Tusm Exam 1 Diseases

Front 1

Huntington's disease

Back 1

Autosomal dominant genetic disease
Disease of altered nuclear transport (hungtin protein contains NLS not present in wild-type)
Disease of defective mismatch repair
Triplet Repeat Disorder

Front 2

Lupus

Back 2

Autoimmune disease
Disease of altered nuclear transport (autoantibodies complexed to nuclear targets and destroy nucleus)

Front 3

Progeria

Back 3

Laminopathy
characterized by early aging

Front 4

Restrictive Dermopathy

Back 4

Laminopathy
skin does not grow

Front 5

Hereditary Spherocytosis

Back 5

Diseases that involve actin
a defective transmembrane protein cannot make membrane-cytoskeleton interactions in erythrocytes; erythrocyte dies and accumulates in spleen

Front 6

Cystic Fibrosis

Back 6

Diseases involving defective active transport
Deficient/Inactive CFTR

Front 7

Tangier Disease

Back 7

Diseases involving defective active transport
Diseases involving defective RME
defect in an ABC ATPase
results in low HDL

Front 8

Infantile Hypoglycemia

Back 8

Diseases involving defective active transport
defect in sulfonylurea receptor (ABC ATPase)

Front 9

Familial Hypercholesterolemia

Back 9

Diseases involving defective RME
Autosomal dominant genetic
results in inability to transport cholesterol
Dosage effect

Front 10

Streptococcus infection

Back 10

Diseases that exploit/subvert phagocytosis
unique carbohydrate coat

Front 11

Legionnaire's Disease

Back 11

Diseases that exploit/subvert phagocytosis
L. pneumophila neutralizes acification in phagosome

Front 12

Leishmania

Back 12

Diseases that exploit/subvert phagocytosis
protozoan thrives on acidic phagolysosome

Front 13

Leprosy

Back 13

Diseases that exploit/subvert phagocytosis
mycobacterium thrive on acidic phagolysosome

Front 14

Zellweger syndrome

Back 14

Diseases of defective Peroxisomal Targeting
damage the white matter of the brain

Front 15

Neonatal Adrenoleukodystrophy

Back 15

Diseases of defective Peroxisomal Targeting
degenerative disorder of the myelin

Front 16

I-cell disease

Back 16

Lysosomal Storage Disease
enzymes lack M6P and thus do not reach lysosome

Front 17

Tay-Sachs

Back 17

Lysosomal Storage Disease
enzymes not made or inactive

Front 18

Mucopolysaccharidoses I-IV

Back 18

Lysosomal Storage Disease
enzymes inactive

Front 19

Gaucher's Disease

Back 19

Lysosomal Storage Disease
activator protein missing/defective

Front 20

Fabry's Disease

Back 20

Lysosomal Storage Disease
activator protein missing/defective

Front 21

Kartagener's Syndrome

Back 21

Diseases involving MTs
results in immotile cilia/flagella

Front 22

Bloom's Syndrome

Back 22

Diseases involving deficient DNA replication
deficient helicase

Front 23

Werner's Syndrome

Back 23

Diseases involving deficient DNA replication
defective helicase; premature aging

Front 24

Li-Fraumeni Syndrome

Back 24

Diseases involving cell cycle
inherit mutant p53

Front 25

Fragile X Syndrome

Back 25

Diseases of Defective Mismatch Repair
Triplet Repeat Disorders
mental retardation from abnormal neuronal development

Front 26

Xeroderma Pigmentosum

Back 26

Diseases of Defective BER

Front 27

Diphtheria

Back 27

Diseases that inhibit translation
toxin inactivates EF-2

Front 28

Achondroplasia

Back 28

Gain of Function Mutation
Autosomal Dominant
cuases skeletal dysplasia

Front 29

Osteogenesis Imperfecta type II

Back 29

Diseases involving collagen
Dominant-Negative Mutation
Autosomal Dominant
mutation in procollagen causes incorporation of abnormal fibers

Front 30

Down Syndome

Back 30

Trisomy 21

Front 31

Edwards Syndrome

Back 31

Trisomy 18

Front 32

Patau Syndrome

Back 32

Trisomy 13

Front 33

Cri-du-chat Syndrome

Back 33

5p-

Front 34

Turner Syndrome

Back 34

45,X or variant

Front 35

Klinefelter Syndrome

Back 35

47,XXY

Front 36

Prader Willi Syndrome

Back 36

Diseases involving imprinting
del(15)paternal
maternal UPD

Front 37

Angelman Syndrome

Back 37

Diseases involving imprinting
del(15)maternal
paternal UPD

Front 38

DiGeorge Syndrome

Back 38

del(22)

Front 39

Williams Syndrome

Back 39

del(7)

Front 40

Miller-Dieker Syndrome

Back 40

del(17)

Front 41

Tauopathy

Back 41

Diseases involving MTs
a neurodegenerative disease resulting from aggregation of tau protein (a MAP)

Front 42

Listeria

Back 42

Diseases that involve actin

Front 43

Smallpox (Vaccinia)

Back 43

Diseases that involve actin
a virus that uses actin filaments to create a protrusion (spike) of the cell membrane and thus infect (stab) another cell

Front 44

Mytotonic Dystrophy

Back 44

Triplet Repeat Disorders
symptoms: myotonia, cataracts, cardiac arrhythmias, temporal balding, endocrinopathies

Front 45

Epidermal blistering

Back 45

Diseases affecting intermediate filaments

Front 46

Scurvy

Back 46

Diseases that involove defective collagen
Unstable (low HyPro content) formation due to Vitamin C deficiency
S/S: skin lesions and blood vessel fragility

Front 47

Ehlers-Danlos Synrome (EDS)

Back 47

Diseases that involve defective collagen
Either decreased synthesis or defect in collagen processing enzyme
usually autosomal recessive

Front 48

Sickle Cell Anemia

Back 48

Hemoglobin Pathology
Val->Glu creates hydrophobic patch making HbS deoxyHb insoluble

Front 49

Methemoglobin

Back 49

Hemoglobin Pathology
Tyr->His F8 creates +3 iron

Front 50

Thalassemias

Back 50

Hemoglobin Pathology
an imbalance in the synthesis of Hb subunits

Front 51

Polycystic Kidney Disease

Back 51

Diseases of Altered Apoptosis
normal kidney cells die by apoptosis and space is filled with fluid and cysts form

Front 52

Arteriosclerosis

Back 52

Diseases involving faulty adhesive interactions
injury to the arterial wall causes platelets and macrophages to adhere to the endothelial cells

Front 53

Marfan's Syndrome

Back 53

Diseases involving faulty elastin
elastin cross-linking defect usually due to defective fibrillin

Front 54

Menkes Disease

Back 54

Diseases involving collagen
genetic defect causes deficiency in Cu utilization and thus faulty collagen cross-linking

Front 55

Alport Syndrome

Back 55

Diseases involving collagen
genetic defect in which Type IV collagen is absent/non-functional; causes kidney failure

Front 56

Goodpasture Syndrome

Back 56

Diseases involving collagen
autimmune disease in which antibodies to type IV collagen destroy basement membrane of lungs and kidneys

Front 57

Chondrodysplasia

Back 57

Diseases that involve defective proteoglycans
stippled epiphyses and skeletal changes

Front 58

Glanzmann's Thrombasthenia

Back 58

Diseases that involve defective integrins
platelet integrin defect that creates blue spots

Front 59

Pemphigus

Back 59

Diseases that involve defective cadherins
a blistering autoimmune disease in which antibodies to cadherin are produced, which destroys the desmosomes and hemidesmosomes in the skin