MCB diseases

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wdrusinowii
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47010
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MCB diseases
Updated:
2010-11-06 11:19:32
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mcb diseases
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MCB diseases
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  1. Acanthocytosis
    • Increased cholesterol in the RBCs membrane
    • Haemolytic anaemia, jaundiced
    • AR
  2. Hereditary Spherocytosis
    • Spectrin deficiency or other RBC membrane unit
    • Haemolytic anaemia, jaundiced, gall stones
    • AD
  3. Emery-Dreifuss
    • Emerin or LaminA/C
    • contracture, muscles weakness
    • childhood
    • X-linked but can be autosomal
  4. Dilated Cardiomyopathy
    • Lamin A/C, Actin mutation at Z-disk
    • Congestive heart failure, Large heart, thin walls
    • AR
  5. Lipodystrophy
    • LaminaA/C, Interaction with adipocyte TF
    • Fat face, muscular body
    • AR
  6. Progeria
    • Lamina A, Bleb formation in nucleus
    • Premature aging
    • 1 in 4 mil
    • early presentation
    • AD-mixed
  7. Spinal Muscular Atrophy
    • Mutation in Motor neuron--> loss of motor neurons
    • Muscle weakness, atrophy, hypotonia
    • 1 in 40 are carriers
    • Sudden onset, rapid progression
  8. Cystic Firbrosis
    • Incorrectly folded protein of the Cl- ion channel
    • chronic chest infection
    • sweat test
    • AR
  9. Hypercholestrolemia
    • Mutation in LDL-receptor-> increase in plasma cholesterol
    • atherosclerosis
    • AR
  10. I-Cell
    • Lack of M6P tag b/c NAcG Phos mutation-->waste products accumulate
    • Tagged in cis-golgi
    • Skeletal issues, coarse features
    • Milder form is pseudo-hurler
    • Mucolipidosis
  11. Gaucher Disease
    • Glucocerebroside mutation
    • Megaly, skeletal issues
    • Most common lipidosis disease
  12. Hurler Syndrome
    • alpha-L-iduronase--> GAG accumulation
    • megaly, hirsutism, CORNEAL CLOUDING
    • MPS
    • AR
    • Shie-Hurler is milder form
  13. Hunter Syndrome
    • iduronate sulphatase
    • NO CORNEAL CLOUDING
    • MPS
    • X-Linked
    • Morquio/Sanfillipo
  14. Chediak-Higashi
    • CHS1/LYS-lysosomal trafficking protein mutation
    • Granular defects due to lysosome fusion delay
    • Albinism, recrurrent infections and coagulation issues
  15. Zellweger Spectrum
    • PEX mutation--> failure to import peroxisomal proteins--> empty peroxisome
    • Cannot recognize SKL tage sequence
    • abnormal dev., megaly, liver failure
  16. Barth's Syndrome
    • Defective Cardiolipin synthesis
    • Fatigue, cardiomyopathy
    • x-linked
  17. X-linked Adrenoleukodystrophy
    • Defective membrane protien that imports VLCFAs-->aggregation
    • Spasticity, ataxia, visual loss
    • Most Common
  18. Progressive external ophtalmoplegia (PEO)
    • DNA Pol Gamma mutation
    • Bilateral ptosis, eye muscles weaking
    • 18-40
    • AD
  19. MELAS
    • mtDNA tRNA-leucine
    • short stature, strokes, always heteroplasmic
    • mtDNA
  20. MERRF
    • mtRNA tRNA lysine
    • myoclonic epilepsy, Ragged Red Fibers
    • always heteroplasmic
    • mtDNA
  21. LHON
    • missense mutation of complex 1
    • bilateral vision failure
    • may be homoplasmic
    • mtDNA with X chromosome impacting penetrance
    • presents at 24
  22. NARP
    • ATPase 6 gene
    • ataxia, pigmentary retinopathy
    • Leigh Syndome
  23. KSS
    • Giant Deletions
    • PEO with cerebrallar ataxia
    • no bone marrow
    • late onset
    • mt
  24. Pearson
    • Giant deletions
    • similar to KSS
    • with bone marrow
    • pediatric
    • mtDNA
  25. NIDDM
    • downregulation of insulin receptor
    • Hyperglycemia-Type 2
  26. Retinitis pigmentosa 4
    • mutation in Rhodopsin
    • loss of night and peripheral vision
  27. Alzheimer's
