Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

COM - MOD 1 > Ch 5 Slides - Dobson > Flashcards

Ch 5 Slides - Dobson Flashcards

1
Q

How is red-green color vision inherited?

What genes?

A

X-linked

OPN1LW

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Marfan is a disorder of CTs manifested in changes where?

What kind of inheritance?

A

Skeleton, eyes, cardiovascular system

Autosomal dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is the most common manifestation of dyslipidemia?

Most commonly associated with what?

A

Xanthomas

High levels of LDL

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Xanthomas deposit where?

A

Ligaments and tendons, less commonly in the periosteum and fascia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Metabolic block and decreased amount of end product is associated with what?

A

Lesch-Nyhan

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Failure to inactivate a tissue damaging substrate results in what?

A

Alpha1-antitrypsin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Tay-Sachs is associated with what enzyme deficiency?

A

Hexosaminidase a-subunit

Most common of all GM2 gangliosides

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What dominates the clinical picture in Tay-Sachs disease?

A

Involvement of neurons in the central and ANS and retina

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Nieman-Pick Disease Type A is characterized by what?

A

Accumulations of sphingomyelin (Hepatosplenomegaly) and progressive wasting and early death by age 3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Neiman-Pick Disease Type B is characterized by what?

A

NO CNS involvement

Survive into adulthood

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Neiman-Pick Disease Type C is due to what?

A

Due to a primary defect in nonenzymatic lipid transport and is more common that types A and B combined

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Neiman-Pick disease is due to accumulation of what?

Deficiency of what enzyme?

A

Lysosomal accumulations of sphingomyelin

Sphingomyelinase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Gaucher disease results from mutations in what gene?

A

Glucocerbrosidase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Gaucher Type I is described as what?

A

Chronic, non-neuronopathic type, most common

Mononuclear phagocytes throughout the body (spleen and skeleton) but NOT the BRAIN

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Type II Gaucher disease characterized how?

A

Acute neuronopathic, infantile acute cerebral pattern

No Jews involved

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What are the symptoms of Type I Gaucher?

A

Splenomegaly, bone fractures, cytopenias

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

MPSs results from deficiency in what?

A

Enzymes involved in degradation of mucopolysaccharides (GAGs)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What types of substances involved in MPS?

A

Dermatan sulfate
Heparan sulfate
Keratin sulfate
Chondroitin sulfate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

which MPS syndrome is inherited via X-linked recessive method?

A

Hunter syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What clinical features characterize MPS?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Where is MPS generally found?

A

Mononuclear phagocytic cells, endothelial cells, intimal smooth muscle cells, fibroblasts

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What are common features of all the MPSs?

A

Hepatosplenomegaly, skeletal deformities, valvular lesions, subendothelial arterial deposits, particularly in the coronary arteries and lesions in the brain

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What are the clinical features of Von Gierke disease?

What type of disease is it?

A

Hepatic enlargement and hypoglycemia

type I glycogenoses

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

McArdle disease is characterized by what?

What type is it?

A

Present with muscle cramps after exercise and lactate levels in the blood fail to rise after exercise due to a block in glycolysis

type V glycogenoses

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
What is the most prominent feature of Pompe disease? Associated with what else?
Cardiomegaly Lysosomal storage of glycogen in all organs
26
What is the a common clinical feature between Patau and Edwards syndrome?
Renal disease
27
What is responsible for Down syndrome?
95% extra chromosome 4% Robertsonian translocation 1% mosaic
28
Patients with Down syndrome are at risk for what?
Congenital heart disease Acute leukemia Alzheimer disease serious infections especially of the lungs
29
What are the clinical features of DiGeorge's syndrome?
Absence of thymus and parathyroid glands Hypocalcemia Low-set ears, wide-set eyes, small jaw
30
What 2 genes are affected in DiGeorge's syndrome?
TBX1 which targets PAX9
31
What is the most common cause of hypogonadism in men?
Klinefelter syndrome, 47 XXY
32
Patients with Klinefelter syndrome are at higher risk for what?
breast cancer type 2 diabetes Mitral valve prolapse
33
what are the clinical features of Turner syndrome?
``` Webbed neck Coarctation of aorta Short stature Cubitus valgus Streak ovaries ```
34
Fragile-X syndrome is a result of what? | What type of mutation?
CGG trinucleotide repeat | loss of function
35
Fragile X syndrome often causes what? What gene?
2nd most common cause of mental retardation after Down FMR1 gene
36
Clinical features of fragile X syndrome?
``` Behavioral aspects Large, protruding ears Long face Flat fee High-arched palate ```
37
What is the most distinctive feature in Fragile X syndrome?
Macro-orchidism
38
What syndrome is characterized by mental retardation, short stature, hypotonia, profound, hyperphagia, obesity, small hands and feet, hypogonadism? What genetics?
Prader-Willi Father genomic imprinting
39
Patients with Angelman syndrome characterized by what?
Mentally retarded, ataxic gait, seizures, inappropriate laughter (happy puppet)
40
cystic fibrosis is due to what genetic mutation?
3 base deletion in F508 on chromosome 7
41
What enzyme is deficient in von Gierke disease?
G6P
42
What enzyme is deficient in McArdle disease?
Muscle phosphorylase
43
What enzyme is deficient in Pompe disease?
Acid maltase aka lysosomal glucosidase
44
What are important Autosomal dominant disorders to know?
HOME FV Huntington Osteogenesis imperfecta Marfan EDS (some variants) Familial hypercholesterolemia vWF
45
Autosomal dominant diseases have mutations in what?
Structural protein or receptor
46
Autosomal recessive disorders have what type of mutation?
In enzymes
47
What are some X-linked recessive disorders?
``` DMD Agammaglobulinemia Wiskott-Aldrich DI Leach-Nyhan Fragile X ```
48
What are the 5 mutation classes for familial hypercholesterolemia?
Some Times Bitches Come Real ``` 1 - Synthesis 2 - Transport 3 - Binding 4 - Clustering 5 - Recycling ```
49
Presence of a xanthomas indicates what?
Familial hypercholesterolemia
50
What disease is characterized by a metabolic block and decreased amount of end product?
Lesch-Nyhan
51
The involvement of neurons in the CNS and ANS and retina dominating the clinical picture indicates what?
Tay Sachs
52
What disease is associated with fibrillary cytoplasm that can be resolved as elongated, distended lysosomes, containing stored lipid in stacks of bilayers on electron microscope?
Gaucher disease
54
What disease microscopically has the appearance of balloon cells in the cytoplasm?
MPS
55
Where are MPS generally found?
Mononuclear phagocytic cell Endothelial cells Intimal smooth muscle cells Fibroblasts
56
Upon electron microscopy there is presence of vacuoles engorged secondary lysosomes containing membranous cytoplasmic bodies, resembling concentric lamellated myelin figures, called zebra bodies, what does this indicate?
Niemann-Pick Type A
57
What is the trinucleotide repeat for Huntington disease?
CAG
59
What disease is charcterized by a fibrillary type of cytoplasm likened to crumpled tissue paper?
Gaucher
62
Upon exam with electron microscope, the presence of whorled configurations within lysosomes composed of onion-skin layers of membranes indicates what?
Tay Sachs
63
Vacuolar ion and ballooning of neurons constitute the dominant histological change in the nervous system of what disease?
Niemann-Pick A
66
What is the trinucleotide repeat for Friedreich ataxia?
GAA

COM - MOD 1 (7 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions