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Dental Boards Review > Genetic diseases > Flashcards

Genetic diseases Flashcards

1
Q

A group of disease when there is an increase accumulation of the metabolite which would have otherwise degraded by the presence of normal levels of specific enzyme.

A

Lysosomal storage disease

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2
Q

Enzyme deficient in Gaucher’s disease.

A

Glucocerebrosidase

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3
Q

Metabolite that accumulates in Gaucher’s disease.

A

Glucocerebroside

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4
Q

Enzyme deficient in Tay-Sachs disease.

A

Hexaminidase

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5
Q

Metabolite that accumulates in Tay-sachs disease.

A

Ganglioside

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6
Q

Enzyme deficient in niemman-pick

A

Sphingomyelinase

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7
Q

Metabolite that accumulates in niemman-pick disease.

A

Sphingomyelin

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8
Q

Enzyme deficient in Fabry disease.

A

Alpha-galactoseidase

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9
Q

Metabolite that accumulates in Fabry disease.

A

Globotriaosylceramide

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10
Q

What is the pathognomonic sign of Tay-sach?

A

Cherry red spotin retina

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11
Q

Patient with Tay-sach’s disease usually lives until?

A

4 years old :(

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12
Q

Other name of Tay-sachs

A

Gangliosidosis

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13
Q

A group of disease with deficient enzyme involved in either glycogen production or degradation in the liver.

A

Glycogen storage disease

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14
Q

Organ commonly affected by Glycogen storage disease

A

Liver

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15
Q

Disease deficient in Glucose-6-phosphatase

A

Type 1- Von Gierke’s

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16
Q

Disease deficient in Acid maltase

A

Type II- Pompe’s disease

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17
Q

Disease deficient in glycogen debrancher

A

Type III- Cori’s disase

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18
Q

Disease deficient in glycogen branching enzyme

A

Type IV- Andersen’s disease

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19
Q

Disease deficient in muscle glycogen phosphorylase

A

Type V- McArdle

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20
Q

Disease deficient in Liver glycogen phosphorylase

A

Type VI- Hers

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21
Q

Disease deficient in Muscle phosphofructokinase

A

Type-VII Tarui’s

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22
Q

Syndrome where there is abnormal production of uric acid due to recycling of purinesin the body.

A

Lesch-nyhan syndrome

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23
Q

Deficient enzyme in Lesch-nyhan syndrome

A

Hypoxanthine Guanine Phosphoribosyl Transferase (HGPRT)

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24
Q

Syndrome defective in FIBRILLIN type 1

A

Marfan syndrome

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25
Q

Clinical manifestation of Marfan syndrome

A

Tall stature with deformed sternum
Joints that can hyperextend
Cardiovascular defects

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26
Q

Most common cardiovascular defect associated with marfan syndrome

A

Cystic medial necrosis of the aorta

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27
Q

Pectus excavatumis found in?

A

Marfan syndrome

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28
Q

This disease has a defective collagen type 3 that affects the connective tissue

A

Ehler-Danlos syndrome

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29
Q

Complication in Ehler-Danlos syndrome

A 
Rupture in major organs and vessels
Rupture of the eyeball
Rupture of membrane during pregnancy
Arthritis
Joint pain
30
Q

Number one complicatin of ehler-danlos syndrome

A

Aneurysm

31
Q

other name for ehler-danlos syndrome

A

Rubberman syndrome

32
Q

A genetic disorder that cause life-long intellectual diability, developmental delays and other complications

A

Down syndrome

33
Q

Type of down syndrome of which this is the most common chromosomal disorder due to meiotic nondysfuntion.

A

Trisomy 21

34
Q

Hallmark of Trisonomy 21

A

Autism

35
Q

Characteristics of autism

A

Difficulty in behavior
Difficulty in social interaction
Difficulty in sensory senstivity

36
Q

Reflex deficient in Trisomy 21

A

Babinski reflex

37
Q

Clinica manifestation of trisomy 21

A

Brushfield spots
Flattened nasal bone and strabismus
Macrodlossia, Delayed eruption of teeth and hypodontia.

38
Q

Complications of Trisomy 21

A 
Leukemia
Congenital heart defect (av septal defect)
Infection
Dementia
Obesity
39
Q

Rare form of down syndrome

A

Mosai

40
Q

The only down syndrome with only tyyoe thatcan be inherited

A

Translocation

41
Q

Other name of TRISOMY 13

A

Patau syndrome

42
Q

Signs and symptoms of Trisomy 13

A 
Scalp defect
Flexed fingers with polydactyly
Ocular hypertelorism
cerebral malfformations
Absence of eyebrows
43
Q

Usually patient with patau syndrome usuallly die during?

A

First month to first year of their life

44
Q

oral findings of Trisomy 13

A

Cleft lip and palate

45
Q

Other name of Trisomy 18

A

Edward syndrome

46
Q

Signs and symptoms of Trisomy 18

A

Clinched fist
Rocker-bottom feet
Prominent occipital bone
Renal malformations

47
Q

Oral findings of Trisomy 18

A

Micrognathia

Strawberry head

48
Q

Syndrome most common cause of male hypogonadism

A

Klinefelter’s syndrome

49
Q

Signs and symptoms of Klinefelter’ syndrome

A

Underdeveloped testes
Gynecomastia
Lower IQ

50
Q

Oral finding of Klinefelter’s syndrome

A

Taurodontism

51
Q

Other disease that shows gynecomastia

A

Liver disease

52
Q

One of the most important causes of amenorrhea because ovarian tissues degenerate before birth.

A

Turner’s syndrome

53
Q

The most common feature is short stature which becomes evident at the age of 5

A

Turner’s syndrome

54
Q

Syndrome where there is absence of barr body

A

Turner’s syndrome

55
Q

A genetic condition present from birth that is caused by deletion ofgenetic materials on the small arm of chromosome 5

A

Cri-Du-Chat

56
Q

Other name of cri-du-chat

A

Cat’s cry syndrome

57
Q

Signs and symptoms of cri-du-chat

A

High-pitched cry
Intellectual disability
Delayed development

58
Q

Abnormal development of 1st and 2nd brachial arches, zygoma, mandible, and malformed ears

A

Treacher-collin syndrome

59
Q

Oral findings in Treacher-collin syndrome

A

Small or absent parotid gland

cleft palate

60
Q

Otherwise known as Bird-face

A

Treacher-collin syndrome

61
Q

Also known as Fish-face

A

Pierre-robin syndrome

62
Q

Pierre-robin syndrome triad

A

Cleft palate
Retrognathia (mandible)
Glossoptosis

63
Q

Glossoptosis means?

A

Tongue displaced backward

64
Q

A group of heredity conditions usually with pierre robin characterized by a distinctive facial appearance, eye abnormalities, hearing loss and joint problems.

A

Stickler syndrome

65
Q

Flat-face

A

Sticker-syndrome

66
Q

A congenital disorder of bone formation maanifested with clavicular hypoplasia with narrow thorax that gives wryneck appearance.

A

Cleidocrania dysostosis/dysplasia

67
Q

The head of patients with cleidocranial dysostosis is described as?

A

Brachycephalic

68
Q

sutures left open in the occipital bone of cleidocranial dysostosis

A

Wormian bodies

69
Q

Oral manifestation in patient with cleidocranial dysplasia

A

Impacted multiple supernumerary teeth

70
Q

Other name of cleidocranial dysostosis

A

Marie-sainton’s disease

Dental Boards Review (34 decks)

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