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Kaplan: Pathology > Genetic Disorders and Disorders of Sexual Development (continued) > Flashcards

Genetic Disorders and Disorders of Sexual Development (continued) Flashcards

1
Q

Name some of the lysosomal storage diseases.

A

Tay-Sachs disease
Niemann-Pick disease types A and B
Gaucher disease
Fabry disease
Metachromatic leukodystrophy
Hurler Syndrome
Hunter syndrome

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2
Q

Tay Sachs is commonly found in what groups?

A

Ashkenazi Jews

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3
Q

Tay Sachs disease enzyme deficiency?

A

hexosaminidase A

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4
Q

What is the substance that accumulates in those with Tay Sachs?

A

GM2 ganglioside

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5
Q

What is the enzyme defiency in Niemann-Pick disease types A and B?

A

sphingomyelinase

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6
Q

What is the accumulating substance is Niemann-Pick disease?

A

sphingomyelin

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7
Q

What is the enzyme deficiency in Gaucher disease?

A

glucocerebrosidase

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8
Q

What is the accumulating substance in Gaucher disease?

A

glucocerebroside

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9
Q

What is the enzyme deficiency in fabry disease?

A

a-galactosidase A

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10
Q

What is the accumulating substance in Fabry disease?

A

ceramide trihexoside

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11
Q

What is the enyzyme defiency in metachromatic leukodystrophy?

A

arylsulfatase A

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12
Q

What is the accumulating substance in metachromatic leukodystrophy?

A

sulftatide A

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13
Q

What is the enzyme deficiency in Hurler Syndrome?

A

alpha-L-iduronidase

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14
Q

What is the accumulating substance ins Hurler Syndrome?

A

dermatan sulfate heparan sulfate

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15
Q

What is the enzyme deficiency in Hunter Syndrome?

A

iduronate-2-sulfatase (IDS)

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16
Q

What is the accumulating substance in Hunter Syndrome?

A

dermatan sulfate heparan sulfate

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17
Q

What is the reticuloendothelial system?

A

monocytes and macrophages located in reticular connective tissue

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18
Q

What are “Zebra bodies”

A

concentric lamellated inclusions seen in the cytoplasm on EM

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19
Q

How is type C Niemann Pick disease, which is the most common form, differ from types A and B?

A

a defect in cholesterol transport causes ataxia, dysarthria, and learning difficulties

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20
Q

What is mucopolysaccharidosis?

A

group of lysosomal storage disorders characterized by deficiencies in the lysosomal enzymes required for degradation of mucopolysacccharides

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21
Q

What is the rate limiting enzyme in the synthesis of cholesterol?

A

HMG-CoA reductase

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22
Q

What is familial hypercholesterolemia? What chromosome is affected?

A

most common inherited disorder and is due to a mutation in the low density lipoprotein LDL receptor gene on chromosome 19.

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23
Q

Class I familial hypercholesterolemia?

A

Class I: no LDL receptor synthesis

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24
Q

Class II familial hypercholesterolemia?

A

defect in transport out of the ER

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25
Q

Class III familial hypercholesterolemia?

A

defect in LDL receptor binding

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26
Q

Class IV familial hypercholesterolemia?

A

defect in ability to internalize bound LDL

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27
Q

Class V familial hypercholesterolemia?

A

defect in the recycling of the LDL receptor

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28
Q

What is Marfann syndrome caused by?

A

due to a mutation of the fibrillin gene (FBN1) on chromosome 15q21

29
Q

What is the importance of fibrillin?

A

is a glycoprotein that functions as a scaffold for the alignment of elastic fibers

30
Q

Clinical features of Marfans?

A
  • skeletal changes (tall, thin build with long extremities)
  • hyperextensible joints
  • pecuts excavatum (inwardly depressed sternum)
  • pectus carinatum (pigeaon breast)
  • abnormal eyes (ecopia lentis
  • cystic medial degeneration of medial elastic arteries with loss of elastic fibers and smooth muscle > inc. incidence dissecting aortic aneurysm (a major cause of death)
31
Q

What is Ehlers-Danlos syndrome?

A

a group of inherited connective tissue disease that have in common a defect in collagen structure of synthesis

32
Q

Name some disorders of collagen biosynthesis?

A

scurvy,

osteogenesis imperfecta

Ehlers Danlos syndrome

Alport Syndrome,

Menke’s disease

33
Q

What is kyphoscoliotic EDS?

A

autosomal recessive form of EDS

34
Q

What is vascular variant EDS?

A

AD form of EDS that causes rupture of vessels and bowel wall

35
Q

What is classical EDS characterized by and what is the inheritance pattern?

A

AD form that causes a type V collagen defect; patients have a normal lifespan

36
Q

What is neurofibromatosis caused by?

A

defects in tumor suppressor genes

37
Q

What is type 1 neurofibromatosis?

Also another name for it?

A

Aka von recklinghausen disease due to mutation of tumor supressor gene NF1 located on chromosome 17 (17q11.2)

the normal gene produced inhibits p21 ras oncoprotein

38
Q

Clinical features von Recklinghausen disease?

