Table 6.
Osteochondrodysplasias linked with proteins found to associate with the collagen α1(XI)NTD
| PROTEIN | SKELETAL DYSPLASIA | OMIM*a |
|---|---|---|
| COLIA1 | Ostogenesis imperfecta / Ehlers-Danlos Syndrome | 120150 |
| COL2A1 | Achondrogenesis, Hypochondrogenesis, Stickler syndrome, Kniest syndrome, Spondyloepiphyseal dysplasia | 120140 |
| COL5A1 | Ehlers-Danlos Syndrome | 120215 |
| COL9A1 | Multiple epiphyseal dysplasia, Stickler syndrome | 120210 |
| COL9A2 | Multiple epiphyseal dysplasia, Intervertebral Disc Disease | 120260 |
| COL9A3 | Multiple epiphyseal dysplasia, Intervertebral Disc Disease | 120270 |
| COL11A1 | Fibrochondrogenesis, Stickler's syndrome, Marshall's syndrome | 120280 |
| COL11A2 | Otospondylomegaepiphyseal, Non-ocular Stickler syndrome | 120290 |
| COMP | Multiple epiphyseal dysplasia, Pseudoachondroplasia | 600310 |
| MATN3 | Multiple epiphyseal dysplasia, Hand ostoarthritis | 602109 |
| HSPG2 | Dyssegmental dysplasia | 142461 |
| PLOD1 | Ehlers-Danlos Syndrome | 153454 |
| CMP | Rhematoid arthritis, Polychondritis | 115437 |
| CRTL1 | Dwarfism, Craniofacial abnormalities | 115435 |
| FMOD | Ehlers-Danlos Syndrome | 600245 |
a*
Online Mendelian Inheritance in Man Reference number