COL2A1

Collagen II (COL2s) is called ’cartilage collagen’ but also occurs in the vitreous. It is an explanation for ocular abnormality in some chondrodysplasias such as spondyloepiphyseal dysplasia congenita (SEDC) (MIM.183900).

Pathology

 germline mutations of COL2A1 in skeletal dysplasias with predominant metaphyseal involvement (17163530)

• autosomal dominant spondyloepiphyseal dysplasia congenita (MIM.183900)
• type II achondrogenesis-hypochondrogenesis (MIM.200610)
• osteoarthritis associated with mild chondrodysplasia (MIM.604864)
• spondyloepiphyseal dysplasia (MIM.183900)
• type I Stickler syndrome (MIM.108300)
• Kniest dysplasia (MIM.156550)
• Wagner syndrome (MIM.143200)
• Torrance type of platyspondylic skeletal dysplasia (MIM.151210)
• spondyloperipheral dysplasia (MIM.271700)

See also

 COLs

• COL2s

 COL1A1: collagen of skin, tendon and bone (MIM.120150)

• mutated in osteogenesis imperfecta type 1, osteogenesis imperfecta type 2, osteogenesis imperfecta type 3, osteogenesis imperfecta type 4, type VIIA EDS (MIM.130060), combined osteogenesis imperfecta (MIM.166200) and Ehlers-Danlos syndrome (MIM.130000) phenotype, Coffey disease (infantile cortical hyperostosis) (MIM.114000)
• COL1A1/PDGFB fusion gene in dermatofibrosarcoma protuberans (DFSP) (MIM.607907)
• variants in suseptibility to osteoporosis, suceptibility ot dissection of cervical arteries