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Hereditary ECM Mutation Diseases
Disease, symmtoms, description, ECM type
8
Biology
Professional
10/31/2009

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Term
Osteogenesis imperfecta
Definition
[Collagen I] weak bones that fracture easily
Term
Ehlers-Danlos syndrome, type IV
Definition
[Collagen I] fragile skin and blood vessels, hypermobile joints, bowel or large arteries can spontaneously rupture
Term
ALport syndrome
Definition
[Collagen IV] progressive nephritis, hearing loss, ocular lesions
Term
dystrophic epidermolysis bullosa
Definition
[Collagen VII] separation of dermis from dermis (severe blistering)
Term
Congenital muscular dystrophy
Definition
[Merosin (α-Laminin 2)] defective or missing
Term
Duchenne muscular dystrophy
Definition
mutation affecting dystrophin
Term
junctional epidermolysis bullosa
Definition
[Laminin 5 defect] skin blisters between epidermis and dermis
Term
arthritis, MS, tooth decay, cardiovascular disease, COPD, cancer metastasis
Definition
Excessive or innapropriate ECM degradation
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