COLLAGEN
rheumatoid
arthritis and osteoarthritis
osteogenesis
imperfecta and a number of
types of the Ehlers-Danlos
syndrome
mucopolysaccharidoses
Ehlers-Danlos syndrome
(formerly called Cutis
hyperelastica)
Alport syndrome (hereditary
nephritis)
epidermolysis bullosa
Epidermolysis bullosa
simplex
Scurvy
Menkes disease
components
of the ECM
due to genetic disturbances of the
synthesis of
collagen
Specific components of proteoglycans
(the glycosaminoglycans;
GAGs)
extensive genetic heterogeneity hyperextensibility of the skin, abnormal
tissue
fragility, and increased joint mobility
abnormalities of the structure of the number of genetic disorders (both X-
basement membrane and lamina linked
densa. and autosomal)
type IV collagen, a network-like hematuria, accompanied by ocular
collagen which forms part of the lesions and hearing loss, and patients
structure of the basement membranes may eventually develop endstage renal
of the renal glomeruli, inner ear and disease
eye
Mutations in COL7A1, affecting the he skin breaks and blisters as a result of
structure of type VII collagen minor trauma
mutations in keratin 5
defective synthesis of collagen due to deficiency of ascorbic acid (vitamin C)
reduced and is not a genetic disease; major signs
activity of the enzymes prolyl and are bleeding gums, subcutaneous
lysyl hydroxylases, both of hemorrhages, and poor wound healing
which require ascorbic acid as a
cofactor and are involved in
posttranslational modifications which
give collagen molecules
rigidity
deficiency of copper results in defective
cross-linking of collagen and elastin by
the copper-dependent
enzyme lysyl oxidase.
ELASTIN
Williams-
Beuren syndrome
pulmonary emphysema, cutis
laxa, and aging of the skin
The mutations,
by affecting synthesis of elastin
Fragmentation or, alternatively, a decrease
of elastin
developmental disorder affecting
connective tissue and the central nervous
system; supravalvular aortic stenosis

FIBRILLIN
Marfan syndrome Most cases are caused by mutations in the  Inherited disease affecting connective
gene tissue
(on chromosome 15) for fibrillin-1  inherited as an autosomal dominant trait
 affects the eyes (eg, causing dislocation
of the lens,known as ectopia lentis), the
skeletal system (most patients are tall
and exhibit long digits [arachnodactyly]
and hyperextensibility of the joints), and
the cardiovascular system (eg, causing
weakness of the aortic media, leading to
dilation of the ascending aorta).
 Abraham Lincoln may have had this
condition.

acromicric dysplasia and Mutations in the fibrillin-1 short stature, skin thickening,
geleophysic and stiff joints
dysplasia
Congenital contractural mutation in the gene for fibrillin-2
arachnodactyly