    • beta-sheet aggregation, NFTs
    • memory loss and disorientation
    • Apo E4 risk factor
    • Apo E2 reduced risk
    • Can be genetic or acquired
  28. Familiar MND/ALS
    • Dynactin Subunit
    • Motor neuron degredation
  29. Primary Ciliary Dyskinesia
    • Axonemal dynein defect --> immotile cilia and sperm
    • infertility, recurrent infection
    • 50%=Kartagener's, w/ situs inversus
    • AR with variable penetrance
  30. Epidermis Bullosa Simplex
    • Keratin 5,14, basal layer
    • blisters
    • IF
    • AD
  31. Epidermic hyperkeratosis
    • Keratin 1 and 10, Supra basal, multiple keratinocytes
    • Keratinized blisters
    • IF
  32. Epidermic Plantopalmar Keratonoma
    • Keratin 9
    • Blisters on hands and feet
  33. Wiskott-Aldrich Syndrome
    • no actin nucleation and disruption of signalling
    • thrombocytopenia, ezcema
    • Immunodeficinecy
    • X-linked
  34. Familial Hypertrophic Cardiomyopathy
    • cardiac form myosin II, less contraction bigger muscle
    • asymptomatic
    • sudden fatal cardiac arrest
    • AD
  35. Desmin Related Myopathy
    • Desmin muation, aggregation, filament interruption
    • cardiac and respiratory failure
  36. Duchenne MD
    • Total absence of dystrophin
    • Gower's sign, calf pseudohypertophy
    • Most Common
    • X-linked, some mosaicism
  37. Becker's MD
    • Abnormal dystrophin
    • Similar DMD symptoms
    • later onset
    • mini dystrophin protein used for treatment
    • Xlinked
  38. Myotonic Dystrophy
    • Myotonin protein kinase
    • cataracts, Facial weakness
    • Trinucleiotide repeat with anticipation
    • AD
  39. Faciscapulohumeral MD
    • Subtelomeric tandem repeat
    • Weaknes of selected muscles
    • AD
  40. Limb Girdle MD
    • Two Types
    • a b y s sarcoglycans
    • muscles weakness in arms and legs
    • AR and AD
  41. Marfan Syndrome
    • C.t fibrillin defect
    • Abe lincoln
    • AD
  42. Ehlers-Danlos
    • Defect in collagen synthesis
    • Hyperflexibility
  43. Bullous Pemphigoid
    • autoantibodies to hemidesmosomal proteins
    • subepidermal blisters
  44. IBS
    • Crohns/Ulcerative collitis
    • abnormal inflammatory response
    • Crohns-distal
  45. Botulism
    • Prohibits ACh by cleaving vsnares
    • Flaccid paralysis
  46. Tetanus
    • cleaves vsnares prevents inhibitory transmitters
    • Spastic paralysis
  47. Gout
    Build up of Uric acids in joints
  48. Cholera
    • stimulates Cs -increased cAMP
    • watery diarrhea
  49. Pertussis
    • inhibits Gi protein - increased cAMP
    • whooping cough
  50. Scurvy
    • Vitamin C deficincy, weak CT
    • bleeding gums
  51. COPD
    • digestion of alveolar tissue by macrophages by neutrophil elastase
    • mutated alpha1-AT
    • loss of elasticity
  52. Diabetic Nephropathy
    • Hyperglycemia--> downregulation of HSPG and increase in collagen
    • Poor membrane in Glomerulus
    • Kidney failure resulting in dialysis
  53. Pemphigus
    • Autoimmune defect of desmosome
    • blisters in the oral mucosa
  54. Charcot-Marie-Tooth
    • missing connexin-32-->lack of intracellular gap junctions--> no nutrients
    • atrophy of distal muscles, depressed tendons, hammer toes
  55. Osteogensis Imperfecta
    • Glycine mutation in Type 1 collagen--> @ C-Terminus more severe--> weak bones
    • Blue sclera
    • 1-mild
    • 2-perinatal lethal
    • 3-mild deforming
    • 4-deforming
  56. Alport
    • mutation of type IV collagen basal lamina
    • Kidney Failure
    • Deafness
  57. Goodpasture
    • Auto-antiboides to Type IV
    • similar to alport
  58. Achondroplasia
    • FGFR3 inhibitory expression in chondrocytes
    • "driving with the brakes on"
    • MOST COMMON DWARFISM
  59. Leukucyte adhesion Deficiency
    • Integrin Mutation--> impaired leukocyte chemotaxis
    • Poor rolling and diapedisis
    • life threatening bacteral infections

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