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Flashcards in Clinical diseases Deck (22):
1

LAD-1

autosomal recessive immune system disorder. Characterized by recurrent infections

2

Congenital myopathy muscular dystrophy

Autosomal recessive condition=muscle weakness

3

Epidermolysis bullosa

Autosomal recessive epidermal blister condition of the skin

4

Autosomal recessive Glanzmann thrombasthenia

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

5

Osteogenesis imperfecta

Genetic defect in type I collagen

6

Kartageners syndrome

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

7

Homocystinuria

Abnormal Collagen Crosslinking

8

marFFfan syndrome

Defect in fibrillin 1> weakened tunica media of aorta

9

Alport Syndrome

Type IV collagen defect. Nephritis, cataracts, deafness

10

Ehlers-Danos syndrome

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

11

sCurvy

vitamin C deficiency. Decreased proline hydroxylation of collagen.

12

Lysosomal storage diseases

Hereditary diseases with impaired synthesis of various lysosomal enzymes

13

Hurlers synDrome

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

14

Tay-Sachs

Deficiency in hexosaminidase-accumulation of glycolipids in nervous system

15

Gauchers syndrome

Defective glucerebrosidase

16

Inclusion cell disease( IceL)

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

17

Cystinurea

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

18

Defective G proteins

Mental retardation/ diminished development

19

Cholera toxin

Alters G protein so cannot hydrolyze GTP molecule

20

Graves' disease

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

21

Affect tissues/organs with high energy requirement

Mitochondria-linked diseases

22

Zellweger syndrome

No peroxisomes-- long fatty acid accumulate in tissue