A

affected individuals have multiple neurofibromas ( benign tumors of peripheral nerves that are often numerous and may be disfiguring.)

pigmented lesions

cafe au lait spots
lisch nodules (pigmented iris hamartomas
inc. risk:
meningiomas and pheochromocytoma

39
Q

Another name for type 2 neurofibromatosis?

A

bilateral acoustic neuromas

schwannomatosis

40
Q

What causes type 2 neurofibromatosis?

A

mutated tumor suppressor gene NF-2 (22q 12.2) on chromosome 22)

41
Q

Clinical features of Neurofibromatosis Type 2?

A

vestibular schwannomas (acoustic neuromas) and increased risk of meningioma and ependymomas

42
Q

What is von Hippel-Lindau disease caused by?

A

due to a mutation of the tumor suppressor VHL on chromosome 3p

the normal gene products main action is to tag proteins with ubiquitin for degradation

43
Q

What are the clinical features of von Hippel Lindau disease?

A

retinal hemangioblastoma (von Hippel tumor)
hemangioblastomas of the cerebellum,
brain stem,
spinal cord
cysts of the liver,
pancreas,
kidneys
and multiple bilateral renal cell carcinomas

44
Q

What are some X linked recessive conditions?

A

Lesch Nyhan
testicular feminization syndrome
Bruton agammaglobulinemia
Menkes disease
Hemophilia A

45
Q

What is Lesch Nyhan syndrome caused by?

A

deficiency of hypoanthine-guanine phophoribosyltransferase (HGPRT) which impairs salvaging of the purines hypoxanthine and guanine

46
Q

What are the clinical features of Lesch-Nyhan syndrome?

A

intellectual disability, hyperuricemia, and self-mutilation

47
Q

What is testicular feminization?

A

androgen insensitivity that causes failure of normal masculinization of external genitalia of XY males

48
Q

What is Bruton agammaglobulinemia?

A

defective Btk at band Xq22 causes complete failure of immunoglobulin production

49
Q

Features of Bruton agammaglobulinemia?

A

complete absence of ab in serum and recurrent bacterial infections

50
Q

What is Menkes disease caused by? Symptoms?

A

mutation of the ATP7A gene impairs copper distribution infants show failure to thrive, and death occurs in first decade

51
Q

Name some X linked dominant conditions?

A

Alport syndrome

52
Q

How are X linked recessive and dominant conditions different?

A

in X linked dominant both males and females can show the disease

53
Q

What are some triple repeat mutation disorders?

A

Fragile X
Huntingtons

54
Q

Cause of fragile X syndrome? Autosomal inheritance pattern?

A

due to triplet nucleotide repeat mutations so that nucleotide sequence CGG repeats hundreds to thousands of times

mutation occurs in the FMR-1 gene (fragile X mental retardation -1) on the X chromosome and behaves as an X-linked dominant disease

55
Q

What is the cause of Huntington disease?

A

due to triplet repeat mutation (CAG) of the HTT gene that produces an abnormal protein (huntingtin) which is neurotoxic and causes atrophy of the caudate nucleus

56
Q

C/F of Huntington disease?

A

progressive dementia and choreiform movements

57
Q

What is genomic imprinting?

A

differential expression of genes based on chromosomal inheritance from maternal vs paternal origin

58
Q

Prader Willi cause?

A

microdeletion on paternal chromosome 15

59
Q

What are the clinical features of Prader-Willi syndrome?

A

intellectual disability, obesity, hypogonadism, and hypotonia

60
Q

Angelman syndrome cause?

A

microdeletion on maternal chromosome 15

61
Q

Angelman syndrome clinical features?

A

intellectual disability, seizures, ataxia, and inappropriate laughter

62
Q

What does mitochondrial DNA code for?

A

mitochondrial oxidative phosphorylation enzymes; inheritance is only from mother to child because only ovum contributes mitochondria to zygote

63
Q

Name the mitochondrial DNA disorders?

A
  • Leber hereditary optic neuropathy
  • Myoclonic Epilepsy with Ragged Red Fibers (MERRF)
64
Q

What are the symptoms of Leber hereditary optic neuropathy?

A

causes loss of retinal cells, which leads to central vision loss

65
Q

MERRF clinical features?

A

mitochondrial disorder characterized by epilepsy, ataxia, peripheral neuropathy, and deterioration in cognitive ability

sensorineural hearing loss and ocular dysfunction

short stature and cardiomyopathy

66
Q

What is multifactorial inheritance?

A

disease caused by a combination of multiple minor gene mutation and environmental factors

67
Q

What are polymorphisms?

A

are variants of genes

68
Q

What are features determining ductal sex?

A

refers to the presence of Mullerian (female: fallopian tube, uterus, cervix, and upper portion of vagina) or Wolffian (male: epididymis, vas deferens, seminal vesicles, and ejaculatory ducts

Kaplan: Pathology (10 decks)

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