Platyspondylic lethal skeletal dysplasia, Torrance type (PLSDT) Achondrogenesis type II [DS:H02066] Legg-Calve-Perthes disease [DS:H01526] Osteoarthritis with mild chondrodysplasia [DS:H00445] Kniest dysplasia [DS:H02070] Czech dysplasia [DS:H02071] Spondyloepiphyseal dysplasia congenita [DS:H00519] Spondyloperipheral dysplasia (SPD) Vitreoretinopathy with phalangeal epiphyseal dysplasia (VPED)
Description
Type II collagenopathies are a spectrum of phenotypes which affect the skeletal and visual systems. The severity ranges from perinatal lethality (achondrogenesis II) to the milder conditions caused by reduced collagen content in cartilage (Kniest dysplasia).
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H00520 Type II collagenopathies
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06548 Integrin signaling
H00520 Type II collagenopathies
Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafe L, Spranger J, Zabel B, Superti-Furga A
Title
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.
Richards AJ, Morgan J, Bearcroft PW, Pickering E, Owen MJ, Holmans P, Williams N, Tysoe C, Pope FM, Snead MP, Hughes H
Title
Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule.
