Clinical diseases

Question 1

LAD-1

Answer 1

autosomal recessive immune system disorder. Characterized by recurrent infections

Question 2

Congenital myopathy muscular dystrophy

Answer 2

Autosomal recessive condition=muscle weakness

Question 3

Epidermolysis bullosa

Answer 3

Autosomal recessive epidermal blister condition of the skin

Question 4

Autosomal recessive Glanzmann thrombasthenia

Answer 4

Condition caused by failure of the platelet;$:& . Platelet dysfunction and prolonged bleeding

Question 5

Osteogenesis imperfecta

Answer 5

Genetic defect in type I collagen

Question 6

Kartageners syndrome

Answer 6

Loss of dynein=ciliary dyskinesia. Poor respiratory clearance and reproductive sterility

Question 7

Homocystinuria

Answer 7

Abnormal Collagen Crosslinking

Question 8

marFFfan syndrome

Answer 8

Defect in fibrillin 1> weakened tunica media of aorta

Question 9

Alport Syndrome

Answer 9

Type IV collagen defect. Nephritis, cataracts, deafness

Question 10

Ehlers-Danos syndrome

Answer 10

Hyperelasticity of skin and hypermobility of joints. Defect in peptidyl lysine hydroxylase needed for type 3. Ruptured large bowel/arteries

Question 11

sCurvy

Answer 11

vitamin C deficiency. Decreased proline hydroxylation of collagen.

Question 12

Lysosomal storage diseases

Answer 12

Hereditary diseases with impaired synthesis of various lysosomal enzymes

Question 13

Hurlers synDrome

Answer 13

Deficiency in enzyme that breaks down heparan and dermatan sulfate. GAGS accumulate

Question 14

Tay-Sachs

Answer 14

Deficiency in hexosaminidase-accumulation of glycolipids in nervous system

Question 15

Gauchers syndrome

Answer 15

Defective glucerebrosidase

Question 16

Inclusion cell disease( IceL)

Answer 16

Failure to tag (include) all hydrolytic enzyme to be transported from golgi to the lysosomes . Lacking M6P, secreted from the cell

Question 17

Cystinurea

Answer 17

Hereditary condition- abnormal carrier proteins cannot remove cystine from urine- kidney stones

Question 18

Defective G proteins

Answer 18

Mental retardation/ diminished development

Question 19

Cholera toxin

Answer 19

Alters G protein so cannot hydrolyze GTP molecule

Question 20

Graves’ disease

Answer 20

Autoimmune. IgG Ab to TSH receptors to stimulate thyroid follicular cells. Enlarged thyroid/ eyeball protrusion

Question 21

Affect tissues/organs with high energy requirement

Answer 21

Mitochondria-linked diseases

Question 22

Zellweger syndrome

Answer 22

No peroxisomes– long fatty acid accumulate in tissue