Clinical diseases Flashcards
LAD-1
autosomal recessive immune system disorder. Characterized by recurrent infections
Congenital myopathy muscular dystrophy
Autosomal recessive condition=muscle weakness
Epidermolysis bullosa
Autosomal recessive epidermal blister condition of the skin
Autosomal recessive Glanzmann thrombasthenia
Condition caused by failure of the platelet;$:& . Platelet dysfunction and prolonged bleeding
Osteogenesis imperfecta
Genetic defect in type I collagen
Kartageners syndrome
Loss of dynein=ciliary dyskinesia. Poor respiratory clearance and reproductive sterility
Homocystinuria
Abnormal Collagen Crosslinking
marFFfan syndrome
Defect in fibrillin 1> weakened tunica media of aorta
Alport Syndrome
Type IV collagen defect. Nephritis, cataracts, deafness
Ehlers-Danos syndrome
Hyperelasticity of skin and hypermobility of joints. Defect in peptidyl lysine hydroxylase needed for type 3. Ruptured large bowel/arteries
sCurvy
vitamin C deficiency. Decreased proline hydroxylation of collagen.
Lysosomal storage diseases
Hereditary diseases with impaired synthesis of various lysosomal enzymes
Hurlers synDrome
Deficiency in enzyme that breaks down heparan and dermatan sulfate. GAGS accumulate
Tay-Sachs
Deficiency in hexosaminidase-accumulation of glycolipids in nervous system
Gauchers syndrome
Defective glucerebrosidase
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
Cystinurea
Hereditary condition- abnormal carrier proteins cannot remove cystine from urine- kidney stones
Defective G proteins
Mental retardation/ diminished development
Cholera toxin
Alters G protein so cannot hydrolyze GTP molecule
Graves’ disease
Autoimmune. IgG Ab to TSH receptors to stimulate thyroid follicular cells. Enlarged thyroid/ eyeball protrusion
Affect tissues/organs with high energy requirement
Mitochondria-linked diseases
Zellweger syndrome
No peroxisomes– long fatty acid accumulate in tissue
