Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Pathology > Genetic diseases I > Flashcards

Genetic diseases I Flashcards

1
Q

What are the four categories of AD conditions?

A
  1. Quantitiy or arrangement of large sturctural proteins
  2. Regulatory proteins
  3. Deficiency in proteins that are in short supply
  4. Anti-oncogenes deleteion syndromes
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Which AD category is Marfan?

  1. Quantitiy or arrangement of large sturctural proteins
  2. Regulatory proteins
  3. Deficiency in proteins that are in short supply
  4. Anti-oncogenes deleteion syndromes
A

Quantity or arrangement of large structural proteins

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

Which AD category is Ehlers’ danlos?

  1. Quantitiy or arrangement of large sturctural proteins
  2. Regulatory proteins
  3. Deficiency in proteins that are in short supply
  4. Anti-oncogenes deleteion syndromes
A

Quantity or arrangement of large structural proteins

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

Which AD category is huntingtons?

  1. Quantitiy or arrangement of large sturctural proteins
  2. Regulatory proteins
  3. Deficiency in proteins that are in short supply
  4. Anti-oncogenes deleteion syndromes
A

Regulator proteins and receptors

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

Which AD category is neurofibromatosis?

  1. Quantitiy or arrangement of large sturctural proteins
  2. Regulatory proteins
  3. Deficiency in proteins that are in short supply
  4. Anti-oncogenes deleteion syndromes
A

Anti-oncogene deletion

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

What is reduced penetrance?

A

Not every person who has the gene gets the disease

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

What is variable expressivity?

A

How well a gene is expressed if have it

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

What is the genetic defect in Marfans?

A

Missense mutation of FBN I at 15q21.1

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

What is the protein that is affected in Marfans?

A

Fibrillin I, the glycoprotein constituent of microfibrils (i.e. a component of elastic fibers)

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

Where is fibrillin I found?

A

Elastic fibers in Aorta
Suspensory ligaments of the lens
Periosteum

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

How does Marfans cause bone abnormalities?

A

Alteration in CT in periosteum making it more elastic

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

What is the amino acid change in Marfan?

A

Cys to Gly in the fibrillin protein

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

What happens to the aorta in Marfans d/t the mutated fibrillin 1?

A

Stiffening of the aortic wall

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

What happens to the TGF-beta in marfans d/t the mutated fibrillin 1?

A

Increased activity d/t loss of fibrillin

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

What happens to the inflammation and MMP regulation in marfans d/t the mutated fibrillin 1?

A

Increased inflammation

Increased MMP

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

What happens to the cell arrangement in marfans d/t the mutated fibrillin 1?

A

Elastolysis

Cell disrray

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

Is Marfans AD or AR?

A

AD

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

What are the heart problems seen in Marfans?

A

Mitral valve prolapse

Aortic dissection

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

Is nearsightedness (myopia) or farsightedness (hyperopia) common in pts with Marfan’s? Why?

A

Nearsightedness d/t degeneration of the lens

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

What is the lens defect in Marfans?

A

Ectopia lentis– Displace lens

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

What is dolichostenomelia seen in Marfans?

A

a human condition or habitus in which the limbs are unusually long

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

What are the two types of chest wall deformities seen in Marfans?

A

Pectus carinatum

Pectus excavatum

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

What is the back problem seen in Marfans?

A

Scoliosis

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

What is arachnodactyly, and which AD disease is it characteristic of?

A

a condition in which the fingers are abnormally long and slender in comparison to the palm of the hand.

