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Path 2 exam 2 > Ch 5 Genetic Disorders > Flashcards

Ch 5 Genetic Disorders Flashcards

1
Q

Mendelian Disorders

A

highly penetrant, mutations in single gene, large effects, follows Mendelian inheritance

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2
Q

Chromosomal Disorders

A

high penetrance, alterations in autosomes or sex chromosomes

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3
Q

Complex multigenic disorders

A

multipe varient forms, varying penetrance, accumulation of several polymorphisms = disease state

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4
Q

Conservative missense mutations

A

have little to no effect on the function of the protein

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5
Q

Nonconservative missense mutation

A

change the function of the protein (ie sickle cell anemia)

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6
Q

Mutations within non coding sequences

A

defective transcription/translation

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7
Q

deletions and insertions

A

frameshift mutation , everything downstream is effected

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8
Q

trinucleotide repeat mutations

A

amplification of a sequence of 3 nucleotides throughout generatons ie Fragile X syndrome

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9
Q

almost all inborn error of metabolism are what type of mutation?

A

autosomal recessive

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10
Q

abnormal fibrillin protein d/t mutation in FBN1 on chromosome 15

A

Marfan syndrome

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11
Q

Pt is tall, long extremities, prominent supraorbital ridges, scoliosis, ectopia lentis, mitral valve prolapse

A

Marfan symdrome

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12
Q

deleterious effect on vascular smooth muscle in Marfan syndrome is d/t what?

A

excessive TGF beta secretion d/t fibrillin deficiency

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13
Q

Skin is hyper extensible, extremely stretchable, fragile and vulnerable to trauma. Joints are hypermobile. Connective tissue is fragile.

A

Ehlers-Danlos Syndrome

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14
Q

defective synthesis of structure of fibrillar cartilage

A

Ehlers-Danlos Syndrome

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15
Q

Kyphoscoliosis type of EDS

A

autosomal recessive, most common

deficient lysyl hydroxylase enzymes which is needed for collagen synthesis

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16
Q

Vacular type of EDS

A

autosomal dominant

abnormalities in type III collagen (blood vessels and viscera)

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17
Q

Arthrochalasia type of EDS

A

autosomal dominant

defect in conversion of type I procollagen to collagen

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18
Q

Dermatosparaxis type

A

autosomal recessive

defect in conversion of type I procollagen to collagen

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19
Q

Classic type EDS

A

mutations in type V collagen

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20
Q

mutation in gene for LDL receptor causes

A

familial hypercholesterolemia

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21
Q

elevated plasma cholesterol, premature atherosclerosis, xanthomas, and increased risk of MI

A

familial hyperhcolesterolemia

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22
Q

inability to catabolize GM2 gangliosides d/t mutation in alpha subunit locus on chromosome 15

A

Tay-Sachs disease

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23
Q

severe deficiency of hexoaminidase A

A

Tay-Sachs disease

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24
Q

Pt is of Jewish/Eastern European descent presents with sx at 6mo, motor/mental deterioration, cherry red spot in macula, death by age 2-3 years.

A

Tay-Sachs disease

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25
Q

Where does GM2 gangliosides accumulate?

A

heart, liver, spleen, CNS/ANS, retina

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26
Q

on histology, intracellular inclusions in lysosomes

disease and function?

A

Tay-Sachs disease

lead to progressive destruction of neurons

27
Q

inherited deficiency in sphingomyelinase (chromosome 11)

A

Niemman-Pick disease

28
Q

Pt with splenomegaly, gyri are sunken and sulci are wide, pt died at 1-2 years of age. Pt of Jewish descent. Enlarged lysosomes

A

Neimman Pick disease type A

29
Q

Adult Jewish pt with enlarged lysosomes and accumulation of sphingomyelin in the spleen.

A

Neimman Pick disease type B

30
Q

mutation in NPC1 leads to defective lipid transport

A

Neimman Pick disease type C

31
Q

Accumulation of cholesterol and gangliosides.

A

Neimman Pick disease type C

32
Q

Disease presents in childhood with ataxia, ertical supranuclear gaze palsy, dystonia, dysarthria and psychomotor regression.

A

Neimman Pick disease type C

33
Q

What is the most common lysosomal storage disorder?

A

Gaucher disease

34
Q

defective glucocerebrosidase activity

A

Gaucher disease

35
Q

where does glucocerebroside accumulate in Gaucher disease?

A

Phagocytes or CNS

36
Q

Gaucher disease type I

A

mononuclear phagocytes of the body (sk m and spleen)
in Jewish population
Does not involve brain

37
Q

Gaucher disease type II

A 
in infants
no glucocerebroside activity
not in Jewish
affects brain tissue
death at early age
38
Q

Gaucher disease type III

A

intermediate between type I and II

systemic and CNS involvement in early adolescents/adulthood

39
Q

Tissue paper cytoplasm

A

Gaucher disease

40
Q

deficiency in enzymes that metabolize GAGs

A

Mucopolysaccharidoses

41
Q

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

A

Mucopolysaccharidoses

42
Q

Cell have enlarged balloon appearance

A

Mucopolysaccharidoses

43
Q

Pt presents with hepatosplenomegaly, skeletal deformities, valvular lesions, and subendothelial artery deposits and brain lesions

A

Mucopolysaccharidoses

44
Q

deficiency of alpha1-iduronidase

Pt with HSM, coarse facial features, skeletal abnormalities, death around 6-10 yo

A

Hurler syndrome (MPS1)

45
Q

Hunter Syndrome

A

MPS II, X linked, milder clincial course, like Hurler sydnrome

46
Q

Pt with hepatomegaly and hypoglycemia

A

Hepatic glycogen storage disorder (von Gierke diseases/type I)

47
Q

Pt present with muscle cramps after exercise and lactate levels which cannot rise in the blood d/t blocked glycolysis

A

Myopathic glycogen storage disorder (McArdle disease/ type V)

48
Q 
death in early life with cardiomegally
def in alpha glucosidase or branching enzyme
A

Systemic glycogen storage disorder (Pompe disease/type II)

49
Q

flat facial profile, oblique palpebral fissures, epicanthic folds, severe mental retardation. Heart defects, atresias of esophagus and small bowel, inc risk of leukemia, neuropathic changes

A

Trisomy 21 (Down Syndrome)

50
Q

Chromosome 22q11.2 deletion

A

DiGeoge’s syndrome

51
Q

congential heart defects, abnormalities of the palate and face, developmental delay, variable degress of T cell immunodeficiency and hypocalcemia

A

Chormosome 22q11.2 deletion

52
Q

low set ears, short neck, overlapping fingers, congenital heart defects, renal malformation, limited hip abduction, rocker bottom feet, prominent occiput, mental retardation, micrognathia

A

Trisomy 18 (Edwards syndrome)

53
Q

microphthalmia, polydactyl, cardiac defects, umbilical hernia, rocker bottom feet, renal defects, cleft lip and palate, microcephaly and mental retardation

A

Trisomy 13 (Patau Syndrome)

54
Q

elongated body, small atrophic testes, small penis, lack of secondary male sex characteristics, gynecomastia, infertility

A

Klinefelter Syndrome (XXY)

55
Q

Klinefelter Syndrome is due to what

A

nondisjunction 2 more X and 1 or more Y

56
Q

lymphedema, neck webbing, cardiac abnormalities, failure to develop secondary sex characteristics, short stature, and amenorrhea. Streak ovaries.

A

Turner Syndrome (X)

57
Q

second most common cause of genetic mental retardation

A

Fragile X syndrome

58
Q

mutation in FMR1 gene causes absence o the FMRP protein in brain and testes

A

Fragile X sydnrome

59
Q

mental retardation, long face with large mandible, large everted ears, large testicles (macro-orchism), hyperextensible joints, arched plate, and mitral valve prolapse

A

Fragile X syndrome

60
Q

progressive loss of central vision and eventually complete blindness
disease/d/t what?

A

Leber Hereditary Optic neuropathy
mutation in mitochondrial genes
from mother

61
Q

deletion of paternal chromosome 15

A

Prader Willi Syndrome

62
Q

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

A

Prader Willi Syndrome

63
Q

deleton on maternal chormosome 15

A

Angelman Syndrome

64
Q

mental retardatoin, ataxic gait, seizures and inappropriate laughter (happy puppet)

A

Angelman Syndrome

Path 2 exam 2 (6 decks)

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