Genetic diseases

Question 1

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.

Answer 1

Lysosomal storage disease

Question 2

Enzyme deficient in Gaucher’s disease.

Answer 2

Glucocerebrosidase

Question 3

Metabolite that accumulates in Gaucher’s disease.

Answer 3

Glucocerebroside

Question 4

Enzyme deficient in Tay-Sachs disease.

Answer 4

Hexaminidase

Question 5

Metabolite that accumulates in Tay-sachs disease.

Answer 5

Ganglioside

Question 6

Enzyme deficient in niemman-pick

Answer 6

Sphingomyelinase

Question 7

Metabolite that accumulates in niemman-pick disease.

Answer 7

Sphingomyelin

Question 8

Enzyme deficient in Fabry disease.

Answer 8

Alpha-galactoseidase

Question 9

Metabolite that accumulates in Fabry disease.

Answer 9

Globotriaosylceramide

Question 10

What is the pathognomonic sign of Tay-sach?

Answer 10

Cherry red spotin retina

Question 11

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

Answer 11

4 years old :(

Question 12

Other name of Tay-sachs

Answer 12

Gangliosidosis

Question 13

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

Answer 13

Glycogen storage disease

Question 14

Organ commonly affected by Glycogen storage disease

Answer 14

Liver

Question 15

Disease deficient in Glucose-6-phosphatase

Answer 15

Type 1- Von Gierke’s

Question 16

Disease deficient in Acid maltase

Answer 16

Type II- Pompe’s disease

Question 17

Disease deficient in glycogen debrancher

Answer 17

Type III- Cori’s disase

Question 18

Disease deficient in glycogen branching enzyme

Answer 18

Type IV- Andersen’s disease

Question 19

Disease deficient in muscle glycogen phosphorylase

Answer 19

Type V- McArdle

Question 20

Disease deficient in Liver glycogen phosphorylase

Answer 20

Type VI- Hers

Question 21

Disease deficient in Muscle phosphofructokinase

Answer 21

Type-VII Tarui’s

Question 22

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

Answer 22

Lesch-nyhan syndrome

Question 23

Deficient enzyme in Lesch-nyhan syndrome

Answer 23

Hypoxanthine Guanine Phosphoribosyl Transferase (HGPRT)

Question 24

Syndrome defective in FIBRILLIN type 1

Answer 24

Marfan syndrome

Question 25

Clinical manifestation of Marfan syndrome

Answer 25

Tall stature with deformed sternum Joints that can hyperextend Cardiovascular defects

Question 26

Most common cardiovascular defect associated with marfan syndrome

Answer 26

Cystic medial necrosis of the aorta

Question 27

Pectus excavatumis found in?

Answer 27

Marfan syndrome

Question 28

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

Answer 28

Ehler-Danlos syndrome

Question 29

Complication in Ehler-Danlos syndrome

Answer 29

``` Rupture in major organs and vessels Rupture of the eyeball Rupture of membrane during pregnancy Arthritis Joint pain ```

Question 30

Number one complicatin of ehler-danlos syndrome

Answer 30

Aneurysm

Question 31

other name for ehler-danlos syndrome

Answer 31

Rubberman syndrome

Question 32

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

Answer 32

Down syndrome

Question 33

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

Answer 33

Trisomy 21

Question 34

Hallmark of Trisonomy 21

Answer 34

Autism

Question 35

Characteristics of autism

Answer 35

Difficulty in behavior Difficulty in social interaction Difficulty in sensory senstivity

Question 36

Reflex deficient in Trisomy 21

Answer 36

Babinski reflex

Question 37

Clinica manifestation of trisomy 21

Answer 37

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

Question 38

Complications of Trisomy 21

Answer 38

``` Leukemia Congenital heart defect (av septal defect) Infection Dementia Obesity ```

Question 39

Rare form of down syndrome

Answer 39

Mosai

Question 40

The only down syndrome with only tyyoe thatcan be inherited

Answer 40

Translocation

Question 41

Other name of TRISOMY 13

Answer 41

Patau syndrome

Question 42

Signs and symptoms of Trisomy 13

Answer 42

``` Scalp defect Flexed fingers with polydactyly Ocular hypertelorism cerebral malfformations Absence of eyebrows ```

Question 43

Usually patient with patau syndrome usuallly die during?

Answer 43

First month to first year of their life

Question 44

oral findings of Trisomy 13

Answer 44

Cleft lip and palate

Question 45

Other name of Trisomy 18

Answer 45

Edward syndrome

Question 46

Signs and symptoms of Trisomy 18

Answer 46

Clinched fist Rocker-bottom feet Prominent occipital bone Renal malformations

Question 47

Oral findings of Trisomy 18

Answer 47

Micrognathia | Strawberry head

Question 48

Syndrome most common cause of male hypogonadism

Answer 48

Klinefelter's syndrome

Question 49

Signs and symptoms of Klinefelter' syndrome

Answer 49

Underdeveloped testes Gynecomastia Lower IQ

Question 50

Oral finding of Klinefelter's syndrome

Answer 50

Taurodontism

Question 51

Other disease that shows gynecomastia

Answer 51

Liver disease

Question 52

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

Answer 52

Turner's syndrome

Question 53

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

Answer 53

Turner's syndrome

Question 54

Syndrome where there is absence of barr body

Answer 54

Turner's syndrome

Question 55

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

Answer 55

Cri-Du-Chat

Question 56

Other name of cri-du-chat

Answer 56

Cat's cry syndrome

Question 57

Signs and symptoms of cri-du-chat

Answer 57

High-pitched cry Intellectual disability Delayed development

Question 58

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

Answer 58

Treacher-collin syndrome

Question 59

Oral findings in Treacher-collin syndrome

Answer 59

Small or absent parotid gland | cleft palate

Question 60

Otherwise known as Bird-face

Answer 60

Treacher-collin syndrome

Question 61

Also known as Fish-face

Answer 61

Pierre-robin syndrome

Question 62

Pierre-robin syndrome triad

Answer 62

Cleft palate Retrognathia (mandible) Glossoptosis

Question 63

Glossoptosis means?

Answer 63

Tongue displaced backward

Question 64

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

Answer 64

Stickler syndrome

Question 65

Flat-face

Answer 65

Sticker-syndrome

Question 66

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

Answer 66

Cleidocrania dysostosis/dysplasia

Question 67

The head of patients with cleidocranial dysostosis is described as?

Answer 67

Brachycephalic

Question 68

sutures left open in the occipital bone of cleidocranial dysostosis

Answer 68

Wormian bodies

Question 69

Oral manifestation in patient with cleidocranial dysplasia

Answer 69

Impacted multiple supernumerary teeth

Question 70

Other name of cleidocranial dysostosis

Answer 70

Marie-sainton's disease