Marfans

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
What is the joint issue seen in Marfans?
Hypermobility
26
That are the heart issues seen in Marfans? (4)
1. Mitral valve prolapse (mitral regurgitation) 2. Dilation of the ascending aorta/Aortic valve incompetence 3. Cardiomyopathy 4. CHF
27
Why is cardiomyopathy seen in Marfans?
As the aorta widens, the left ventricle enlarges, and cardiomyopathy ensures
28
What are the major criteria for diagnosing Marfans? (5)
1. Pectus excavatum/carinatum 2. Thumb signs 3. Lens dislocation 4. AAA 5. Known mutation
29
Midsystolic click = ?
Mitral valve prolapse
30
What is mitral valve prolapse, and why is it seen in Marfans?
Bulging of the mitral valve back into the atrium D/t messed up elastic fibers
31
Type A aortic dissection = ? Type B = ?
``` A = ascending B = descending ```
32
What is cystic medial degeneration?
Disruption of the elastic fibers--seen in AAA found in Marfans
33
What is the stain that highlight elastic fibers?
Silver stain
34
What is the problem with the aorta in Marfans besides dissection? What else does this cause?
Aortic root dilation--aortic regurgitation
35
How many of the 11 collagen types can be affected by Ehlers-danlos syndrome?
6/11
36
Types I and II of Ehlers-danlos syndrome are characterized by mutations in what genes? What collagen does this code for?
COL5A1(2) genes that encode the alpha chain of type V collagen
37
Type IV Ehlers-danlos syndrome is a defect in which gene/collagen?
COL3A1 gene, Type III (reticulin)
38
Type V and VI Ehlers-danlos syndrome have deficiencies in what?
Lysyl hydroxylase and lysl oxidase, an important enzyme in modifing collagen
39
Type VII Ehlers-danlos syndrome is due to what gene/protein malformation?
COL1A1/COL2A1 An amino-terminal procollagen peptidase deficiency, thus cannot turn procollagen into collagen
40
Which tpye of Ehlers-danlos syndrome is the most deadly? Why?
Type IV b/c type III collagen is found in all organ systems
41
Which two types of Ehlers-danlos syndrome are AR?
IV, and VIIc
42
Which type of Ehlers-danlos syndrome causes kyphoscoliosis?
IV`
43
WHich type of Ehlers-danlos syndrome causes vascular problems?
IV
44
Type I/II Ehlers-danlos syndrome is due to what gene defect? What does this cause?
COL5A1 mRNA reduced
45
What is the problem with type IV Ehlers-danlos syndrome?
COL3A gene defect, causing collagen 3 to be unable to leave the ER
46
Type VII Ehlers-danlos syndrome is due to what gene defect? What does this cause?
COL1A1/COL1A2 gene defect, causing collagen 1 to not be cleavable
47
What are the histological characteristics of collagen in Ehlers-danlos syndrome?
Disorganized collagen
48
Bear claw collagen = ?
Type I Ehlers-danlos syndrome
49
What is the skin like in Ehlers-danlos syndrome?
Fragile (cigarette paper skin)
50
What are the complication of the skin characteristics in Ehlers-danlos syndrome?
Sutures don't hold well (dehiscence of surgical wounds) | Bleed easily
51
What is the characteristic of the joints of pts with Ehlers-danlos syndrome?
Hypermobile, with increased angle between joints
52
What is the Beighton scale for joint hypermobility?
various joint hyper mobilityfindings rated 1 if unilateral, 2 if bilateral
53
What is the mutated gene in NF1? Which chromosome is this on? What does this code for?
NF1 gene on 17q | Codes for neurofibromin
54
What is the function of neurofibromin?
Down regulates p21 ras oncoprotein by deativating ras-GTP to ras-GDP
55
What are the four classic symptoms of NF1?
1. Axillary/inguinal freckling 2. CALMs 3. Lisch nodules 4. Neurofibromas
56
What is the penetrance and expressivity of NF1?
100% penetrance, but highly variable expression
57
What is the signal that ras is involved in?
GF signalling
58
What are the less common symptoms of NF1? (3)
Neurofibromas Optic gliomas Learning disabilities
59
True or false: NF1 has been associated with Wilms tumor and rhabdomyosarcoma
True
60
What fraction of pts with NF1 have only mild cutaneous involvement?
2/3
61
What are the seven diagnotic criteria for NF1?
1. Six or more CALMs 2. Freckling of the axilla/inguinal area 3. More than one Neurofibromas 4. More than two lisch nodules 5. Optic glioma 6. Distintive bone lesions 7. Family member has it
62
What are lisch nodules seen inf NF1?
Harmartomas of the iris
63
True or false: neurofibromas can occur anywhere on the body
True
64
Where can neurofibromas grow? (2)
Skin | Nerve sheaths
65
What is the difference between a neurofibroma and a Schwannoma?
Neurofibroma is made up of many different types of, whereas schwannomas are made up solely of Schwann cells
66
Which can be shelled out during surgery: Schwannomas or neurofibromas?
Schwannomas
67
Spindle cell morphology can be seen in what AD discussed?
NF1
68
What is the tumor that NF1 pts are predisposed to?
Malignant peripheral nerve sheath tumors (MPNSTs)
69
What is the gene in NF2? Which chromosome is this on? What protein does this code for?
22q NF2 gene Merlin/schwannomin
70
What are the path/symptoms of NF2? When does these present?
``` Acoustic neuromas (hearing loss/tinnitus) 3rd decade of life ```
71
What is the function of merlin/schwannomin?
ras suppressor
72
What triggers merlin protein normally?
CD44 binding
73
What are the two major malignancies seen in NF2?
Bilateral vestibular schwannomas | Meningiomas
74
What is the diagnostic criteria for NF2?
Bilateral vestibular schwannomas OR One vestibular schwannoma with another -oma
75
What is the pathology of NF2? When does these present?
``` Acoustic neuromas (hearing loss/tinnitus) 3rd decade of life ```
76
What are the symptoms of NF2? (4)
Hearing loss Tinnitus HA Balance disturbance
77
What do the acoustic neuromas look like grossly?
Bunches of grapes (just like staph aureus!!)
78
What are the two histological patterns of vestibular schwannomas?
Antoni A and B
79
Bunches of collagen (antoni A or B)?
Antoni A
80
Mixed CT (antoni A or B)?
B
81
What are verocay bodies? What are these found in?
Palisading tumor cells with CT between them Found in NF2 vestibular schwannomas

Pathology (32 decks)

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