns off this activity
Deficiency results in inappropriate digestion of patient’s tissue proteins

A

WBC protease

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20
Q

Glucose-6-phosphate dehydrogenase deficiency exhibits this inheritance

A

X-linked recessive

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21
Q

X-linked recessive condition that results in inability to inactivate ROS, shortening RBCs lifespan

A

Glucose-6-phosphate dehydrogenase deficiency

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22
Q

Type of lysosomal storage disease resulting from inability to degrade glycosaminoglycans

A

Mucopolysaccaridoses

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23
Q

All mucopolysaccharidoses result in these 2 main symptoms

A

Coarse facial features and Skeletal dysplasia

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24
Q

X-linked recessive deficiency of iduronate-2-sulfatase

A

Hunter syndrome

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25
Q

Mucopolysaccharidosis involving no corneal clouding and Death >10 years, some into adulthood

A

Hunter syndrome

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26
Q

autosomal recessive deficiency of alpha-1-iduronidase

A

Hurler syndrome

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27
Q

Hunter syndrome is due to a deficiency in this enzyme

A

Iduronate-2-sulfatase

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28
Q

Hurler syndrome is due to a deficiency in this enzyme

A

Alpha-1-iduronidase

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29
Q

Mucopolysaccharidosis involving Normal appearance at birth, Hepatosplenomegaly begins at 6-12 months, Corneal clouding, Heart valve insufficiency, Macroglossia, Skeletal dysplasia and coarseness
Death 6-10 years

A

Hurler syndrome

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30
Q

Which mucopolysaccharidosis involves corneal clouding and earlier death?
(More severe form)

A

Hurler syndrome

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31
Q

Autosomal recessive sphingolipidosis caused by a Glucocerebrosidase deficiency

A

Gaucher disease

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32
Q

Gaucher disease is due to a deficiency in this enzyme that is involved in degradation of cell membranes of RBCs and WBCs

A

Glucocerebrosidase

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33
Q

In Gaucher disease, this compound accumulates in macrophages and bone marrow

A

Glucocerebrosides

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34
Q

Levels of RBC, WBC, and platelets in Gaucher disease

A

All low (cytopenia)

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35
Q

Wrinkled tissue paper look from distended lysosomes is seen in this disease

A

Gaucher disease

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36
Q

Wrinkled tissue paper appearance to macrophages in Gaucher disease is caused by an accumulation of this in lysosomes

A

Glucocerebrosides

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37
Q

Sphingolipidosis that involves adult onset and 20x risk of Parkinson’s disease
Splenomegaly, cytopenias, bone fracture risk

A

Gaucher disease

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38
Q

Autosomal recessive sphingolipidosis caused by a beta-hexosaminidase A deficiency

A

Tay-Sachs disease

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39
Q

Enzyme deficient in Tay Sachs disease

A

Beta-hexosaminidase A

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40
Q

Tay-Sachs disease results in an accumulation of this in all cells of the body

A

GM2 gangliosides

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41
Q

Most important symptom in Tay-Sachs disease

A

Neuronal accumulation of Gm2 gangliosides –> neurodegeneration

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42
Q

Sphingolipidosis where patients are normal appearance and physical exam at birth except for markedly increased startle reflex

A

Tay-Sachs disease

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43
Q

Tay-Sachs disease is most common in this ethnic population

A

East European Jewish

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44
Q

East European Jewish population have a high rate of these 2 diseases

A

Tay-Sachs disease and Niemann-Pick disease

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45
Q

In Tay-Sachs disease, GM2 gangliosides accumulate in the brain and result in these 2 main symptoms

A

Macrocephaly
Cherry-red macula

46
Q

Which of the following sphingolipidoses involves a cherry-red macula?
Gaucher, Tay-Sachs, Niemann-Pick

A

Tay-Sachs > and Niemann-Pick Type A

47
Q

Which of the following sphingolipidoses involves adult onset?
Gaucher, Tay-Sachs, Niemann-Pick

A

Gaucher disease

48
Q

Sphingolipidosis that is an autosomal recessive deficiency of sphingomyelinase

A

Niemann-Pick disease

49
Q

In Niemann-Pick disease, sphingomyelin accumulate in lysosomes of these 2 organs

A

Brain and liver

50
Q

In Niemann-Pick disease, this accumulates in lysosomes of brain and liver

A

sphingomyelin

51
Q

Whorled myelin bodies are characteristic of this sphingolipidosis

A

Tay-Sachs disease

52
Q

Type of Niemann-Pick disease that involves severe mental deterioration; death by 3 years
CNS deterioration, hepatosplenomegaly, lymphadenopathy

A

Type A

53
Q

Type of Niemann-Pick disease that involves Hepatosplenomegaly and minimal CNS involvement
Milder; survive to adulthood

A

Type B

54
Q

Type of Niemann-Pick disease that involves alveolar thickening (leading to dyspnea (short of breath) and low pO2)

