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:
Scleroprotein disease
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Diseases of
collagen
,
laminin
and other
scleroproteins
Collagen disease
COL1
:
Osteogenesis imperfecta
(types I–IV)
Ehlers–Danlos syndrome
(types 1, 2, & 7)
COL2
:
Hypochondrogenesis
Achondrogenesis
(type 2)
Stickler syndrome
Marshall syndrome
Spondyloepiphyseal dysplasia congenita
Spondyloepimetaphyseal dysplasia,
(Strudwick type)
Kniest dysplasia
(
Type II collagenopathy
)
COL3
:
Ehlers–Danlos syndrome
(types 3 & 4)
Sack–Barabas syndrome
COL4
:
Alport syndrome
COL5
:
Ehlers–Danlos syndrome
(types 1 & 2)
COL6
:
Bethlem myopathy
(type 1)
Ullrich congenital muscular dystrophy
(type 1)
COL7
:
Epidermolysis bullosa dystrophica
Recessive dystrophic epidermolysis bullosa
Bart syndrome
Transient bullous dermolysis of the newborn
COL8:
Fuchs' dystrophy
(type 1)
COL9:
Multiple epiphyseal dysplasia
(types 2, 3, & 6)
COL10:
Schmid metaphyseal chondrodysplasia
COL11:
Weissenbacher–Zweymüller syndrome
Otospondylomegaepiphyseal dysplasia
(
Type XI collagenopathy
)
COL12:
Bethlem myopathy
(type 2)
Ullrich congenital muscular dystrophy
(type 2)
COL17:
Bullous pemphigoid
COL18:
Knobloch syndrome
Laminin
Junctional epidermolysis bullosa
Laryngoonychocutaneous syndrome
Other
Congenital stromal corneal dystrophy
Raine syndrome
Urbach–Wiethe disease
TECTA
DFNA8/12, DFNB21
see also
fibrous proteins
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