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Flashcards in Genetic Disorders Deck (23)
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1

3 autosomal dominant disorders and associated defects

Marfan syndrome

Ehler danlos syndrome

Familial hypercholesterolemia type III

2

Autosomal recessive disorders

Example of most common

1. Spingolipidoses
2. Spingomyelinoses
3. Sulfatidoses
4.Mucopolysaccharidoses
5. Glycogenoses

1. Sphingolipidoses : Tay Sachs
2. Sphingomyelinoses : Niemann Pick
3. Sulfatidoses : Gaucher
4. MPS : Hurler + Hunter
5. Glycogenoses: Von Gierke, McArdle)

3

Tay Sachs disease

1.Genetic defect type
2. Defect
3. Accumulation
4. Morphology Neuron and Retina

1.AR
2.Alpha subunit of hexoaminidase A
3. Accumulation of gm2 ganglioside
4. Neurons Whorled onion skin on EM ;Retina cherry red spot

4

Niemann pick disease

1. genetic
2. Defect
3. Accumulation
4. EM
5. More severe type

1. AR
2. Spinhgomyelinase
3. Sphingomyelin
4. Lamellated myelin figures Zebra bodies
5. Type b

Clinical: also has cherry red spot (although less than tay sach), hepatosplenomegally

5

Gaucher disease

1. Genetic
2. Most common what?
3. Defect
4. Accumulation
5. Morphology
6. Type Severe vs common

1. AR
2.Lysosomal storage disorder
3. Glucocerebrosidase (or beta glucosidase)
4. Glucocerebrosides
5.Crumpled tissue paper of cytoplasm

Type I common
Type II severe (aka infantile)

6

Mucopolysaccharidoses


1. Defect
2. Accumulation
3. MPS I vs MPS II

1. Enzymes to degrade GAGs
2. GAGs
3. MPSI : hurler | MPS II Hunter

7

Hurler syndrome

1. MPS ___
2. Enzyme defect
3. Genetics
4. Clinical morph vs Hunter
5: clinical course


1.MPS I
2.alpha L iduronase
3. AR
4. Present corneal clouding
5. Severe

8

Hunter syndrome

1. MPS ___
2. Enzyme defect
3. Genetics
4. Clinical morph vs Hunter
5: clinical course

1. MPS II
2. L iduronosulfate sulfatase
3. X linked
4. No corneal clouding
5. Milder

9

Glycogenoses

Hepatic

Myopathic

Lysosomes

Type I von gierke

Type V mcardle

Type II pompe

10

Von gierke disease

Enzyme

Type

With ____ no _____

Glucose 6 phosphatase

Type 1a

Hypoglycemia lactic acidosis NO CAD

11

Macardle syndrome

Enzyme

Type

Clinical

Muscle phosphorylase

Type 5

Lactic acidosis cramps high muscle glycogen

12

Pompe disease

Enzyme

Type

Clinical

Lysosomal acid maltase

Type II

INCREASE glycogen, heart failure in kids, muscle dystrophy in adults

13

Down

Edwards

Patau

Pathology:

21

18

13

Nondisjunction of ___ chromosome

14

Di George

Cardiac anomalies
Abnormal fascies
Thymic hypoplasia
Cleft palate
Hypocalcemia (secondary to parathyroid hypoplasia)
22

15

Klinefelter syndrome

Chromosome defect

Gender

Clinical

47 XXY

MALE hypogonadism

Micro penis, testicular atrophy
Metabolic syndrome
Gynecomastia
MVP

16

Turner syndrome

Gender

Chromosome

Clinical

Cause of mortality

Female

45X 0

infertility Ovarian streak short shoebox cystic hygromas preductal CoA
Amenorrhea
Short HOmeobox
Cystic hygroma webneck

Preductal Coarctation

17

Trinicleotide repeats

Anticipation means

Disease worsens with successive generation

18

Fragile x

Second most most common cause of _______ after _______

expansion
Gene

Clinical feature

MR downs

CGG FMR1 Gene on x chromosome

Macroorchidism
IQ 20-60 (Mental retardation)

19

Huntington

Autosomal ______

Expansion gene

Clinical

Dominant

CAG expansion HTT gene

Movement dysorders dementia progressive FATAL

20

In X linked disorder...

1. All sons...
2. All daughters are?

1. All sons do not transmit to sons
2. All daughters are carriers

21

Mitcochondrial dystorder

1. MELAS
2. Bilaterial central vision blindnes

1. Mitochondrial myopathy, enchephalopathy, lactic acidosis, stroke
2. Leber hereditary optic neuropahty

22

In Angelman syndrome

1. Deletion in _____ chromosome site
2. Leads to activation of the imprinted _____ gene on the ____ chromosome

1. Maternal chromosome site
2. Prader willi gene on the paternal is active; and UBE3A is silenced on the paternal chromosome

LOSS OF FUNCTION

23

In prader willi syndrome;

1. There is deletion of site in ___________
2. On the ___________ chromosome, ___________ is imprinted, ________ is active?

1. Paternal chromosome
2. Maternal chromosome; prader willi is imprinted, UBE3a gene is active

Loss of function in prader willi gene