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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
Class III familial hypercholesterolemia?
defect in LDL receptor binding
26
Class IV familial hypercholesterolemia?
defect in ability to internalize bound LDL
27
Class V familial hypercholesterolemia?
defect in the recycling of the LDL receptor
28
What is Marfann syndrome caused by?
due to a mutation of the fibrillin gene (FBN1) on chromosome 15q21
29
What is the importance of fibrillin?
is a glycoprotein that functions as a scaffold for the alignment of elastic fibers
30
Clinical features of Marfans?
* 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
What is Ehlers-Danlos syndrome?
a group of inherited connective tissue disease that have in common a defect in collagen structure of synthesis
32
Name some disorders of collagen biosynthesis?
scurvy, osteogenesis imperfecta Ehlers Danlos syndrome Alport Syndrome, Menke's disease
33
What is kyphoscoliotic EDS?
autosomal recessive form of EDS
34
What is vascular variant EDS?
AD form of EDS that causes rupture of vessels and bowel wall
35
What is classical EDS characterized by and what is the inheritance pattern?
AD form that causes a type V collagen defect; patients have a normal lifespan
36
What is neurofibromatosis caused by?
defects in tumor suppressor genes
37
What is type 1 neurofibromatosis? | Also another name for it?
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
Clinical features von Recklinghausen disease?
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
Another name for type 2 neurofibromatosis?
bilateral acoustic neuromas schwannomatosis
40
What causes type 2 neurofibromatosis?
mutated tumor suppressor gene NF-2 (22q 12.2) on chromosome 22)
41
Clinical features of Neurofibromatosis Type 2?
vestibular schwannomas (acoustic neuromas) and increased risk of meningioma and ependymomas
42
What is von Hippel-Lindau disease caused by?
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
What are the clinical features of von Hippel Lindau disease?
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
What are some X linked recessive conditions?
Lesch Nyhan testicular feminization syndrome Bruton agammaglobulinemia Menkes disease Hemophilia A
45
What is Lesch Nyhan syndrome caused by?
deficiency of hypoanthine-guanine phophoribosyltransferase (HGPRT) which impairs salvaging of the purines hypoxanthine and guanine
46
What are the clinical features of Lesch-Nyhan syndrome?
intellectual disability, hyperuricemia, and self-mutilation
47
What is testicular feminization?
androgen insensitivity that causes failure of normal masculinization of external genitalia of XY males
48
What is Bruton agammaglobulinemia?
defective Btk at band Xq22 causes complete failure of immunoglobulin production
49
Features of Bruton agammaglobulinemia?
complete absence of ab in serum and recurrent bacterial infections
50
What is Menkes disease caused by? Symptoms?
mutation of the ATP7A gene impairs copper distribution infants show failure to thrive, and death occurs in first decade
51
Name some X linked dominant conditions?
Alport syndrome
52
How are X linked recessive and dominant conditions different?
in X linked dominant both males and females can show the disease
53
What are some triple repeat mutation disorders?
Fragile X Huntingtons
54
Cause of fragile X syndrome? Autosomal inheritance pattern?
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
What is the cause of Huntington disease?
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
C/F of Huntington disease?
progressive dementia and choreiform movements
57
What is genomic imprinting?
differential expression of genes based on chromosomal inheritance from maternal vs paternal origin
58
Prader Willi cause?
microdeletion on paternal chromosome 15
59
What are the clinical features of Prader-Willi syndrome?
intellectual disability, obesity, hypogonadism, and hypotonia
60
Angelman syndrome cause?
microdeletion on maternal chromosome 15
61
Angelman syndrome clinical features?
intellectual disability, seizures, ataxia, and inappropriate laughter
62
What does mitochondrial DNA code for?
mitochondrial oxidative phosphorylation enzymes; inheritance is only from mother to child because only ovum contributes mitochondria to zygote
63
Name the mitochondrial DNA disorders?
* Leber hereditary optic neuropathy * Myoclonic Epilepsy with Ragged Red Fibers (MERRF)
64
What are the symptoms of Leber hereditary optic neuropathy?
causes loss of retinal cells, which leads to central vision loss
65
MERRF clinical features?
mitochondrial disorder characterized by epilepsy, ataxia, peripheral neuropathy, and deterioration in cognitive ability sensorineural hearing loss and ocular dysfunction short stature and cardiomyopathy
66
What is multifactorial inheritance?
disease caused by a combination of multiple minor gene mutation and environmental factors
67
What are polymorphisms?
are variants of genes
68
What are features determining ductal sex?
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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