FINALS- QUIZ 1 & 2

Question 1

This mutation in the gene results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related conditions.

Answer 1

True

Question 2

Mendelian diseases or digenic diseases, these kinds of diseases are caused by mutations in one gene, and they sometimes run in families.

Answer 2

False

Question 3

Marfan syndrome is inherited in an autosomal-dominant pattern.

Answer 3

True

Question 4

The Ehlers-Danlos syndromes are named after two physicians, Edmund Ehlers and Henri-Alexandre Danlos, who described them at the turn of the 20th century.

Answer 4

False

Question 5

Every type of EDS except the hypermobile type (which affects the vast majority of people with EDS) can be positively tied to specific genetic variation.

Answer 5

True

Question 6

Brittle cornea syndrome

Answer 6

ZNF469
PRDM5

Question 7

Cardiac-valvular EDS

Answer 7

Type I collagen

Question 8

Myopathic EDS

Answer 8

Type XII collagen

Question 9

Classical-like EDS

Answer 9

Tenascin XB

Question 10

Kyphoscoliotic EDS

Answer 10

LH1
FKBP22

Question 11

Spondylodysplastic EDS

Answer 11

Beta3GaIT6

Question 12

Hypermobile EDS

Answer 12

Unknown

Question 13

Periodontal EDS

Answer 13

C1r

Question 14

Musculocontractural EDS

Answer 14

DSE

Question 15

Dermatoxparaxis EDS

Answer 15

ADAMTS-2

Question 16

mEDS

Answer 16

COL12A1

Question 17

vEDS

Answer 17

COL3A1

Question 18

mcEDS

Answer 18

CHST14

Question 19

cvEDS

Answer 19

COL1A2

Question 20

spEDS

Answer 20

SLC39A13

Question 21

pEDS

Answer 21

C1R

Question 22

cEDS

Answer 22

COL5A1

Question 23

BCS

Answer 23

ZNF469

Question 24

clEDS

Answer 24

TNXB

Question 25

hEDS

Answer 25

Unknown

Question 26

Which of the following diseases is caused by a deficiency of sphingomyelinase?

Answer 26

Niemann–Pick disease

Question 27

Which of the following diseases is caused by a deficiency of N acetylglucosaminidase A?

Question 28

Which of the following diseases is caused by a deficiency of βglucocerebrosidase ?

Answer 28

Gaucher disease

Question 29

A condition caused by homogentisic acid oxidase deficiency.

Answer 29

Alkaptonuria

Question 30

Identify the enzyme deficiency responsible for type 1 glycogen storage disease (von Gierke’s disease).

Answer 30

Glucose-6-phosphatase

Question 31

Which of the following is classified as a mucopolysaccharide storage disease?

Answer 31

Hurler’s syndrome

Question 32

All are mucopolysaccharidoses (MPS storage diseases) except

Answer 32

von Gierke disease

Question 33

von Gierke disease Type Ib is deficient in

Answer 33

Glucose-6- phosphatase translocase

Question 34

“Cori” or Forbes’ disease has defect in

Answer 34

Glycogen debranching enzyme (in both liver and muscle)

Question 35

Anderson’s disease has a defect in

Answer 35

Glycogen branching enzyme

Question 36

von Recklinghausen’s disease is also referred to as

Answer 36

Neurofibromatosis 1

Question 37

A condition caused by mutations in the gene on chromosome 22.

Answer 37

Neurofibromatosis 2

Question 38

A condition caused by mutations in the gene on chromosome 17q11.2

Answer 38

Neurofibromatosis 1

Question 39

Schwannomatosis has similarities with

Answer 39

Neurofibromatosis 2

Question 40

A condition caused by changes in a gene called (FMR1).

Answer 40

FXS

Question 41

A deficiency of this enzyme results in accumulation of glucocerebrosides and is the cause of Gaucher’s disease.

Answer 41

β Glucocerebrosidase

Question 42

Classic infantile form, manifests itself in infancy with massive visceromegaly and severe neurologic deterioration

Answer 42

Type A Niemann-Pick D

Question 43

Visceral juvenile form, no neurologic disorders

Answer 43

Type B Niemann-Pick D

Question 44

most common form of the disease

Answer 44

Type C Niemann-Pick D

Question 45

Nova Scoatian type

Answer 45

Type D Niemann-Pick D

Question 46

large head, long face, prominent forehead and chin, protruding ears, loose joints and large testes

Answer 46

Fragile X Syndrome

Question 47

characterized by multiple light brown (café-au-lait) spots concentrated in the groin and underarms and benign tumors under the skin

Answer 47

Neurofibromatosis type I (NF1)

Question 48

characterized by benign tumors of the nerves that transmit sound impulses and balance signals from the inner ears to the brain

Answer 48

Neurofibromatosis type II (NF2)

Question 49

Ochronosis- connective tissue such as cartilage turns blue, grey or black due to the chronic accumulation of homogentisic acid

Answer 49

Alkaptonuria

Question 50

rare condition that changes the way the body uses and stores glycogen, a form of sugar or glucose

Answer 50

Glycogen Storage Diseases

Question 51

Coarse facial features, irregularities, liver and spleen enlargement (hepatosplenomegaly), and/or neurological abnormalities

Answer 51

Mucopolysaccharidoses

Question 52

enlarged liver and spleen, low platelet and hemoglobin counts, problems with bones and joints

Answer 52

Gaucher’s Disease

Question 53

manifests itself in infancy with massive visceromegaly and severe neurologic deterioration

Answer 53

Niemann-Pick Disease Type A

Question 54

The disease is most common among the Ashkenazi

Answer 54

Tay-Sachs Disease

Question 55

A physical exam may show fatty skin growths called xanthomas and cholesterol deposits in the eye (corneal arcus).

Answer 55

Familial Hypercholesterolemia (FH)