A

Type B

55
Q

Lifespan of Hurler disease

A

6-10 years

56
Q

Lifespan of Hunters disease

A

> 10 years, some into adulthood

57
Q

Lifespan of Gaucher disease

A

Near normal lifespan

58
Q

Lifespan of Tay Sachs disease

A

3 years

59
Q

Lifespan of Niemann-Pick Type A disease

A

3 years

60
Q

Lifespan of Niemann-Pick Type B disease

A

Adulthood

61
Q

Macrophage foam cell filled with sphingomyelin is seen in this disease

A

Niemann-Pick disease

62
Q

Autosomal recessive deficiency of muscle phosphorylase
Involves exercise intolerance, fatigue, inability to mobilize glucose (no elevation of lactate with exercise), muscle cramps/pain with exercise (elevated CK due to muscle damage)
Muscle cell damage –> myoglobin release –> myoglobinuria

A

McArdle disease

63
Q

Enzyme deficient in McArdle disease

A

Muscle glycogen phosphorylase

64
Q

Autosomal recessive deficiency of hepatic glucose-6-phosphatase
Inability to mobilize glucose from liver to blood (hypoglycemia), Hepatomegaly

A

Von Gierke disease

65
Q

Enzyme deficient in Von Gierke disease

A

Hepatic glucose-6-phosphatase

66
Q

Autosomal recessive deficiency of alpha-glucosidase, a lysosomal enzyme (multisystem disorder)
Inability to cleave glycogen (glucose deficiency in heart)
Muscle weakness, cardiomyopathy (death in early childhood), vacuolar myopathy

A

Pompe disease

67
Q

Enzyme deficient in Pompe disease

A

Alpha-glucosidase (lysosomal glycogen enzyme)

68
Q

Condition caused by a point mutation resulting in replacement of a glycine residue with another amino acid in collagen molecule
Results in weak collagen, which is a major structural protein in all solid connective tissues
Frequent bone fractures, even in utero
Hearing loss due to defective ossicles
Translucent ocular sclera
Poor dentition

A

Osteogenesis imperfecta

69
Q

Translucent ocular sclera is seen in this disorder of collagen

A

Osteogenesis imperfecta

70
Q

First amino acid in the collagen side chain that when mutated prevents the formation of stable, compact collagen fibers
Is mutated to other amino acid in Osteogenesis imperfecta

A

Glycine

71
Q

Autosomal dominant disorder caused by a defect in fibrillin protein
Involves dolichostenomelia (overgrowth of long bones), Pectus excavatum/carinatum, scoliosis, long face, prominent supraorbital ridges
Cardiovascular (mitral valve prolapse, aortic regurgitation, aortic aneurysm)

A

Marfans syndrome

72
Q

Protein that is a scaffold for elastic fibers in ECM
Defective in Marfans syndrome

A

Fibrillin

73
Q

Inheritance pattern of Marfans syndrome

A

Autosomal dominant

74
Q

Abnormal fibrillin in Marfans syndrome results in decreased sequestration and increased levels of this which is involved in inflammation

A

TGF-beta

75
Q

Symptom seen in Marfans syndrome where weak ciliary zonules lead to dislocation of lens

A

Ectopia lentis

76
Q

Defective fibrillin protein in Marfans syndrome leads to defect in this type of tissue, causing cardiovascular problems

A

Connective tissue

77
Q

Genetic disorder resulting in defective collagen
AR, AD, X-linked forms
Produced by many genes (genetic heterogeneity)
Very variable but common thread is fragile collagen
Susceptible to trauma, poor wound healing, susceptible to organ rupture, corneal rupture, hypermobile joints (dislocations), hyperextensible skin

A

Ehlers-Danlos syndrome

78
Q

Autosomal dominant disorder with loss/reduced function of LDL cholesterol receptor
Homozygosity has additive effect (codominance)
Early cardiovascular diseases
Tendon xanthomas

A

Familial hypercholesterolemia

79
Q

Ectopia lentis is seen in this disorder caused by a protein defect

A

Marfans syndrome

80
Q

X-linked disorder (but does not show classic X-linked inheritance)
FMR gene on Xq27.3 has increased numbers of CGG trinucleotides, which elongate in maternal oocyte
Males: Dysmorphic ears, Long face with prominent jaw, Macroorchidism after puberty, Mental retardation
Females: May show mental impairment or learning disability and premature ovarian failure

A

Fragile X syndrome

81
Q

Fragile X syndrome is caused by this

A

FMR gene on Xq27.3 has increased numbers of CGG trinucleotides

82
Q

In Fragile X syndrome, trinucleotides on FMR gene Xq27.3 elongate in this

A

Maternal oocyte

83
Q

Autosomal dominant condition caused by trinucleotide repeat mutation
Expansion occurs during spermatogenesis
Middle age neurodegenerative changes
Due to misfolded proteins which are neurotoxic
Hereditary but not congenital

A

Huntington disease

84
Q

Trinucleotide repeat expansion in Huntington disease occurs during this

A

Spermatogenesis

85
Q

Condition where maternal genes of region 15q12 are silenced by imprinting and paternal genes are lost by deletion

A

Prader-Willi syndrome

86
Q

Condition where paternal genes of region 15q12 are silenced by imprinting and maternal genes are lost by deletion

A

Angelman syndrome

87
Q

Are paternal or maternal genes lost by deletion in Prader-Willi syndrome?

