Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Cytogenetics > GENETIC DISORDERS 2.0 > Flashcards

GENETIC DISORDERS 2.0 Flashcards

Genetic Disorders: II. Associated with defects in receptor proteins III. Associated with defects in Enzymes (68 cards)

Start Studying
1
Q

Disorder associated with defects in receptor proteins

A

Familial Hypercholesterolemia

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

Other name for Familial Hypercholesterolemia (FH)

A

a. Type II Hyperlipoproteinemia
b. Hypercholesterolemic xanthomatosis
c. Low density lipoprotein receptor mutation

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

Disorder associated with defects in enzymes

A

Lysosomal Storage Diseases:

  1. Tay-Sachs Disease
  2. Niemann-Pick Disease
  3. Gaucher’s Disease
  4. Mucopolysaccharidoses
  5. Glycogen Storage Disease
  6. Alkaptonuria
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Other name for Tay-Sachs Disease

A

a. GM2 Gangliosidosis

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

Tay-Sachs Disease is most common in what population?

A

Ashkenazi ; Jewish Population

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

What gene is defective in Tay-Sachs Disease?

A

Chromosome 15

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

An inherited condition that causes high levels of LDL cholesterol levels beginning at birth, and heart attacks at an early age

A

Familial Hypercholesterolemia

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

What gene is defective in FH (Familial Hypercholesterolemia)?

A

Chromosome 19

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

The defect, Familial Hypercholesterolemia, is unable to remove ____ from the blood

A

low density lipoprotein

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

True or False

Tay-Sachs Disease results in a high level of LDL in the blood

A

False

  • Familial Hypercholesterolemia results in high levels of LDL in blood
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What does a physical exam show for Familial Hypercholesterolemia?

A
  • Xanthomas (Fatty skin Growths)
  • Corneal Arcus (Cholesterol deposits in the eye - Corneal rim)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Symptoms of FH :

A
  • Xanthomas (Hands, Elbows, Knees, Ankles, Around Cornea of the Eye)

-Xanthelasmas (Cholesterol deposits in the eyelids)

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

True or False

When both parents carry the defective gene, Tay-Sachs gene, a child has 50% chance of developing the disease

A

FALSE

  • A child has 25% chance of developing the disease if both parents carry the defect gene
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Tay-Sachs disease occurs when the body lacks ___

A

Hexosaminidase A

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

TRUE OR FALSE

The child must receive two copies of the defective gene, one from each parent, to become sick

A

TRUE

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

Tay-Sachs Disease is named after who?

A

Warren Tay, 1881

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

Warren Tay’s contribution to the discovery of Tay-Sachs Disease

A

British ophthalmologists who in 1881 described a Patient with a cherry-red spot on the retina of the eye

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

Symptoms of Tay-Sachs Disease

A
  • Blindness
  • Deafness
  • Dementia (Loss of brain function)
  • Delayed Mental and Social Skills
  • Loss of Motor skills
  • Paralysis
  • Slow Growth
  • Decreased:
    a. eye contact
    b. muscle tone (loss of muscle strength)
  • Increased:
    a. Startle reaction
    b. Irritability
    c. Seizures
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

TRUE OR FALSE

Tay-Sachs is an Autosomal Recessive genetic disorder

A

TRUE

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

Other names for Niemann-Pick disease

A
  1. Lipid histiocytosis
  2. Neuronal cholesterol lipidosis
  3. NPD
  4. Sphingomyelin lipidosis
  5. Cholesterol lipidosis
  6. Sphingomyelinase deficiency
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Type D Niemann-Pick disease is also known as

A

Nova Scoatian Type

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

A primary deficiency of acid sphingomyelinase and the resultant accumulation of sphingomyelin

A

Niemann-Pick disease

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

Most common form of the Niemann-Pick disease

A

Type C

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

Type C Niemann-Pick disease is also known as what form?

