Cell Processes: Disorders/diseases

Front 1

Ehlers-Danlos Syndrome

Back 1

A disease of collagen types I, III, and V, and tenascin-X (a collagen associated protein). compromising structure/strength.
Symptoms include hyperextensible skin, poor wound healing, “cigarette paper” scarring, and joint hypermobility.
AD, AR, or XL, depending on type.

Front 2

Osteogenesis Imperfecta

Back 2

four types differing in severity and due to decreased Type I collagen in bone and consequent weak bone matrix structure.
Mutations in collagen genes: COL1A1 and COL1A2.
“Brittle bone disease” is characterized by multiple fractures with no apparent trauma (often misidentified initially as child abuse), skeletal deformities, blue sclerae.
AD

Front 3

Marfan Syndrome

Back 3

Defective fibrillin protein (helps to organize collagen structure).
Associated with tall, thin people, often athletes.
Clinical: aortic aneurisms (fatal aortic dissection), mitral valve prolapse, dislocated lenses, very long, thin bones of the digits and limbs, flat feet, scoliosis and breastbone deformation, joint hypermobility and a positive wrist/thumb sign

Front 4

Mucopolysaccharidoses (MPSs)

Back 4

Lysosomal Storage Disorders due to Defective GAG Degradation
Recessive disorder w/ 10 Types: most common are Hurler syndrome (MPS type I) & Hunter syndrome (MPS II)

Front 5

Hurler Syndrome

Back 5

MPS I. Deficiency of alpha-iduronidase, a lysosomal enzyme involved in degradation of dermatan sulfate and heparan sulfate
corneal clouding and a particular type of
acute angular kyphoscoliosis (combined outward and lateral spinal curvature), and "gargoylism"- stooped stature and coarse facies, corneal clouding, macroglossia, cardiomyopathy

Front 6

Hunter Syndrome

Back 6

X-linked disorder arising from deficiency of iduronate sulfatase (degrade heparan sulfate and dermatan sulfate)
Deafness is a distinguishing feature of Hunter syndrome, not associated with mental retardation, and no corneal clouding.