A

Paternal

88
Q

Are paternal or maternal genes lost by deletion in Angelman syndrome?

A

Maternal

89
Q

Does this describe Prader-Willi or Angelman syndrome:
Intellectual disability, Short stature, Hyperphagia (eat a lot), Obesity, Small hands/feet, Hypogonadism

A

Prader-willi syndrome

90
Q

Does this describe Prader-Willi or Angelman syndrome:
Intellectual disability, Microcephaly, Ataxia, Seizures, Inappropriate laughter

A

Angelman syndrome

91
Q

Condition with Mitochondrial inheritance that involves progressive bilateral loss of central vision

A

Leber hereditary oculomotor neuropathy

92
Q

Inheritance pattern of Leber hereditary oculomotor neuropathy

A

Mitochondrial inheritance

93
Q

Condition with Characteristic craniofacial features: epicanthal folds, upward slanted palpebral fissures, flat face, flat occiput, speckled irises (Brushfield spots), mild microcephaly, flat nasal bridge, small sometimes misshapen ears
Congenital heart defects in 50%, GI defects, Musculoskeletal defects

A

Down syndrome

94
Q

Trisomy 21 describes this condition

A

Down syndrome

95
Q

Chromosomal abnormality in Down syndrome

A

Trisomy 21

96
Q

Chromosomal abnormality in Patau syndrome

A

Trisomy 13

97
Q

Trisomy 13 describes this condition

A

Patau syndrome

98
Q

Condition described by:
Death by age 1 usually
Severe intellectual disability, Rocker bottom foot, Microphthalmia, Microcephaly, Cleft lip and palate, Polydactyly, Cutis aplasia, congenital heart disease, polycystic kidney disease, Omphalocele

A

Patau syndrome

99
Q

Condition described by: Death by age 1 usually
Prominent occiput, Rocker bottom feet, Intellectual disability, Clenched fists, low set ears, Micrognathia, congenital heart disease, Omphalocele, Myelomeningocele

A

Edward syndrome

100
Q

Chromosomal abnormality in Edward syndrome

A

Trisomy 18

101
Q

Trisomy 18 refers to this condition

A

Edward syndrome

102
Q

DiGeorge syndrome involves this chromosomal abnormality

A

22q11.2 deletion

103
Q

CATCH-22: Cardiac, Abnormal face, Thymic hypoplasia, Cleft palate, Hypoparathyroid -22
Describes this chromosomal abnormality

A

22q11.2 deletion (e.g. DiGeorge syndrome)

104
Q

Condition characterized by:
Thymic hypoplasia results in T-cell deficiency immune defects
Low lymphocyte counts → more viral infections
Hypoparathyroidism → low calcium → tetany (muscle rigidity)
Heart defects: tetralogy and persistent truncus arteriosus

A

DiGeorge syndrome (22q11.2 deletion)

105
Q

Condition caused by Deletion of chromosome 5 short arm
Laryngeal problems (cat cry)
Hypotonia, hypertelorism, high arches palate, intellectual disability, microcephaly
Survive to adulthood but higher mortality in infancy

A

Cri du Chat syndrome

106
Q

Chromosomal abnormality in Cri du Chat syndrome

A

Deletion of chromosome 5 short arm

107
Q

Condition characterized by:
Laryngeal problems (cat cry)
Hypotonia, hypertelorism, high arches palate, intellectual disability, microcephaly
Survive to adulthood but higher mortality in infancy

A

Cri du Chat syndrome

108
Q

Condition caused by Excess X chromosome material in a male
Invariably have hypogonadism - small testes, genitalia, cryptorchidism
Reduced testosterone results in high FSH and LH
Elevated estrogens may promote feminization phenotype
Pubic hair distribution, gynecomastia (also increased risk of breast cancer), body habitus
Tall stature (excess copies of SHOX gene), mild cognitive disability, developmental delay, speech difficulties, deficient gross motor skills, extragonadal germ cell tumor, autoimmune disease

A

Klinefelter syndrome

109
Q

Chromosomal abnormality in Klinefelter syndrome

A

Excess X chromosome material in a male

110
Q

Condition caused by X chromosome monosomy
Short stature, cardiovascular abnormalities, lymph obstruction of neck (webbing or cystic hygroma), ovarian dysgenesis, reduced breast development, broad chest with wide spaced nipples, normal intelligence
Noted at birth: Lymphedema and webbed neck
Somatic abnormalities related to Xp: Fewer copies of SHOX gene (short stature homeobox gene), which regulates linear growth → short stature
Gonadal abnormalities related to Xq

A

Turner syndrome

111
Q

Chromosomal abnormality in Turner syndrome

A

X chromosome monosomy

112
Q

Condition where main features noted at birth include lymphedema and webbed neck

A

Turner syndrome

MF2 Final study (28 decks)

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