A

Subacute Juvenile Form

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Type A Niemann-Pick disease is also known as what form?
Classic infantile form
24
Type B Niemann-Pick disease is also known as what form?
Visceral Juvenile Form
25
This type of Niemann-Pick disease manifests itself in infancy with massive visceromegaly and severe neurologic determination
Type A
26
This type of Niemann-Pick disease that is caused by a mutation in the same gene as type C1, was originally separated from Type C to delineate a group of patients sharing a common ancestry with otherwise identical disorder no longer used.
Type D
26
The type of Niemann-Pick disease with no neurologic disorder
Type B
26
The type of Niemann-Pick disease with brain complications into C1 and C2
Type C
27
What are the affected cells and organs in Niemann-Pick disease?
- Phagocytic Cells: Spleen, Liver, Bone, Marrow, Lymph Nodes, Lungs (Stuffed with droplets or particles of the complex lipid, imparting a fine vacuolation of foaminess to the cytoplasm)
28
TRUE OR FALSE Cells and Organs in Niemann-Pick disease are enlarged and vacuolated as a result of the storage of lipids
TRUE
29
Rare genetic disorder that is one of the group called Lysosomal storage disease
Gaucher's Disease
30
What enzyme is missing/deficient in Gaucher's disease?
Glucocerebrosidase
31
Signs and symptoms of Gaucher's disease
- Enlarged: Liver, Spleen - Low: Platelet, Hemoglobin count - Problems with Bones and Joints
32
It is an inherited disorder that results in the accumulation of fatty molecules called cerebrosides in the body's organ and tissue
Gaucher's Disease
33
What is the fatty molecule that is accumulated in the body's organ and tissues in Gaucher's disease?
Cerebrosides
34
TRUE OR FALSE In Gaucher's disease, the gene that would normally tell the body to produce this enzyme is altered
TRUE
35
Group of inherited lysosomal storage disease
Mucopolysaccharidoses
36
Signs and Symptoms of Mucopolysaccharidoses
- "coarse" facial features - Short stature - heart abnormalities - breathing irregularities - Neurological abnormalities - Enlargement: Liver, Spleen
37
The accumulation these certain complex carbohydrates eventually causes progressive damage to cells, tissues, and various organ systems in the body
Mucopolysaccharides or Glycosaminoglycans
38
In MPS disorder, the deficiency or malfunction of specific lysosomal enzymes leads to the accumulation of certain complex carbohydrates in the ____
- Arteries - Ears - Eyes - Joints - Teeth - Skeleton - Skin May also be found in the: - Respiratory system - Liver - Spleen - Central Nervous System - Blood - Bone Marrow
39
rare condition that changes the way the body uses and stores glycogen, a form of sugar or glucose
Glycogen Storage disease
40
rare genetic metabolic disorder characterized by the accumulation of homogentisic acid
Alkaptonuria
41
Alkaptonuria is caused by the mutation of this gene
Homogentisate 1,2-dioxygenase gene
42
Most common form of GSD
Type I , Von Gierke Disease
42
Deficient enzyme for Type V GSD
Glycogen phosphorylase / Muscle phosphorylase
42
what is the deficient enzyme for Type Ia GSD
Glucose-6-phosphatase
42
Deficient enzyme for Type IV GSD
Glycogen branching enzyme
42
Deficient enzyme for Type II GSD
Lysosomal a 1,4-glycosidase
43
Deficient enzyme for Type III GSD
Glycogen debranching enzyme
43
Deficient enzyme for Type Ib GSD
Glucose-6-phosphatase translocase
44
Deficient enzyme for Type VI GSD
Liver Phosphorylase
45
Deficient enzyme for Type VII GSD
Phosphofructokinase
46
Deficient enzyme for Type VIII GSD
Liver glycogen phosphorylase-b-kinase
47
Deficient enzyme for Type IX GSD
Phosphorylase kinase
48
Deficient enzyme for Type X GSD
Phosphoglycerate mutase
49
Deficient enzyme for Type XI
GLUT2
50
Deficient enzyme for Type XII
Aldolase A
51
Deficient enzyme for Type XIII
Beta-enolase
52
Deficient enzyme for Type XIV
Phosphoglucomutase-1
53
People with this Genetic Storage Disease don't have enough debranching enzyme that helps break down glucose
Type III (Cori's or Forbes Disease)
54
Symptoms of Type III GSD
Swollen Belly Delayed growth Weak Muscles
54
Symptoms of Alkaptonuria
- Dark/ Black urine upon long-standing exposure to air - Ochronosis - Sclera - Tendonitis Arthritis and Ochronotic arthropathy
54
In this GSD, glycogen cannot fully break down and collects in the liver and in muscle tissues
Type III (Cori's / Forbes Disease)
55
Symptoms of Type I GSD
- Hypoglycemia - swollen belly - enlarged liver
56
The GSD that creates scarring (Cirrhosis) of the liver and other organs such as muscle and heart
Type IV (Andersen Disease)
57
TRUE OR FALSE Type I GSD often appears in babies around 3 to 4 months old
TRUE

Cytogenetics (7 decks)

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