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Pathology Review > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

1
Q

3 autosomal dominant disorders and associated defects

A

Marfan syndrome

Ehler danlos syndrome

Familial hypercholesterolemia type III

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2
Q

Autosomal recessive disorders

Example of most common

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

Tay Sachs disease

  1. Genetic defect type
  2. Defect
  3. Accumulation
  4. Morphology Neuron and Retina
A
  1. AR
  2. Alpha subunit of hexoaminidase A
  3. Accumulation of gm2 ganglioside
  4. Neurons Whorled onion skin on EM ;Retina cherry red spot
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4
Q

Niemann pick disease

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

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5
Q

Gaucher disease

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

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6
Q

Mucopolysaccharidoses

  1. Defect
  2. Accumulation
  3. MPS I vs MPS II
A
  1. Enzymes to degrade GAGs
  2. GAGs
  3. MPSI : hurler | MPS II Hunter
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7
Q

Hurler syndrome

  1. MPS ___
  2. Enzyme defect
  3. Genetics
  4. Clinical morph vs Hunter
    5: clinical course
A
  1. MPS I
  2. alpha L iduronase
  3. AR
  4. Present corneal clouding
  5. Severe
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8
Q

Hunter syndrome

  1. MPS ___
  2. Enzyme defect
  3. Genetics
  4. Clinical morph vs Hunter
    5: clinical course
A
  1. MPS II
  2. L iduronosulfate sulfatase
  3. X linked
  4. No corneal clouding
  5. Milder
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9
Q

Glycogenoses

Hepatic

Myopathic

Lysosomes

A

Type I von gierke

Type V mcardle

Type II pompe

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10
Q

Von gierke disease

Enzyme

Type

With ____ no _____

A

Glucose 6 phosphatase

Type 1a

Hypoglycemia lactic acidosis NO CAD

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11
Q

Macardle syndrome

Enzyme

Type

Clinical

A

Muscle phosphorylase

Type 5

Lactic acidosis cramps high muscle glycogen

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12
Q

Pompe disease

Enzyme

Type

Clinical

A

Lysosomal acid maltase

Type II

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

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13
Q

Down

Edwards

Patau

Pathology:

A

21

18

13

Nondisjunction of ___ chromosome

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14
Q

Di George

A 
Cardiac anomalies
Abnormal fascies 
Thymic hypoplasia
Cleft palate 
Hypocalcemia (secondary to parathyroid hypoplasia) 
22
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15
Q

Klinefelter syndrome

Chromosome defect

Gender

Clinical

A

47 XXY

MALE hypogonadism

Micro penis, testicular atrophy
Metabolic syndrome
Gynecomastia
MVP

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16
Q

Turner syndrome

Gender

Chromosome

Clinical

Cause of mortality

A

Female

45X 0

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

Preductal Coarctation

17
Q

Trinicleotide repeats

Anticipation means

A

Disease worsens with successive generation

18
Q

Fragile x

Second most most common cause of _______ after _______

expansion
Gene

Clinical feature

A

MR downs

CGG FMR1 Gene on x chromosome

Macroorchidism
IQ 20-60 (Mental retardation)

19
Q

Huntington

Autosomal ______

Expansion gene

Clinical

A

Dominant

CAG expansion HTT gene

Movement dysorders dementia progressive FATAL

20
Q

In X linked disorder…

  1. All sons…
  2. All daughters are?
A
  1. All sons do not transmit to sons

2. All daughters are carriers

21
Q

Mitcochondrial dystorder

  1. MELAS
  2. Bilaterial central vision blindnes
A
  1. Mitochondrial myopathy, enchephalopathy, lactic acidosis, stroke
  2. Leber hereditary optic neuropahty
22
Q

In Angelman syndrome

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

In prader willi syndrome;

  1. There is deletion of site in ___________
  2. On the ___________ chromosome, ___________ is imprinted, ________ is active?
A
  1. Paternal chromosome
  2. Maternal chromosome; prader willi is imprinted, UBE3a gene is active

Loss of function in prader willi gene

Pathology Review (8 decks)

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